Human Gene Module / Chromosome 7 / RELN

RELNReelin

Score
1
High Confidence Criteria 1.1
Autism Reports / Total Reports
22 / 41
Rare Variants / Common Variants
85 / 7
Aliases
RELN, PRO1598,  RL
Associated Syndromes
-
Genetic Category
Rare Single Gene Mutation, Syndromic, Genetic Association, Functional
Chromosome Band
7q22.1
Associated Disorders
DD/NDD, ID, EPS
Relevance to Autism

Several studies have found a genetic association between the RELN gene and autism. Positive associations have been found in the Italian and US populations (Persico et al., 2001), the Chinese Han population and Caucasian AGRE families. Several studies have also revealed lack of association between RELN and autism in a number of cohorts, including IMGSAC, CPEA, German and Chinese Han populations. In addition, rare mutations in the RELN gene have been identified in individuals with ASD (Neale et al., 2012).

Molecular Function

This gene encodes a large secreted extracellular matrix protein thought to control cell-cell interactions critical for cell positioning and neuronal migration during brain development.

Reports related to RELN (41 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Highly Cited Proteins of the CNR family are multiple receptors for Reelin. Senzaki K , et al. (1999) No -
2 Primary Reelin gene alleles and haplotypes as a factor predisposing to autistic disorder. Persico AM , et al. (2001) Yes -
3 Negative Association Absence of association between a polymorphic GGC repeat in the 5' untranslated region of the reelin gene and autism. Krebs MO , et al. (2002) Yes -
4 Negative Association Analysis of reelin as a candidate gene for autism. Bonora E , et al. (2003) Yes -
5 Negative Association Alleles of a reelin CGG repeat do not convey liability to autism in a sample from the CPEA network. Devlin B , et al. (2004) Yes -
6 Negative Association Lack of evidence for an association between WNT2 and RELN polymorphisms and autism. Li J , et al. (2004) Yes -
7 Positive Association Analysis of the RELN gene as a genetic risk factor for autism. Skaar DA , et al. (2004) Yes -
8 Positive Association Association of Reelin gene polymorphisms with autism. Serajee FJ , et al. (2005) Yes -
9 Recent Recommendation Layer acquisition by cortical GABAergic interneurons is independent of Reelin signaling. Pla R , et al. (2006) No -
10 Recent Recommendation Structure of a signaling-competent reelin fragment revealed by X-ray crystallography and electron tomography. Nogi T , et al. (2006) No -
11 Recent Recommendation NMDA receptor surface trafficking and synaptic subunit composition are developmentally regulated by the extracellular matrix protein Reelin. Groc L , et al. (2007) No -
12 Positive Association The association analysis of RELN and GRM8 genes with autistic spectrum disorder in Chinese Han population. Li H , et al. (2007) Yes -
13 Recent Recommendation Expression of reelin, its receptors and its intracellular signaling protein, Disabled1 in the canary brain: relationships with the song control sys... Balthazart J , et al. (2008) No -
14 Recent Recommendation Heterozygous reeler mice exhibit alterations in sensorimotor gating but not presynaptic proteins. Barr AM , et al. (2008) No -
15 Recent Recommendation Neocortical RELN promoter methylation increases significantly after puberty. Lintas C and Persico AM (2009) No -
16 Positive Association Polymorphisms of candidate genes in Slovak autistic patients. Kelemenova S , et al. (2010) Yes -
17 Positive Association Linkage and candidate gene studies of autism spectrum disorders in European populations. Holt R , et al. (2010) Yes -
18 Negative Association No significant association between RELN polymorphism and autism in case-control and family-based association study in Chinese Han population. He Y , et al. (2010) Yes -
19 Support Patterns and rates of exonic de novo mutations in autism spectrum disorders. Neale BM , et al. (2012) Yes -
20 Support De novo gene disruptions in children on the autistic spectrum. Iossifov I , et al. (2012) Yes -
