FOXP2forkhead box P2
Autism Reports / Total Reports
23 / 56Rare Variants / Common Variants
79 / 8Aliases
FOXP2, SPCH1, CAGH44, TNRC10, DKFZp686H1726Associated Syndromes
-Chromosome Band
7q31.1Associated Disorders
SCZ, ADHD, ASDRelevance to Autism
Studies have found genetic association and rare variants in the FOXP2 gene that are identified with autism. Positive associations have been found in the Chinese Han population and mutations were identified in the Japanese population. However, several other studies have either found no genetic association or no rare genetic variation in the FOXP2 gene identified with autism. Separately, rare variations in the FMR1 gene have been identified with verbal dyspraxia.
Molecular Function
This gene encodes a member of the forkhead/winged-helix (FOX) family of transcription factors. It is expressed in fetal and adult brain as well as in several other organs such as the lung and gut. The protein product contains a FOX DNA-binding domain and a large polyglutamine tract and is an evolutionarily conserved transcription factor, which may bind directly to approximately 300 to 400 gene promoters in the human genome to regulate the expression of a variety of genes. This gene is required for proper development of speech and language regions of the brain during embryogenesis, and may be involved in a variety of biological pathways and cascades that may ultimately influence language development. Mutations in this gene cause speech-language disorder 1 (SPCH1), also known as autosomal dominant speech and language disorder with orofacial dyspraxia.
External Links
SFARI Genomic Platforms
Reports related to FOXP2 (56 Reports)
| # | Type | Title | Author, Year | Autism Report | Associated Disorders |
|---|---|---|---|---|---|
| 1 | Support | A forkhead-domain gene is mutated in a severe speech and language disorder | Lai CS , et al. (2001) | No | - |
| 2 | Negative Association | FOXP2 is not a major susceptibility gene for autism or specific language impairment | Newbury DF , et al. (2002) | Yes | - |
| 3 | Negative Association | Evaluation of FOXP2 as an autism susceptibility gene | Wassink TH , et al. (2002) | Yes | - |
| 4 | Highly Cited | Molecular evolution of FOXP2, a gene involved in speech and language | Enard W , et al. (2002) | No | - |
| 5 | Negative Association | Mutation screening of FOXP2 in individuals diagnosed with autistic disorder | Gauthier J , et al. (2003) | Yes | - |
| 6 | Primary | Association between the FOXP2 gene and autistic disorder in Chinese population | Gong X , et al. (2004) | Yes | - |
| 7 | Positive Association | Absence of causative mutations and presence of autism-related allele in FOXP2 in Japanese autistic patients | Li H , et al. (2005) | Yes | - |
| 8 | Recent Recommendation | Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits | MacDermot KD , et al. (2005) | No | - |
| 9 | Negative Association | No association of FOXP2 and PTPRZ1 on 7q31 with autism from the Japanese population | Marui T , et al. (2005) | Yes | - |
| 10 | Support | Speech, prosody, and voice characteristics of a mother and daughter with a 7;13 translocation affecting FOXP2 | Shriberg LD , et al. (2006) | No | - |
| 11 | Support | Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia | Feuk L , et al. (2006) | No | - |
| 12 | Recent Recommendation | Incomplete and inaccurate vocal imitation after knockdown of FoxP2 in songbird basal ganglia nucleus Area X | Haesler S , et al. (2007) | No | - |
| 13 | Recent Recommendation | Impaired synaptic plasticity and motor learning in mice with a point mutation implicated in human speech deficits | Groszer M , et al. (2008) | No | - |
| 14 | Recent Recommendation | Expression of FOXP2 in the developing monkey forebrain: comparison with the expression of the genes FOXP1, PBX3, and MEIS2 | Takahashi K , et al. (2008) | No | - |
| 15 | Recent Recommendation | Conservation and diversity of Foxp2 expression in muroid rodents: functional implications | Campbell P , et al. (2008) | No | - |
| 16 | Recent Recommendation | A functional genetic link between distinct developmental language disorders | Vernes SC , et al. (2008) | No | - |
| 17 | Recent Recommendation | A humanized version of Foxp2 affects cortico-basal ganglia circuits in mice | Enard W , et al. (2009) | No | - |
| 18 | Support | Language features in a mother and daughter of a chromosome 7;13 translocation involving FOXP2 | Tomblin JB , et al. (2009) | No | - |
| 19 | Recent Recommendation | Human-specific transcriptional regulation of CNS development genes by FOXP2 | Konopka G , et al. (2009) | No | - |
| 20 | Support | Molecular networks implicated in speech-related disorders: FOXP2 regulates the SRPX2/uPAR complex | Roll P , et al. (2010) | No | - |
| 21 | Negative Association | Association study of the CNS patterning genes and autism in Han Chinese in Taiwan | Chien YL , et al. (2011) | Yes | - |
| 22 | Support | Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders | Schaaf CP , et al. (2011) | Yes | - |
| 23 | Support | Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link with autism | Lesca G , et al. (2012) | No | ADHD |
| 24 | Recent Recommendation | Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization | Laffin JJ , et al. (2012) | No | - |
| 25 | Negative Association | Analysis of two language-related genes in autism: a case-control association study of FOXP2 and CNTNAP2 | Toma C , et al. (2013) | Yes | - |
| 26 | Recent Recommendation | FOXP2 targets show evidence of positive selection in European populations | Ayub Q , et al. (2013) | No | - |
| 27 | Support | Small intragenic deletion in FOXP2 associated with childhood apraxia of speech and dysarthria | Turner SJ , et al. (2013) | No | - |
| 28 | Support | Large-scale discovery of novel genetic causes of developmental disorders | Deciphering Developmental Disorders Study (2014) | No | - |
| 29 | Support | Comprehensive molecular testing in patients with high functioning autism spectrum disorder | Alvarez-Mora MI , et al. (2016) | Yes | - |
| 30 | Recent Recommendation | Sumoylation of FOXP2 Regulates Motor Function and Vocal Communication Through Purkinje Cell Development | Usui N , et al. (2016) | No | - |
