Human Gene Module / Chromosome 7 / CNTNAP2

CNTNAP2contactin associated protein-like 2

Score
2S
Strong Evidence, Syndromic Criteria 2.1, Syndromic
Autism Reports / Total Reports
25 / 54
Rare Variants / Common Variants
79 / 30
Aliases
CNTNAP2, CDFE,  NRXN4,  CASPR2,  DKFZp781D1846
Associated Syndromes
Cortical dysplasia-focal epilepsy syndrome
Genetic Category
Rare Single Gene Mutation, Syndromic, Genetic Association
Chromosome Band
7q35-q36.1
Associated Disorders
Epilepsy, ID, epilepsy, TS (2/3 cases), MR (2/3 cases), ID, ASD, ASD, Epilepsy/seizures, ID, ADHD, ASD, epilepsy/seizures, ADHD, ID
Relevance to Autism

Several studies have found a genetic association of the CNTNAP2 gene with autism. Among these, one study (Li et al., 2010) found positive association with the Chinese Han population. In addition, rare variants in the CNTNAP2 gene, including deletions and nonsynonymous changes, are also suggested to play a role in autism, ID, DD and language impairment. Interestingly, positive associations with CNTNAP2 and selective mutism, epilepsy and specific language impairment have also been found.

Molecular Function

This gene encodes a member of the neurexin family which functions in the vertebrate nervous system as cell adhesion molecules and receptors. This protein is localized at the juxtaparanodes of myelinated axons and associated with potassium channels.