| 31 | Support | FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum | Reuter MS , et al. (2016) | No | ASD or autistic features |
| 32 | Recent Recommendation | Foxp2 controls synaptic wiring of corticostriatal circuits and vocal communication by opposing Mef2c | Chen YC , et al. (2016) | No | - |
| 33 | Support | The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies | Redin C , et al. (2016) | No | - |
| 34 | Support | Functional characterization of rare FOXP2 variants in neurodevelopmental disorder | Estruch SB , et al. (2016) | No | - |
| 35 | Positive Association | The central nervous system patterning gene variants associated with clinical symptom severity of autism spectrum disorders | Chien YL , et al. (2017) | Yes | Severity of social reciprocity deficits (ADI-R, SC |
| 36 | Positive Association | A common genetic variant in FOXP2 is associated with language-based learning (dis)abilities: Evidence from two Italian independent samples | Mozzi A , et al. (2017) | No | - |
| 37 | Support | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder | Lim ET , et al. (2017) | Yes | - |
| 38 | Recent Recommendation | Proteomic analysis of FOXP proteins reveals interactions between cortical transcription factors associated with neurodevelopmental disorders | Estruch SB , et al. (2018) | No | - |
| 39 | Recent Recommendation | Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder | Demontis D , et al. (2018) | No | - |
| 40 | Support | Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes | Guo H , et al. (2018) | Yes | - |
| 41 | Recent Recommendation | Chromatin Decondensation by FOXP2 Promotes Human Neuron Maturation and Expression of Neurodevelopmental Disease Genes | Hickey SL , et al. (2019) | No | - |
| 42 | Support | Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder | Munnich A , et al. (2019) | Yes | - |
| 43 | Support | Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism | Satterstrom FK et al. (2020) | Yes | - |
| 44 | Support | Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders | Wang T et al. (2020) | Yes | - |
| 45 | Support | - | Herrero MJ et al. (2021) | Yes | - |
| 46 | Support | - | Pode-Shakked B et al. (2021) | No | - |
| 47 | Support | - | Mahjani B et al. (2021) | Yes | - |
| 48 | Support | - | Lüffe TM et al. (2021) | No | - |
| 49 | Support | - | Hu C et al. (2022) | Yes | - |
| 50 | Support | - | Krgovic D et al. (2022) | Yes | ID |
| 51 | Positive Association | - | Tielbeek JJ et al. (2022) | No | - |
| 52 | Support | - | Haghighatfard A et al. (2022) | Yes | - |
| 53 | Support | - | Spataro N et al. (2023) | No | - |
| 54 | Support | - | Hu C et al. (2023) | Yes | - |
| 55 | Support | - | Sanchis-Juan A et al. (2023) | No | - |
| 56 | Support | - | Sheth F et al. (2023) | Yes | DD, ID |
Rare Variants (79)
| Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
|---|---|---|---|---|---|---|---|---|
| delCAA | - | inframe_deletion | - | - | - | 15737702 | Li H , et al. (2005) | |
| - | - | translocation | Unknown | - | - | 11586359 | Lai CS , et al. (2001) | |
| - | - | translocation | Unknown | - | - | 17033973 | Feuk L , et al. (2006) | |
| A>G | p.(=) | synonymous_variant | - | - | - | 15737702 | Li H , et al. (2005) | |
| A>T | p.(=) | synonymous_variant | - | - | - | 15737702 | Li H , et al. (2005) | |
| C>T | p.(=) | synonymous_variant | - | - | - | 15737702 | Li H , et al. (2005) | |
| G>T | p.(=) | synonymous_variant | - | - | - | 15737702 | Li H , et al. (2005) | |
| - | - | copy_number_loss | Unknown | - | - | 31406558 | Munnich A , et al. (2019) | |
| G>A | - | 5_prime_UTR_variant | - | - | - | 15877281 | MacDermot KD , et al. (2005) | |
| A>G | p.(=) | synonymous_variant | - | - | - | 11894222 | Newbury DF , et al. (2002) | |
| C>G | p.(=) | synonymous_variant | - | - | - | 11894222 | Newbury DF , et al. (2002) | |
| G>A | p.(=) | synonymous_variant | - | - | - | 11894222 | Newbury DF , et al. (2002) | |
| T>A | p.(=) | synonymous_variant | - | - | - | 11894222 | Newbury DF , et al. (2002) | |
| T>C | p.(=) | synonymous_variant | - | - | - | 11894222 | Newbury DF , et al. (2002) | |
| T>G | p.(=) | synonymous_variant | - | - | - | 11894222 | Newbury DF , et al. (2002) | |
| T>G | p.(=) | synonymous_variant | - | - | - | 12116195 | Wassink TH , et al. (2002) | |
| A>G | p.(=) | synonymous_variant | - | - | - | 12655497 | Gauthier J , et al. (2003) | |
| C>G | p.(=) | synonymous_variant | - | - | - | 12655497 | Gauthier J , et al. (2003) | |
| T>G | p.(=) | synonymous_variant | - | - | - | 12655497 | Gauthier J , et al. (2003) | |
| - | - | insertion | Unknown | - | Simplex | 37541188 | Sanchis-Juan A et al. (2023) | |
| C>G | p.(=) | synonymous_variant | - | - | - | 15877281 | MacDermot KD , et al. (2005) | |
| C>T | p.(=) | synonymous_variant | - | - | - | 15877281 | MacDermot KD , et al. (2005) | |
| T>A | p.(=) | synonymous_variant | - | - | - | 15877281 | MacDermot KD , et al. (2005) | |
| T>C | p.(=) | synonymous_variant | - | - | - | 15877281 | MacDermot KD , et al. (2005) | |
| T>G | p.(=) | synonymous_variant | - | - | - | 15877281 | MacDermot KD , et al. (2005) | |
| c.495A>G | p.Gln165= | synonymous_variant | - | - | - | 15737702 | Li H , et al. (2005) | |
| c.987-1G>A | - | splice_site_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
| c.233G>C | p.Ser78Thr | missense_variant | Unknown | - | - | 35741772 | Hu C et al. (2022) | |
| c.741C>T | p.Leu247= | synonymous_variant | - | - | - | 12116195 | Wassink TH , et al. (2002) | |
| c.570A>G | p.Gln190= | synonymous_variant | - | - | - | 12655497 | Gauthier J , et al. (2003) | |
| c.1831T>A | p.Leu611Met | missense_variant | Unknown | - | - | 35741772 | Hu C et al. (2022) | |
| - | - | copy_number_loss | Familial | Paternal | Multiplex | 30504930 | Guo H , et al. (2018) | |
| c.1468+9T>C | - | intron_variant | Unknown | - | Unknown | 22738016 | Lesca G , et al. (2012) | |
| c.1201C>T | p.Arg401Ter | stop_gained | Unknown | - | - | 34615535 | Mahjani B et al. (2021) | |
| c.1674G>A | p.Leu558%3D | stop_gained | Unknown | - | - | 35813072 | Krgovic D et al. (2022) | |
| - | - | translocation | Familial | Maternal | Simplex | 19797137 | Tomblin JB , et al. (2009) | |