Reports related to CNTNAP2 (54 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Highly Cited Caspr2, a new member of the neurexin superfamily, is localized at the juxtaparanodes of myelinated axons and associates with K+ channels. Poliak S , et al. (2000) No -
2 Support CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder. Verkerk AJ , et al. (2003) No TS (2/3 cases), MR (2/3 cases)
3 Support Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. Strauss KA , et al. (2006) No ID, ADHD, ASD, epilepsy/seizures
4 Support CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy. Friedman JI , et al. (2007) No Epilepsy
5 Positive Association Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. Alarcn M , et al. (2008) Yes -
6 Primary A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism. Arking DE , et al. (2008) Yes -
7 Support Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders. Bakkaloglu B , et al. (2008) Yes -
8 Positive Association A functional genetic link between distinct developmental language disorders. Vernes SC , et al. (2008) Yes -
9 Recent Recommendation Multiple molecular interactions determine the clustering of Caspr2 and Kv1 channels in myelinated axons. Horresh I , et al. (2008) No -
10 Recent Recommendation Contactin-associated protein (Caspr) 2 interacts with carboxypeptidase E in the CNS. Oiso S , et al. (2009) No -
11 Support Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder. Poot M , et al. (2009) Yes -
12 Support CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in D... Zweier C , et al. (2009) No Epilepsy
13 Recent Recommendation Organization of myelinated axons by Caspr and Caspr2 requires the cytoskeletal adapter protein 4.1B. Horresh I , et al. (2010) No -
14 Recent Recommendation Normal variation in fronto-occipital circuitry and cerebellar structure with an autism-associated polymorphism of CNTNAP2. Tan GC , et al. (2010) No -
15 Positive Association Association analysis of CNTNAP2 polymorphisms with autism in the Chinese Han population. Li X , et al. (2010) Yes -
16 Recent Recommendation Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. Mefford HC , et al. (2010) No ASD
17 Recent Recommendation Altered functional connectivity in frontal lobe circuits is associated with variation in the autism risk gene CNTNAP2. Scott-Van Zeeland AA , et al. (2010) No -
18 Support Identification of a microdeletion at the 7q33-q35 disrupting the CNTNAP2 gene in a Brazilian stuttering case. Petrin AL , et al. (2010) Yes -
19 Recent Recommendation A common genetic variant in the neurexin superfamily member CNTNAP2 is associated with increased risk for selective mutism and social anxiety-relat... Stein MB , et al. (2011) No -
20 Positive Association CNTNAP2 variants affect early language development in the general population. Whitehouse AJ , et al. (2011) Yes -
21 Support Reduced transcript expression of genes affected by inherited and de novo CNVs in autism. Nord AS , et al. (2011) Yes -
22 Support Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. O'Roak BJ , et al. (2011) Yes -
23 Recent Recommendation Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1. Gregor A , et al. (2011) No -
24 Recent Recommendation Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits. Peagarikano O , et al. (2011) No -
25 Recent Recommendation Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental... Mikhail FM , et al. (2011) No ID
26 Support Rare copy number variants are an important cause of epileptic encephalopathies. Mefford HC , et al. (2011) No ID, ASD
27 Support Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi... Lesca G , et al. (2012) No ADHD
28 Recent recommendation Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization. Laffin JJ , et al. (2012) No -
29 Positive association Individual common variants exert weak effects on the risk for autism spectrum disorderspi. Anney R , et al. (2012) Yes -
30 Recent Recommendation Candidate autism gene screen identifies critical role for cell-adhesion molecule CASPR2 in dendritic arborization and spine development. Anderson GR , et al. (2012) No -
31 Support Amino-Terminal Microdeletion within the CNTNAP2 Gene Associated with Variable Expressivity of Speech Delay. Al-Murrani A , et al. (2012) No -
32 Support A discovery resource of rare copy number variations in individuals with autism spectrum disorder. Prasad A , et al. (2013) Yes -
33 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 -
34 Support Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder. Girirajan S , et al. (2013) Yes -
35 Recent Recommendation CNTNAP2 polymorphisms and structural brain connectivity: a diffusion-tensor imaging study. Clemm von Hohenberg C , et al. (2013) No -
36 Support Performance comparison of bench-top next generation sequencers using microdroplet PCR-based enrichment for targeted sequencing in patients with aut... Koshimizu E , et al. (2013) Yes ID, epilepsy
37 Support Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech. Worthey EA , et al. (2013) No -
38 Positive Association Defining the contribution of CNTNAP2 to autism susceptibility. Sampath S , et al. (2013) Yes -
39 Support Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families. Egger G , et al. (2014) Yes -
40 Support Diagnostic whole genome sequencing and split-read mapping for nucleotide resolution breakpoint identification in CNTNAP2 deficiency syndrome. Watson CM , et al. (2014) No Epilepsy
41 Positive association Variants of the CNTNAP2 5' promoter as risk factors for autism spectrum disorders: a genetic and functional approach. Chiocchetti AG , et al. (2014) Yes -
42 Positive association A candidate gene association study further corroborates involvement of contactin genes in autism. Poot M (2014) Yes -
43 Negative association No evidence for association of autism with rare heterozygous point mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contacti... Murdoch JD , et al. (2015) Yes -
44 Support Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. Karaca E , et al. (2015) No Epilepsy/seizures
45 Negative association CNTNAP2 gene in high functioning autism: no association according to family and meta-analysis approaches. Werling AM , et al. (2015) Yes -
46 Recent recommendation Estrogens Suppress a Behavioral Phenotype in Zebrafish Mutants of the Autism Risk Gene, CNTNAP2. Hoffman EJ , et al. (2016) No -
47 Support Characterisation of CASPR2 deficiency disorder - a syndrome involving autism, epilepsy and language impairment. Rodenas-Cuadrado P , et al. (2016) Yes -
48 Support Comprehensive molecular testing in patients with high functioning autism spectrum disorder. Alvarez-Mora MI , et al. (2016) Yes -
49 Positive association Single nucleotide polymorphisms in the CNTNAP2 gene in Brazilian patients with autistic spectrum disorder. Nascimento PP , et al. (2016) Yes -
50 Support Characterization of molecular and cellular phenotypes associated with a heterozygous CNTNAP2 deletion using patient-derived hiPSC neural cells. Lee IS , et al. (2016) No -
51 Support Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and... Smogavec M , et al. (2016) No -
52 Support Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior. Doan RN , et al. (2016) Yes -
53 Support Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. Parrini E , et al. (2016) No -
54 Support Associations between the CNTNAP2 gene, dorsolateral prefrontal cortex, and cognitive performance on the Stroop task. Zhu B , et al. (2016) No -
Rare Variants   (79)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type Author, Year
- - complex_structural_alteration Familial Paternal Multi-generational Verkerk AJ , et al. (2003)
c.[3709delG];[3709delG] p.[Asp1237IlefsTer17];[Asp1237IlefsTer17] frameshift_variant Familial Both parents - Strauss KA , et al. (2006)
- - copy_number_loss Unknown - Simplex Friedman JI , et al. (2007)
- - copy_number_loss Familial Paternal Multiplex Alarcn M , et al. (2008)
c.1220A>G p.Asn407Ser missense_variant - - - Bakkaloglu B , et al. (2008)
c.1252A>G p.Asn418Asp missense_variant - - - Bakkaloglu B , et al. (2008)
c.2147A>G p.Tyr716Cys missense_variant - - - Bakkaloglu B , et al. (2008)
c.2191G>A p.Gly731Ser missense_variant Familial Paternal Simplex Bakkaloglu B , et al. (2008)
c.2606T>C p.Ile869Thr missense_variant Familial Paternal Multiplex Bakkaloglu B , et al. (2008)