| c.1770-33G>A | - | intron_variant | Unknown | - | Unknown | 22738016 | Lesca G , et al. (2012) | |
| del18 | - | inframe_deletion | Familial | Maternal | - | 12116195 | Wassink TH , et al. (2002) | |
| c.1664T>C | p.Ile555Thr | missense_variant | De novo | - | - | 33004838 | Wang T et al. (2020) | |
| - | - | complex_structural_alteration | De novo | - | Simplex | 27841880 | Redin C , et al. (2016) | |
| c.1429C>T | p.Arg477Ter | stop_gained | De novo | - | Simplex | 28714951 | Lim ET , et al. (2017) | |
| insCAGCAG | - | inframe_insertion | Familial | Maternal | - | 11894222 | Newbury DF , et al. (2002) | |
| c.1690C>T | p.Arg564Ter | stop_gained | Familial | - | - | 34580403 | Pode-Shakked B et al. (2021) | |
| c.1761G>A | p.(=) | synonymous_variant | Unknown | - | Unknown | 22738016 | Lesca G , et al. (2012) | |
| c.934C>T | p.His312Tyr | stop_gained | De novo | - | Simplex | 27572252 | Reuter MS , et al. (2016) | |
| insCAGCAGCAACAA | - | inframe_insertion | - | - | Multiplex | 15877281 | MacDermot KD , et al. (2005) | |
| c.1765C>T | p.Arg589Ter | stop_gained | De novo | - | Simplex | 27572252 | Reuter MS , et al. (2016) | |
| c.1067G>A | p.Cys356Tyr | missense_variant | Familial | Paternal | - | 37007974 | Hu C et al. (2023) | |
| del15 | - | inframe_deletion | Familial | Maternal | Multiplex | 12116195 | Wassink TH , et al. (2002) | |
| c.1217T>C | p.Met406Thr | missense_variant | Unknown | - | Unknown | 22738016 | Lesca G , et al. (2012) | |
| c.1368T>C | p.Ile456= | synonymous_variant | Unknown | - | Unknown | 22738016 | Lesca G , et al. (2012) | |
| c.1321C>A | p.Pro441Thr | missense_variant | Unknown | - | Simplex | 21624971 | Schaaf CP , et al. (2011) | |
| c.2012A>G | p.Asn671Ser | missense_variant | Unknown | - | Simplex | 21624971 | Schaaf CP , et al. (2011) | |
| c.2175A>T | p.Glu725Asp | missense_variant | Unknown | - | Simplex | 21624971 | Schaaf CP , et al. (2011) | |
| c.1786A>C | p.Asn596His | missense_variant | Unknown | - | Multiplex | 22766611 | Laffin JJ , et al. (2012) | |
| - | - | copy_number_loss | De novo | - | Multiplex (monozygotic twins) | 27572252 | Reuter MS , et al. (2016) | |
| c.50A>T | p.Gln17Leu | missense_variant | Unknown | - | Multiplex | 15877281 | MacDermot KD , et al. (2005) | |
| c.1842_1843del | p.Gly615LysfsTer19 | frameshift_variant | Unknown | - | - | 33004838 | Wang T et al. (2020) | |
| c.1088del | p.Leu363Ter | frameshift_variant | Familial | Maternal | - | 36980980 | Spataro N et al. (2023) | |
| c.1654C>T | p.Arg552Cys | missense_variant | De novo | - | Simplex | 31981491 | Satterstrom FK et al. (2020) | |
| c.917C>T | p.Ala306Val | stop_gained | Familial | Paternal | Multiplex | 27572252 | Reuter MS , et al. (2016) | |
| c.1217T>C | p.Met406Thr | missense_variant | Familial | Paternal | Simplex | 20858596 | Roll P , et al. (2010) | |
| c.1057C>T | p.Arg353Ter | stop_gained | Familial | Maternal | Multiplex | 27572252 | Reuter MS , et al. (2016) | |
| c.979C>T | p.Arg327Ter | stop_gained | Familial | Maternal | Multiplex | 15877281 | MacDermot KD , et al. (2005) | |
| c.1549G>A | p.Ala517Thr | missense_variant | Unknown | Not maternal | Simplex | 37543562 | Sheth F et al. (2023) | |
| c.1637C>T | p.Thr546Ile | missense_variant | Familial | Paternal | Simplex | 27572252 | Reuter MS , et al. (2016) | |
| c.1321C>A | p.Pro441Thr | missense_variant | Familial | Maternal | Multiplex | 23918746 | Turner SJ , et al. (2013) | |
| c.1682G>C | p.Arg561Pro | missense_variant | Familial | Paternal | Multiplex | 27572252 | Reuter MS , et al. (2016) | |
| c.1611del | p.Phe537LeufsTer28 | frameshift_variant | De novo | - | Multiplex | 27572252 | Reuter MS , et al. (2016) | |
| c.1165_1166del | p.Gln389ValfsTer7 | frameshift_variant | De novo | - | Simplex | 23918746 | Turner SJ , et al. (2013) | |
| c.522_524del | p.Gln174_Leu175delinsHis | inframe_deletion | Unknown | - | Unknown | 22738016 | Lesca G , et al. (2012) | |
| c.426G>T | p.Gln142His | missense_variant | Familial | Paternal | Simplex | 26845707 | Alvarez-Mora MI , et al. (2016) | |
| c.-11+3115T>C | - | intron_variant | De novo | - | Unknown | 25533962 | Deciphering Developmental Disorders Study (2014) | |
| c.1092-3370C>T | - | intron_variant | De novo | - | Unknown | 25533962 | Deciphering Developmental Disorders Study (2014) | |
| c.1264-1709A>G | - | intron_variant | De novo | - | Unknown | 25533962 | Deciphering Developmental Disorders Study (2014) | |
| c.324dup | p.Gln109SerfsTer156 | frameshift_variant | Familial | Paternal | Simplex | 23160955 | O'Roak BJ , et al. (2012) | |
| c.1655G>A | p.Arg552His | missense_variant | Familial | Maternal and Paternal | Multi-generational | 11586359 | Lai CS , et al. (2001) | |
| c.615_617dup | p.Gln208dup | inframe_insertion | De novo (1 case); unknown (3 cases) | - | Simplex | 21624971 | Schaaf CP , et al. (2011) | |
| c.2159A>C | p.His720Pro | missense_variant | Familial (1 case); De novo (1 case) | Maternal (1 case) | Simplex | 21624971 | Schaaf CP , et al. (2011) |
Common Variants (8)
| Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Paternal Transmission | Family Type | PubMed ID | Author, Year |
|---|---|---|---|---|---|---|---|---|
| c.169-26341C>A;c.168+81597C>A;c.*228+9183C>A | - | intron_variant | - | - | - | 28081867 | Chien YL , et al. (2017) | |
| c.-11+5061A>T;c.-345+5061A>T;c.-11+5879A>T;c.-344-6081A>T;c.-10-6081A>T | - | intron_variant | - | - | - | 28081867 | Chien YL , et al. (2017) | |
| c.1264-2019T>C;c.1267-2019T>C;c.1342-2019T>C;c.1318-2019T>C;c.1411-2019T>C;c.433-2019T>C | - | intron_variant | - | - | - | 15108192 | Gong X , et al. (2004) | |
| c.1264-2019T>C;c.1267-2019T>C;c.1342-2019T>C;c.1318-2019T>C;c.1411-2019T>C;c.433-2019T>C | - | intron_variant | - | - | - | 28081867 | Chien YL , et al. (2017) | |
| G to T | N/A | intron_variant | - | - | - | 15737702 | Li H , et al. (2005) | |
| c.169-11932G>A | - | intron_variant | - | - | - | 28436202 | Mozzi A , et al. (2017) | |
| c.-10-23398A>G | - | intron_variant | - | - | - | 36284158 | Tielbeek JJ et al. (2022) | |
| c.168+19400_168+19401delTC | - | intron_variant | - | - | - | 30478444 | Demontis D , et al. (2018) |
SFARI Gene score
1
High Confidence