c.2606T>C p.Ile869Thr missense_variant Familial Maternal Simplex Bakkaloglu B , et al. (2008)
c.2606T>C p.Ile869Thr missense_variant Familial Paternal Simplex Bakkaloglu B , et al. (2008)
c.2717G>A p.Arg906His missense_variant Familial Paternal Multiplex Bakkaloglu B , et al. (2008)
c.3356G>A p.Arg1119His missense_variant Familial Paternal Multiplex Bakkaloglu B , et al. (2008)
c.3385G>C p.Asp1129His missense_variant Familial Paternal Multiplex Bakkaloglu B , et al. (2008)
c.3679G>A p.Ala1227Thr missense_variant Familial Maternal & paternal Multi-generational Bakkaloglu B , et al. (2008)
c.3758T>C p.Ile1253Thr missense_variant Familial Maternal Multiplex Bakkaloglu B , et al. (2008)
c.3833C>T p.Thr1278Ile missense_variant Familial Maternal Simplex Bakkaloglu B , et al. (2008)
- - complex_structural_alteration De novo - Simplex Poot M , et al. (2009)
- - copy_number_loss Familial Both parents Multiplex Zweier C , et al. (2009)
- - copy_number_loss Familial Maternal Simplex Zweier C , et al. (2009)
IVS10-1G>T - splice_site_variant Familial Paternal Simplex Zweier C , et al. (2009)
- - copy_number_loss Familial Paternal - Mefford HC , et al. (2010)
- - copy_number_loss Unknown - Simplex Petrin AL , et al. (2010)
- - copy_number_loss Familial Maternal - Nord AS , et al. (2011)
c.824A>G p.His275Arg missense_variant Familial - Simplex O'Roak BJ , et al. (2011)
G1083A N/A splice_site_variant Familial Paternal - Gregor A , et al. (2011)
G1083A N/A splice_site_variant Familial Maternal - Gregor A , et al. (2011)
c.1175_1176dup p.Asp393ArgfsTer51 frameshift_variant Familial Paternal - Gregor A , et al. (2011)
c.2153G>A p.Trp718Ter stop_gained - - - Gregor A , et al. (2011)
- - copy_number_loss Familial Maternal - Gregor A , et al. (2011)
- - copy_number_loss Familial Maternal - Gregor A , et al. (2011)
- - copy_number_loss De novo - - Gregor A , et al. (2011)
- - copy_number_loss - - - Mikhail FM , et al. (2011)
- - copy_number_loss Familial Both parents Multiplex Mefford HC , et al. (2011)
- - copy_number_gain Familial Maternal Unknown Lesca G , et al. (2012)
- - copy_number_loss Unknown - Simplex Laffin JJ , et al. (2012)
c.98_550del p.Gln33_Trp184delinsArg copy_number_loss Familial Maternal Multiplex Al-Murrani A , et al. (2012)
- - copy_number_gain Unknown - Unknown Prasad A , et al. (2013)
- - copy_number_gain Familial Maternal Simplex Girirajan S , et al. (2013)
- - copy_number_loss Familial Paternal Simplex Girirajan S , et al. (2013)
c.1276C>A p.Leu426Ile missense_variant Unknown - Unknown Koshimizu E , et al. (2013)
c.1448G>A p.Arg483Gln missense_variant Unknown - Unknown Koshimizu E , et al. (2013)
c.511C>T p.Arg171Cys missense_variant Unknown - Unknown Worthey EA , et al. (2013)
c.3714_3717insTTG - intron_variant Unknown - Unknown Worthey EA , et al. (2013)
- - copy_number_loss Unknown - - Egger G , et al. (2014)
- - copy_number_loss Familial Both parents Multi-generational Watson CM , et al. (2014)
c.-215G>A - 2KB_upstream_variant Familial Paternal Simplex Chiocchetti AG , et al. (2014)
c.158C>G p.Ser53Cys missense_variant Unknown - Simplex Murdoch JD , et al. (2015)
c.338A>G p.Tyr113Cys missense_variant Unknown - Simplex Murdoch JD , et al. (2015)
c.416A>G p.Asn139Ser missense_variant Unknown - Simplex Murdoch JD , et al. (2015)
c.824A>G p.His275Arg missense_variant Unknown - Simplex Murdoch JD , et al. (2015)
c.963C>A p.Phe321Leu missense_variant Unknown - Simplex Murdoch JD , et al. (2015)
c.1051G>A p.Ala351Thr missense_variant Unknown - Simplex Murdoch JD , et al. (2015)
c.2123T>C p.Val708Ala missense_variant Unknown - Simplex Murdoch JD , et al. (2015)
c.2205C>A p.Asn735Lys missense_variant Unknown - Simplex Murdoch JD , et al. (2015)
c.2288A>G p.Asp763Gly missense_variant Unknown - Simplex Murdoch JD , et al. (2015)
c.2476T>G p.Tyr826Asp missense_variant Unknown - Simplex Murdoch JD , et al. (2015)
c.2657C>T p.Thr886Ile missense_variant Unknown - Simplex Murdoch JD , et al. (2015)
c.2698C>T p.Arg900Trp missense_variant Unknown - Simplex Murdoch JD , et al. (2015)
c.3080G>C p.Arg1027Thr missense_variant Unknown - Simplex Murdoch JD , et al. (2015)
c.3131C>T p.Pro1044Leu missense_variant Unknown - Simplex Murdoch JD , et al. (2015)
c.3470T>C p.Val1157Ala missense_variant Unknown - Simplex Murdoch JD , et al. (2015)
c.3674C>T p.Ser1225Leu missense_variant Unknown - Simplex Murdoch JD , et al. (2015)
c.3758T>C p.Ile1253Thr missense_variant Unknown - Simplex Murdoch JD , et al. (2015)
c.860G>A p.Ser287Asn missense_variant Unknown - Simplex Murdoch JD , et al. (2015)
c.3305T>C p.Val1102Ala missense_variant Unknown - Simplex Murdoch JD , et al. (2015)
- - copy_number_loss;copy_number_loss Familial Both parents Multiplex Karaca E , et al. (2015)
- - copy_number_loss;copy_number_loss Familial Both parents Multiplex Rodenas-Cuadrado P , et al. (2016)
- p.Asp1073Val missense_variant Familial Paternal Multi-generational Alvarez-Mora MI , et al. (2016)
- - copy_number_loss Familial Paternal Simplex Lee IS , et al. (2016)
c.[1480G>T];[1480G>T] p.[Glu494Ter];[Glu494Ter] stop_gained;stop_gained Familial Both parents Simplex Smogavec M , et al. (2016)
c.3046C>T p.Arg1016Ter copy_number_loss;stop_gained Familial - Simplex Smogavec M , et al. (2016)
- - copy_number_loss;copy_number_loss Familial - Simplex Smogavec M , et al. (2016)
c.2963delC p.Cys989AlafsTer45 copy_number_loss;frameshift_variant Familial - Multiplex Smogavec M , et al. (2016)
- - copy_number_loss;copy_number_gain Familial - Possible multi-generational Smogavec M , et al. (2016)
c.[2046C>A];[2046C>A] p.[Cys682Ter];[Cys682Ter] stop_gained;stop_gained Familial Both parents Multiplex Smogavec M , et al. (2016)
delG - intron_variant - - Unknown Doan RN , et al. (2016)
T>C - intergenic_variant - - Unknown Doan RN , et al. (2016)
c.[1777+2T>C];[1777+2T>C] - splice_site_variant;splice_site_variant - - - Parrini E , et al. (2016)
Common Variants   (30)
Status Allele Change Residue Change Variant Type Inheritance Pattern Paternal Transmission Family Type Author, Year
c.2099-26267A>G;c.587-26267A>G N/A intron_variant - - - Alarcn M , et al. (2008)
c.208+18133A>T - intron_variant - - - Arking DE , et al. (2008)
c.2099-73751C>T;c.587-73751C>T A/G intron_variant - - - Vernes SC , et al. (2008)
c.2099-45850C>T;c.587-45850C>T - intron_variant - - - Vernes SC , et al. (2008)
c.2099-26267A>G;c.587-26267A>G C/T intron_variant - - - Vernes SC , et al. (2008)
c.2099-25545A>C;c.587-25545A>C G to T intron_variant - - - Vernes SC , et al. (2008)
c.2099-24246C>T;c.587-24246C>T T to C intron_variant - - - Vernes SC , et al. (2008)
c.2099-21038A>C;c.587-21038A>C C/A intron_variant - - - Vernes SC , et al. (2008)
c.2099-18352A>G;c.587-18352A>G - intron_variant - - - Vernes SC , et al. (2008)
c.2099-14838T>C;c.587-14838T>C G/A intron_variant - - - Vernes SC , et al. (2008)
c.2099-3491T>C;c.587-3491T>C A to G intron_variant - - - Vernes SC , et al. (2008)
c.2255+959T>A;c.743+959T>A A/T intron_variant - - - Vernes SC , et al. (2008)
c.1348+50804A>G - intron_variant - - - Li X , et al. (2010)
c.2099-26267A>G;c.587-26267A>G N/A intron_variant - - - Stein MB , et al. (2011)
c.1349-83693C>T G/A intron_variant - - - Whitehouse AJ , et al. (2011)
c.2099-26267A>G;c.587-26267A>G C/T intron_variant - - - Whitehouse AJ , et al. (2011)
c.2099-25545A>C;c.587-25545A>C G to T intron_variant - - - Whitehouse AJ , et al. (2011)
c.2099-18352A>G;c.587-18352A>G - intron_variant - - - Whitehouse AJ , et al. (2011)
c.2099-14838T>C;c.587-14838T>C G/A intron_variant - - - Whitehouse AJ , et al. (2011)
c.2255+959T>A;c.743+959T>A A/G intron_variant - - - Whitehouse AJ , et al. (2011)
c.97+308723T>C - intron_variant - - - Anney R , et al. (2012)
c.2255+31322G>C;c.743+31322G>C G/C intron_variant - - - Sampath S , et al. (2013)
c.2255+31088A>G;c.743+31088A>G - intron_variant - - - Sampath S , et al. (2013)
c.-876A>G - 2KB_upstream_variant - - - Chiocchetti AG , et al. (2014)
GCG[6]/GCG[7] - trinucleotide_repeat_microsatellite_feature - - - Chiocchetti AG , et al. (2014)
c.403-21804C>T Allele 1, A; allele 2, G intron_variant - - - Poot M (2014)
c.402+30643C>T - intron_variant - - - Poot M (2014)
c.403-32955T>G A/C intron_variant - - - Poot M (2014)
c.208+18133A>T - intron_variant - - - Werling AM , et al. (2015)
c.208+18133A>T - intron_variant - - - Nascimento PP , et al. (2016)
SFARI Gene score
2S