Score Delta: Score remained at 1
criteria met
See SFARI Gene'scoring criteriaWe considered a rigorous statistical comparison between cases and controls, yielding genome-wide statistical significance, with independent replication, to be the strongest possible evidence for a gene. These criteria were relaxed slightly for category 2.
4/1/2022
2
1
Decreased from 2 to 1
10/1/2020
2
2
Decreased from 2 to 2
Description
A significant but unreplicated association study of FOXP2 in ASD has been reported. FOXP2 is mutated in specific language impairment, and also physically interacts with FOXP1, which has been implicated in ASD (PMID: 21572417)
1/1/2020
2
2
Decreased from 2 to 2
Description
A significant but unreplicated association study of FOXP2 in ASD has been reported. FOXP2 is mutated in specific language impairment, and also physically interacts with FOXP1, which has been implicated in ASD (PMID: 21572417)
10/1/2019
3
2
Decreased from 3 to 2
New Scoring Scheme
Description
A significant but unreplicated association study of FOXP2 in ASD has been reported. FOXP2 is mutated in specific language impairment, and also physically interacts with FOXP1, which has been implicated in ASD (PMID: 21572417)
Reports Added
[New Scoring Scheme]7/1/2019
3
3
Decreased from 3 to 3
Description
A significant but unreplicated association study of FOXP2 in ASD has been reported. FOXP2 is mutated in specific language impairment, and also physically interacts with FOXP1, which has been implicated in ASD (PMID: 21572417)
4/1/2019
3
3
Decreased from 3 to 3
Description
A significant but unreplicated association study of FOXP2 in ASD has been reported. FOXP2 is mutated in specific language impairment, and also physically interacts with FOXP1, which has been implicated in ASD (PMID: 21572417)
10/1/2018
3
3
Decreased from 3 to 3
Description
A significant but unreplicated association study of FOXP2 in ASD has been reported. FOXP2 is mutated in specific language impairment, and also physically interacts with FOXP1, which has been implicated in ASD (PMID: 21572417)
7/1/2017
3
3
Decreased from 3 to 3
Description
A significant but unreplicated association study of FOXP2 in ASD has been reported. FOXP2 is mutated in specific language impairment, and also physically interacts with FOXP1, which has been implicated in ASD (PMID: 21572417)
4/1/2017
3
3
Decreased from 3 to 3
Description
A significant but unreplicated association study of FOXP2 in ASD has been reported. FOXP2 is mutated in specific language impairment, and also physically interacts with FOXP1, which has been implicated in ASD (PMID: 21572417)
Reports Added
[FOXP2 is not a major susceptibility gene for autism or specific language impairment.2002] [Evaluation of FOXP2 as an autism susceptibility gene.2002] [Mutation screening of FOXP2 in individuals diagnosed with autistic disorder.2003] [Absence of causative mutations and presence of autism-related allele in FOXP2 in Japanese autistic patients.2005] [No association of FOXP2 and PTPRZ1 on 7q31 with autism from the Japanese population.2005] [Association study of the CNS patterning genes and autism in Han Chinese in Taiwan.2011] [Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders.2011] [Analysis of two language-related genes in autism: a case-control association study of FOXP2 and CNTNAP2.2013] [Association between the FOXP2 gene and autistic disorder in Chinese population.2004] [Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization.2012] [Small intragenic deletion in FOXP2 associated with childhood apraxia of speech and dysarthria.2013] [Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia.2006] [Language features in a mother and daughter of a chromosome 7;13 translocation involving FOXP2.2009] [Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...2012] [A forkhead-domain gene is mutated in a severe speech and language disorder.2001] [Large-scale discovery of novel genetic causes of developmental disorders.2014] [Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits.2005] [Molecular evolution of FOXP2, a gene involved in speech and language.2002] [Speech, prosody, and voice characteristics of a mother and daughter with a 7;13 translocation affecting FOXP2.2006] [Incomplete and inaccurate vocal imitation after knockdown of FoxP2 in songbird basal ganglia nucleus Area X.2007] [Impaired synaptic plasticity and motor learning in mice with a point mutation implicated in human speech deficits.2008] [Expression of FOXP2 in the developing monkey forebrain: comparison with the expression of the genes FOXP1, PBX3, and MEIS2.2008] [Conservation and diversity of Foxp2 expression in muroid rodents: functional implications.2008] [A functional genetic link between distinct developmental language disorders.2008] [A humanized version of Foxp2 affects cortico-basal ganglia circuits in mice.2009] [Human-specific transcriptional regulation of CNS development genes by FOXP2.2009] [FOXP2 targets show evidence of positive selection in European populations.2013] [Comprehensive molecular testing in patients with high functioning autism spectrum disorder.2016] [Foxp2 controls synaptic wiring of corticostriatal circuits and vocal communication by opposing Mef2c.2016] [FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum.2016] [The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.2016] [Functional characterization of rare FOXP2 variants in neurodevelopmental disorder.2016] [Molecular networks implicated in speech-related disorders: FOXP2 regulates the SRPX2/uPAR complex.2010] [The central nervous system patterning gene variants associated with clinical symptom severity of autism spectrum disorders.2017] [Sumoylation of FOXP2 Regulates Motor Function and Vocal Communication Through Purkinje Cell Development.2016] [A common genetic variant in FOXP2 is associated with language-based learning (dis)abilities: Evidence from two Italian independent samples.2017]1/1/2017
3
3
Decreased from 3 to 3
Description
A significant but unreplicated association study of FOXP2 in ASD has been reported. FOXP2 is mutated in specific language impairment, and also physically interacts with FOXP1, which has been implicated in ASD (PMID: 21572417)
Reports Added