Strong Evidence, Syndromic

Syndromic because of apparent causative mutations in focal epilepsy and Pitt-Hopkins syndrome. Multiple lines of evidence point to CNTNAP2 in autism, including common SNP association to autism diagnosis (Arking et al., 2008; PMID: 18179894 and Anney et al, 2012; PMID: 22843504), a modest increase in the burden of rare variants identified by re-sequencing in individuals with autism (Bakkaloglu et al., 2008; PMID: 18179895), and common SNP association with quantitative language phenotype in individuals with autism (Alarcon et al., 2008; PMID: 18179893). Imaging evidence indicates that the language-associated SNP alters functional connectivity in the cerebral cortex (Vernes et al., 2008; PMID: 18987363; Scott-Van Zeeland et al., 2010; PMID: 21048216).

2

Strong Confidence

See all Category 2 Genes

We 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.

The syndromic category includes mutations that are associated with a substantial degree of increased risk and consistently linked to additional characteristics not required for an ASD diagnosis. If there is independent evidence implicating a gene in idiopathic ASD, it will be listed as "#S" (e.g., 2S, 3S, etc.). If there is no such independent evidence, the gene will be listed simply as "S."

01-01-2017
2S

Initial score established: 2S

Description

Syndromic because of apparent causative mutations in focal epilepsy and Pitt-Hopkins syndrome. Multiple lines of evidence point to CNTNAP2 in autism, including common SNP association to autism diagnosis (Arking et al., 2008; PMID: 18179894 and Anney et al, 2012; PMID: 22843504), a modest increase in the burden of rare variants identified by re-sequencing in individuals with autism (Bakkaloglu et al., 2008; PMID: 18179895), and common SNP association with quantitative language phenotype in individuals with autism (Alarcon et al., 2008; PMID: 18179893). Imaging evidence indicates that the language-associated SNP alters functional connectivity in the cerebral cortex (Vernes et al., 2008; PMID: 18987363; Scott-Van Zeeland et al., 2010; PMID: 21048216).

Reports Added
[h] [A]
CNVs associated with CNTNAP2(24 CNVs)
1q21.1 43 Deletion-Duplication 74  /  899
1q21.1-q21.2 9 Duplication 15  /  43
1q21.2 14 Deletion-Duplication 23  /  29
2q22.3 4 Deletion 8  /  13
2q22.3-q23.1 7 Deletion 9  /  18
2q22.3-q23.3 2 Deletion 3  /  2
2q22.3-q24.1 1 Deletion 2  /  1
3q22.2-q24 1 Deletion 2  /  1
3q24 12 Deletion-Duplication 22  /  40
4q26-q31.22 1 Deletion 2  /  1
4q31.23 4 Deletion-Duplication 7  /  10
6q24.3 10 Deletion 17  /  26
6q24.3-q25.1 1 Deletion 2  /  1
7q35-q36.1 4 Deletion-Duplication 7  /  5
8p23.3-q24.3 1 Duplication 2  /  4
8q22.1-q24.3 1 Duplication 2  /  1
8q23.3-q24.3 1 Duplication 2  /  1
8q24.13-q24.3 1 Duplication 2  /  1
8q24.21-q24.3 1 Duplication 2  /  1
8q24.23-q24.3 1 Duplication 1  /  1
8q24.3 28 Deletion-Duplication 41  /  138
Xq27.2-q28 1 Deletion 1  /  1
Xq27.3-q28 5 Deletion 7  /  9
Xq28 44 Deletion-Duplication 60  /  376
Interaction Table
Interactor Symbol Interactor Name Interactor Organism Interactor Type Entrez ID Uniprot ID
ADAM11 Disintegrin and metalloproteinase domain-containing protein 11 Mouse Protein Binding 11488 Q9R1V4
ADAM22 Disintegrin and metalloproteinase domain-containing protein 22 Mouse Protein Binding 11496 Q9R1V6
ADAM23 Disintegrin and metalloproteinase domain-containing protein 23 Mouse Protein Binding 23792 Q9R1V7
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family) Mouse Protein Binding 12361 O70589
CKMT1 Creatine kinase U-type, mitochondrial Mouse Protein Binding 12716 P30275
CNTN2 contactin 2 (axonal) Human Protein Binding 6900 Q02246
KCNA1 Potassium voltage-gated channel subfamily A member 1 Mouse Protein Binding 16485 P16388
KCNA2 potassium voltage-gated channel, shaker-related subfamily, member 2 Mouse Protein Binding 16490 P63141
KCNA3 Potassium voltage-gated channel subfamily D member 3 Mouse Protein Binding 56543 Q9Z0V1
KCNA4 potassium voltage-gated channel, shaker-related subfamily, member 4 Mouse Protein Binding 16492 Q61423
KCNA6 Potassium voltage-gated channel subfamily A member 6 Mouse Protein Binding 16494 Q61923
KCNAB2 Voltage-gated potassium channel subunit beta-2 Mouse Protein Binding 16498 P62482
LGI2 leucine-rich repeat LGI family, member 2 Mouse Protein Binding 246316 Q8K4Z0
LGI3 Leucine-rich repeat LGI family member 3 Mouse Protein Binding 213469 Q8K406
LGI4 Leucine-rich repeat LGI family member 4 Mouse Protein Binding 243914 Q8K1S1
Mpdz multiple PDZ domain protein Rat Protein Binding 29365 O55164
PDIA3 protein disulfide isomerase family A, member 3 Human Protein Binding 2923 P30101
STOX1 storkhead box 1 Human DNA Binding 219736 Q6ZVD7
TPI1 Triosephosphate isomerase Mouse Protein Binding 21991 P17751
Submit New Gene

Report an Error