[Functional characterization of rare FOXP2 variants in neurodevelopmental disorder.2016] [Molecular networks implicated in speech-related disorders: FOXP2 regulates the SRPX2/uPAR complex.2010] [The central nervous system patterning gene variants associated with clinical symptom severity of autism spectrum disorders.2017]10/1/2016
3
3
Decreased from 3 to 3
Description
A significant but unreplicated association study of FOXP2 in ASD has been reported. FOXP2 is mutated in specific language impairment, and also physically interacts with FOXP1, which has been implicated in ASD (PMID: 21572417)
7/1/2016
3
3
Decreased from 3 to 3
Description
A significant but unreplicated association study of FOXP2 in ASD has been reported. FOXP2 is mutated in specific language impairment, and also physically interacts with FOXP1, which has been implicated in ASD (PMID: 21572417)
1/1/2016
3
3
Decreased from 3 to 3
Description
A significant but unreplicated association study of FOXP2 in ASD has been reported. FOXP2 is mutated in specific language impairment, and also physically interacts with FOXP1, which has been implicated in ASD (PMID: 21572417)
Reports Added
[FOXP2 is not a major susceptibility gene for autism or specific language impairment.2002] [Evaluation of FOXP2 as an autism susceptibility gene.2002] [Mutation screening of FOXP2 in individuals diagnosed with autistic disorder.2003] [Absence of causative mutations and presence of autism-related allele in FOXP2 in Japanese autistic patients.2005] [No association of FOXP2 and PTPRZ1 on 7q31 with autism from the Japanese population.2005] [Association study of the CNS patterning genes and autism in Han Chinese in Taiwan.2011] [Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders.2011] [Analysis of two language-related genes in autism: a case-control association study of FOXP2 and CNTNAP2.2013] [Association between the FOXP2 gene and autistic disorder in Chinese population.2004] [Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization.2012] [Small intragenic deletion in FOXP2 associated with childhood apraxia of speech and dysarthria.2013] [Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia.2006] [Language features in a mother and daughter of a chromosome 7;13 translocation involving FOXP2.2009] [Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...2012] [A forkhead-domain gene is mutated in a severe speech and language disorder.2001] [Large-scale discovery of novel genetic causes of developmental disorders.2014] [Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits.2005] [Molecular evolution of FOXP2, a gene involved in speech and language.2002] [Speech, prosody, and voice characteristics of a mother and daughter with a 7;13 translocation affecting FOXP2.2006] [Incomplete and inaccurate vocal imitation after knockdown of FoxP2 in songbird basal ganglia nucleus Area X.2007] [Impaired synaptic plasticity and motor learning in mice with a point mutation implicated in human speech deficits.2008] [Expression of FOXP2 in the developing monkey forebrain: comparison with the expression of the genes FOXP1, PBX3, and MEIS2.2008] [Conservation and diversity of Foxp2 expression in muroid rodents: functional implications.2008] [A functional genetic link between distinct developmental language disorders.2008] [A humanized version of Foxp2 affects cortico-basal ganglia circuits in mice.2009] [Human-specific transcriptional regulation of CNS development genes by FOXP2.2009] [FOXP2 targets show evidence of positive selection in European populations.2013] [Comprehensive molecular testing in patients with high functioning autism spectrum disorder.2016]1/1/2015
3
3
Decreased from 3 to 3
Description
A significant but unreplicated association study of FOXP2 in ASD has been reported. FOXP2 is mutated in specific language impairment, and also physically interacts with FOXP1, which has been implicated in ASD (PMID: 21572417)
7/1/2014
No data
3
Increased from No data to 3
Description
A significant but unreplicated association study of FOXP2 in ASD has been reported. FOXP2 is mutated in specific language impairment, and also physically interacts with FOXP1, which has been implicated in ASD (PMID: 21572417)
4/1/2014
No data
3
Increased from No data to 3
Description
A significant but unreplicated association study of FOXP2 in ASD has been reported. FOXP2 is mutated in specific language impairment, and also physically interacts with FOXP1, which has been implicated in ASD (PMID: 21572417)
Krishnan Probability Score
Score 0.4932417615921
Ranking 4225/25841 scored genes
[Show Scoring Methodology]
Krishnan and colleagues generated probability scores genome-wide by using a machine learning
approach on a human brain-specific gene network. The method was first presented in Nat
Neurosci 19, 1454-1462 (2016), and scores for more than 25,000 RefSeq genes can be accessed
in column G of supplementary table 3 (see:
http://www.nature.com/neuro/journal/v19/n11/extref/nn.4353-S5.xlsx). A searchable browser,
with the ability to view networks of associated ASD risk genes, can be found at
asd.princeton.edu.
ExAC Score
Score 0.99617883109285
Ranking 1434/18225 scored genes
[Show Scoring Methodology]
The Exome Aggregation Consortium (ExAC) is a summary database of 60,706 exomes that has
been widely used to estimate 'constraint' on mutation for individual genes. It was introduced by
Lek et al. Nature 536, 285-291 (2016), and the ExAC browser can be found at
exac.broadinstitute.org. The pLI score was developed as measure of intolerance to loss-of-
function mutation. A pLI > 0.9 is generally viewed as highly constrained, and thus any loss-of-
function mutations in autism in such a gene would be more likely to confer risk. For a full list of
pLI scores see:
ftp://ftp.broadinstitute.org/pub/ExAC_release/release0.3.1/functional_gene_constraint/fordist_cle
aned_exac_nonTCGA_z_pli_rec_null_data.txt
Sanders TADA Score
Score 0.93899153449755
Ranking 14054/18665 scored genes
[Show Scoring Methodology]
The TADA score ('Transmission and De novo Association') was introduced by He et al. PLoS Genet 9(8):e1003671 (2013),
and is a statistic that integrates evidence from both de novo and transmitted mutations.
It forms the basis for the claim of 65 individual genes being strongly associated with autism risk at a false discovery rate of 0.1 (Sanders et al. Neuron 87, 1215-1233
(2015)). The calculated TADA score for 18,665 RefSeq genes can be found in column P of Supplementary Table 6 in the Sanders et al. paper
(the column headed 'tadaFdrAscSscExomeSscAgpSmallDel'), which represents a combined analysis of exome data and small de novo deletions (see www.cell.com/cms/attachment/2038545319/2052606711/mmc7.xlsx).
Larsen Cumulative Evidence Score
Score 18
Ranking 111/461 scored genes
[Show Scoring Methodology]
Larsen and colleagues generated gene scores based on the sum of evidence for all available
ASD-associated variants in a gene, with assessments based on mode of inheritance, effect size,
and variant frequency in the general population. The approach was first presented in Mol Autism
7:44 (2016), and scores for 461 genes can be found in column I in supplementary table 4 from
that paper.
Zhang D Score
Score 0.36747956931788
Ranking 1815/20870 scored genes
[Show Scoring Methodology]
The DAMAGES score (disease-associated mutation analysis using gene expression signatures),
or D score, was developed to combine evidence from de novo loss-of- function mutation with
evidence from cell-type- specific gene expression in the mouse brain (specifically translational
profiles of 24 specific mouse CNS cell types isolated from 6 different brain regions). Genes with
positive D scores are more likely to be associated with autism risk, with higher-confidence genes
having higher D scores. This statistic was first presented by Zhang & Shen (Hum Mutat 38, 204-
215 (2017), and D scores for more than 20,000 RefSeq genes can be found in column M in
supplementary table 2 from that paper.
External PIN Data
Interactome
- Protein Binding
- DNA Binding
- RNA Binding
- Protein Modification
- Direct Regulation
- ASD-Linked Genes
Interaction Table
| Interactor Symbol | Interactor Name | Interactor Organism | Interactor Type | Entrez ID | Uniprot ID |
|---|---|---|---|---|---|
| 0610006I08RIK | transmembrane protein 223 | Mouse | Protein Binding | 66836 | Q9CQE2 |
| 1110064P04RIK | AHA1, activator of heat shock protein ATPase homolog 2 (yeast) | Mouse | Protein Binding | 268390 | Q8N9S3 |
| 1200013P24RIK | N-acetyltransferase 15 (GCN5-related, putative) | Mouse | Protein Binding | 74763 | Q9DBU2 |
| 1300010M03RIK | family with sequence similarity 134, member C | Mouse | Protein Binding | 67998 | Q9CQV4 |
| 1700009P03RIK | RNA binding motif protein 26 | Mouse | Protein Binding | 74213 | Q6NZN0 |
| 1700054O13RIK | RIKEN cDNA 1700054O13 gene | Mouse | Protein Binding | 67334 | A2AF56 |
| 1810011O10RIK | RIKEN cDNA 1810011O10 gene | Mouse | Protein Binding | 69068 | Q9D915 |
| 1810037C20RIK | family with sequence similarity 3, member A | Mouse | Protein Binding | 66294 | Q9D8T0 |
| 2010321M09RIK | RIKEN cDNA 2010321M09 gene | Mouse | Protein Binding | 69882 | Q8R3P6 |
| 2200002K05RIK | RIKEN cDNA 2200002K05 gene | Mouse | Protein Binding | 69137 | Q9D806 |
| 2310028H24RIK | RIKEN cDNA 2310028H24 gene | Mouse | Protein Binding | 71901 | A2ANP1 |
| 2310057M21RIK | RIKEN cDNA 2310057M21 gene | Mouse | Protein Binding | 68277 | Q9D2Q3 |
| 2310061I09RIK | coiled-coil domain containing 115 | Mouse | Protein Binding | 69668 | Q8VE99 |
| 2510048L02RIK | coiled-coil domain containing 159 | Mouse | Protein Binding | 67119 | Q8C963 |
| 2810002I04RIK | family with sequence similarity 164, member C | Mouse | Protein Binding | 72350 | Q8CCG1 |
| 2810430M08RIK | ribosomal RNA processing 15 homolog (S. cerevisiae) | Mouse | Protein Binding | 67223 | Q9CYX7 |
| 2900041A09RIK | tubulin polymerization promoting protein | Mouse | Protein Binding | 72948 | Q7TQD2 |
| 3110043J09RIK | Rho GTPase activating protein 8 | Mouse | Protein Binding | 73167 | Q9CXP4 |
| 3200002M19RIK | RIKEN cDNA 3200002M19 gene | Mouse | Protein Binding | 75430 | P60007 |
| 4930408O21RIK | PDZ domain containing 9 | Mouse | Protein Binding | 67983 | Q9D9M4 |
| 4933403G14RIK | RIKEN cDNA 4933403G14 gene | Mouse | Protein Binding | 74393 | Q8BJS7 |
| 8430419L09RIK | RIKEN cDNA 8430419L09 gene | Mouse | Protein Binding | 74525 | Q8BYI8 |
| 9230117E20RIK | serine peptidase inhibitor, Kazal type 11 | Mouse | Protein Binding | 78242 | Q9D256 |
| A130033B22 | predicted gene 5094 | Mouse | Protein Binding | 328839 | N/A |
| A530082C11RIK | solute carrier family 35, member E2 | Mouse | Protein Binding | 320541 | Q8C811 |
| A730085E03RIK | RIKEN cDNA A730085E03 gene | Mouse | Protein Binding | 328983 | N/A |
| A930001M12RIK | transmembrane protein 215 | Mouse | Protein Binding | 320500 | A7E1Z1 |
| AARD | alanine and arginine rich domain containing protein | Mouse | Protein Binding | 239435 | Q811W1 |
| ABCA6 | ATP-binding cassette, sub-family A (ABC1), member 6 | Mouse | Protein Binding | 76184 | Q8K441 |
| ALOX12E | arachidonate lipoxygenase, epidermal | Mouse | Protein Binding | 11685 | P55249 |
| ARL11 | ADP-ribosylation factor-like 11 | Mouse | Protein Binding | 219144 | Q6P3A9 |
| ARPM1 | actin related protein M1 | Mouse | Protein Binding | 76652 | Q8BXF8 |
| BATF2 | basic leucine zipper transcription factor, ATF-like 2 | Mouse | Protein Binding | 74481 | Q8R1H8 |
| BC019537 | solute carrier family 17, member 9 | Mouse | Protein Binding | 228993 | Q8VCL5 |
| BC021442 | zinc finger protein 758 | Mouse | Protein Binding | 224598 | E9Q462 |
| BC035954 | cDNA sequence BC035954 | Mouse | Protein Binding | 194162 | N/A |
| BC050188 | tripartite motif family-like 1 | Mouse | Protein Binding | 244448 | Q8BVP1 |
| BET1 | blocked early in transport 1 homolog (S. cerevisiae) | Mouse | Protein Binding | 12068 | O35623 |
| C78339 | expressed sequence C78339 | Mouse | Protein Binding | 97863 | Q3URQ4 |
| CATSPER3 | cation channel, sperm associated 3 | Mouse | Protein Binding | 76856 | Q80W99 |
| CBLN2 | cerebellin 2 precursor protein | Mouse | Protein Binding | 12405 | Q8BGU2 |
| CD53 | CD53 antigen | Mouse | Protein Binding | 12508 | Q61451 |
| CD59A | CD59a antigen | Mouse | Protein Binding | 12509 | O55186 |
| CDC2L6 | cyclin-dependent kinase 19 | Mouse | Protein Binding | 78334 | Q8BWD8 |
| CGA | glycoprotein hormones, alpha subunit | Mouse | Protein Binding | 12640 | P01216 |
| CHRNA1 | cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle) | Mouse | Protein Binding | 11435 | P04756 |
| COL24A1 | collagen, type XXIV, alpha 1 | Mouse | Protein Binding | 71355 | Q30D77 |
| COL3A1 | collagen, type III, alpha 1 | Mouse | Protein Binding | 12825 | P08121 |
| CTRB1 | chymotrypsinogen B1 | Mouse | Protein Binding | 66473 | Q9CR35 |
| D030041N04RIK | leucine zipper-EF-hand containing transmembrane protein 2 | Mouse | Protein Binding | 270035 | Q7TNU7 |
| D11ERTD730E | SLU7 splicing factor homolog (S. cerevisiae) | Mouse | Protein Binding | 193116 | Q8BHJ9 |
| D330045A20RIK | RIKEN cDNA D330045A20 gene | Mouse | Protein Binding | 102871 | Q8C779 |
| D830007B15RIK | shisa homolog 3 (Xenopus laevis) | Mouse | Protein Binding | 330096 | Q3UPR0 |
| DSG4 | Desmoglein-4 | Human | Protein Binding | 147409 | Q86SJ6-2 |
| DSPG3 | epiphycan | Mouse | Protein Binding | 13516 | P70186 |
| EIF3S10 | eukaryotic translation initiation factor 3, subunit A | Mouse | Protein Binding | 13669 | P23116 |
| EMX2 | empty spiracles homolog 2 (Drosophila) | Mouse | Protein Binding | 13797 | Q04744 |
| FAM124A | family with sequence similarity 124A | Human | Protein Binding | 220108 | Q86V42 |
| FGF1 | fibroblast growth factor 1 | Mouse | Protein Binding | 14164 | P61148 |
| FMO2 | flavin containing monooxygenase 2 | Mouse | Protein Binding | 55990 | Q8K2I3 |
| FXYD2 | FXYD domain-containing ion transport regulator 2 | Mouse | Protein Binding | 11936 | Q04646 |
| GALNACT2 | chondroitin sulfate N-acetylgalactosaminyltransferase 2 | Mouse | Protein Binding | 78752 | Q8C1F4 |
| GGN | gametogenetin | Mouse | Protein Binding | 243897 | Q80WJ1 |
| GM1553 | predicted gene 1553 | Mouse | Protein Binding | 432480 | Q66VB7 |
| IL12B | interleukin 12b | Mouse | Protein Binding | 16160 | P43432 |
| KLRE1 | killer cell lectin-like receptor family E member 1 | Mouse | Protein Binding | 243655 | Q8CJC7 |
| LIPC | lipase, hepatic | Mouse | Protein Binding | 15450 | P27656 |
| LOC433178 | serine peptidase inhibitor, Kazal type 14 | Mouse | Protein Binding | 433178 | B9EJP9 |
| LRRC15 | leucine rich repeat containing 15 | Human | Protein Binding | 131578 | Q8TF66 |
| MAGOH | mago-nashi homolog, proliferation-associated (Drosophila) | Mouse | Protein Binding | 17149 | P61327 |
| MMU-LET-7A-1 | microRNA let7a-1 | Mouse | Protein Binding | 387244 | N/A |
| MMU-MIR-137 | microRNA 137 | Mouse | Protein Binding | 387155 | N/A |
| MMU-MIR-19B-1 | microRNA 19b-2 | Mouse | Protein Binding | 387195 | N/A |
| MMU-MIR-469 | microRNA 469 | Mouse | Protein Binding | 723872 | N/A |
| NRN1 | neuritin 1 | Mouse | Protein Binding | 68404 | Q8CFV4 |
| NSG1 | neuron specific gene family member 1 | Mouse | Protein Binding | 18196 | Q62092 |
| OC90 | otoconin 90 | Mouse | Protein Binding | 18256 | Q9Z0L3 |
| OLFR113 | olfactory receptor 113 | Mouse | Protein Binding | 258286 | Q8VEU4 |
| OLFR1184 | olfactory receptor 1184 | Mouse | Protein Binding | 258820 | Q8VG86 |
| OLFR131 | olfactory receptor 131 | Mouse | Protein Binding | 258867 | Q8VGC8 |
| OLFR1388 | olfactory receptor 1388 | Mouse | Protein Binding | 258459 | Q8VFA3 |
| OLFR139 | olfactory receptor 139 | Mouse | Protein Binding | 259005 | Q60891 |
| OLFR1465 | olfactory receptor 1465 | Mouse | Protein Binding | 258121 | Q7TQR2 |
| OLFR26 | olfactory receptor 26 | Mouse | Protein Binding | 18324 | Q7TRB7 |
| OLFR284 | olfactory receptor 284 | Mouse | Protein Binding | 258278 | Q8VET7 |
| OLFR305 | olfactory receptor 305 | Mouse | Protein Binding | 258609 | Q7TS02 |
| OLFR461 | olfactory receptor 461 | Mouse | Protein Binding | 258380 | Q8VF30 |
| OLFR487 | olfactory receptor 487 | Mouse | Protein Binding | 258042 | Q7TRU9 |
| OLFR711 | olfactory receptor 711 | Mouse | Protein Binding | 259037 | Q9EPG2 |
| OLFR723 | olfactory receptor 723 | Mouse | Protein Binding | 259147 | E9PZU2 |
| OLFR978 | olfactory receptor 978 | Mouse | Protein Binding | 259109 | E9Q985 |
| PBEF1 | nicotinamide phosphoribosyltransferase | Mouse | Protein Binding | 59027 | Q99KQ4 |
| PCDHA2 | protocadherin alpha 2 | Mouse | Protein Binding | 353234 | Q05C01 |
| PCOLN3 | chromatin modifying protein 1A | Mouse | Protein Binding | 234852 | Q921W0 |
| PIGC | phosphatidylinositol glycan anchor biosynthesis, class C | Mouse | Protein Binding | 67292 | Q9CXR4 |
| PKDREJ | polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin) | Mouse | Protein Binding | 18766 | Q9Z0T6 |
| PKP3 | Plakophilin-3 | Human | Protein Binding | 11187 | Q9Y446 |
| PLA2G10 | phospholipase A2, group X | Mouse | Protein Binding | 26565 | Q9QXX3 |
| PRLPM | prolactin family 2, subfamily a, member 1 | Mouse | Protein Binding | 56635 | Q9JHK0 |
| PRMT4 | coactivator-associated arginine methyltransferase 1 | Mouse | Protein Binding | 59035 | Q9WVG6 |
| PRSS2 | protease, serine, 2 | Mouse | Protein Binding | 22072 | P07146 |
| PSTK | phosphoseryl-tRNA kinase | Mouse | Protein Binding | 214580 | Q8BP74 |
| PTTG1 | pituitary tumor-transforming gene 1 | Mouse | Protein Binding | 30939 | Q9CQJ7 |
| RAB3C | RAB3C, member RAS oncogene family | Mouse | Protein Binding | 67295 | P62823 |
| RAB9B | RAB9B, member RAS oncogene family | Mouse | Protein Binding | 319642 | Q8BHH2 |
| RHOJ | ras homolog gene family, member J | Mouse | Protein Binding | 80837 | Q9ER71 |
| RLN1 | relaxin 1 | Mouse | Protein Binding | 19773 | A2RTV8 |
| RNF17 | ring finger protein 17 | Mouse | Protein Binding | 30054 | Q99MV7 |
| ROBO4 | roundabout homolog 4 (Drosophila) | Mouse | Protein Binding | 74144 | Q8C310 |
| S100A2 | S100 calcium binding protein A2 | Human | Protein Binding | 6273 | P29034 |
| SEMA6D | sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D | Mouse | Protein Binding | 214968 | Q76KF0 |
| SLC12A9 | solute carrier family 12 (potassium/chloride transporters), member 9 | Mouse | Protein Binding | 83704 | Q99MR3 |
| SLC13A3 | solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 | Mouse | Protein Binding | 114644 | Q91Y63 |
| SLC14A1 | solute carrier family 14 (urea transporter), member 1 | Mouse | Protein Binding | 108052 | Q8VHL0 |
| SLC22A6 | solute carrier family 22 (organic anion transporter), member 6 | Mouse | Protein Binding | 18399 | Q8VC69 |
| SLC24A1 | solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 | Mouse | Protein Binding | 214111 | Q91WD8 |
| SMC5L1 | structural maintenance of chromosomes 5 | Mouse | Protein Binding | 226026 | Q8CG46 |
| SPATA17 | spermatogenesis associated 17 | Mouse | Protein Binding | 74717 | Q9D552 |
| SPESP1 | sperm equatorial segment protein 1 | Mouse | Protein Binding | 66712 | Q9D5A0 |
| SRPX2 | sushi-repeat containing protein, X-linked 2 | Human | DNA Binding | 27286 | O60687 |
| STEAP1 | six transmembrane epithelial antigen of the prostate 1 | Mouse | Protein Binding | 70358 | Q9CWR7 |
| SVS1 | seminal vesicle secretory protein 1 | Mouse | Protein Binding | 243377 | Q6WIZ7 |
| TAAR5 | trace amine-associated receptor 5 | Mouse | Protein Binding | 215854 | Q5QD14 |
| TBC1D19 | TBC1 domain family, member 19 | Mouse | Protein Binding | 67249 | Q8VDV7 |
| TCFAP2D | transcription factor AP-2, delta | Mouse | Protein Binding | 226896 | Q91ZK0 |
| TCTE1 | t-complex-associated testis expressed 1 | Mouse | Protein Binding | 21645 | A6H639 |
| TMEM55A | transmembrane protein 55A | Mouse | Protein Binding | 72519 | Q9CZX7 |
| TRAF3IP3 | TRAF3 interacting protein 3 | Mouse | Protein Binding | 215243 | Q8C0G2 |
| TSACC | TSSK6 activating co-chaperone | Human | Protein Binding | 128229 | Q96A04 |
| TSPAN10 | tetraspanin 10 | Mouse | Protein Binding | 208634 | Q8VCF5 |
| V1RB1 | vomeronasal 1 receptor 50 | Mouse | Protein Binding | 113852 | Q9EP51 |
| WBP5 | WW domain binding protein 5 | Mouse | Protein Binding | 22381 | Q9DD24 |
| ZCCHC5 | zinc finger, CCHC domain containing 5 | Mouse | Protein Binding | 213436 | Q6P1Y1 |
| ZFP248 | zinc finger protein 248 | Mouse | Protein Binding | 72720 | Q640N4 |
| ZFP36 | zinc finger protein 36 | Mouse | Protein Binding | 22695 | P22893 |
| ZFP521 | zinc finger protein 521 | Mouse | Protein Binding | 225207 | Q6KAS7 |
| ZSWIM2 | zinc finger, SWIM domain containing 2 | Mouse | Protein Binding | 71861 | Q9D9X6 |