21 Recent recommendation Reelin, an extracellular matrix protein linked to early onset psychiatric diseases, drives postnatal development of the prefrontal cortex via GluN2... Iafrati J , et al. (2013) No -
22 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
23 Positive association Association between the g.296596G > A genetic variant of RELN gene and susceptibility to autism in a Chinese Han population. Fu X , et al. (2014) Yes -
24 Support Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders. Cukier HN , et al. (2014) Yes -
25 Recent Recommendation Increased binding of MeCP2 to the GAD1 and RELN promoters may be mediated by an enrichment of 5-hmC in autism spectrum disorder (ASD) cerebellum. Zhubi A , et al. (2014) No -
26 Positive association Reelin gene variants and risk of autism spectrum disorders: an integrated meta-analysis. Wang Z , et al. (2014) Yes -
27 Recent recommendation Reelin signaling specifies the molecular identity of the pyramidal neuron distal dendritic compartment. Kupferman JV , et al. (2014) No -
28 Recent recommendation Synaptic, transcriptional and chromatin genes disrupted in autism. De Rubeis S , et al. (2014) Yes -
29 Support Whole-genome sequencing of quartet families with autism spectrum disorder. Yuen RK , et al. (2015) Yes -
30 Recent recommendation LRP8-Reelin-Regulated Neuronal Enhancer Signature Underlying Learning and Memory Formation. Telese F , et al. (2015) No -
31 Support Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities. Zhang Y , et al. (2015) No -
32 Support Comprehensive molecular testing in patients with high functioning autism spectrum disorder. Alvarez-Mora MI , et al. (2016) Yes -
33 Recent recommendation Differential methylation at the RELN gene promoter in temporal cortex from autistic and typically developing post-puberal subjects. Lintas C , et al. (2016) No -
34 Support De novo genic mutations among a Chinese autism spectrum disorder cohort. Wang T , et al. (2016) Yes -
35 Support Clinical exome sequencing: results from 2819 samples reflecting 1000 families. Trujillano D , et al. (2016) No DD, ID, epilepsy/seizures
36 Recent recommendation Reelin-Haploinsufficiency Disrupts the Developmental Trajectory of the E/I Balance in the Prefrontal Cortex. Bouamrane L , et al. (2017) No -
37 Recent recommendation The chromatin remodeling factor CHD7 controls cerebellar development by regulating reelin expression. Whittaker DE , et al. (2017) No -
38 Support Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. Stessman HA , et al. (2017) Yes -
39 Recent recommendation The de novo autism spectrum disorder RELN R2290C mutation reduces Reelin secretion and increases protein disulfide isomerase expression. Lammert DB , et al. (2017) No -
40 Highly Cited A protein related to extracellular matrix proteins deleted in the mouse mutant reeler. D'Arcangelo G , et al. (1995) No -
41 Highly Cited Role of reelin in the control of brain development. Curran T and D'Arcangelo G (1998) No -
Rare Variants   (85)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
c.1108G>C p.Gly370Arg missense_variant Familial Maternal Multiplex 14515139 Bonora E , et al. (2003)
c.1013T>G p.Val338Gly missense_variant - - - 14515139 Bonora E , et al. (2003)
c.1888A>C p.Ser630Arg missense_variant - - - 14515139 Bonora E , et al. (2003)
c.2989C>G p.Leu997Val missense_variant - - - 14515139 Bonora E , et al. (2003)
c.3477C>A p.Asn1159Lys missense_variant Familial Maternal Multiplex 14515139 Bonora E , et al. (2003)
c.3477C>A p.Asn1159Lys missense_variant Familial Paternal Simplex 14515139 Bonora E , et al. (2003)
c.3839G>A p.Gly1280Glu missense_variant - - - 14515139 Bonora E , et al. (2003)
c.5156C>T p.Ser1719Leu missense_variant Familial Maternal Multiplex 14515139 Bonora E , et al. (2003)
c.5156C>T p.Ser1719Leu missense_variant Familial Paternal Multiplex 14515139 Bonora E , et al. (2003)
c.5399C>T p.Arg1742Trp missense_variant - - - 14515139 Bonora E , et al. (2003)
c.5225G>A p.Arg1742Gln missense_variant Familial Paternal Simplex 14515139 Bonora E , et al. (2003)
c.5284G>A p.Val1762Ile missense_variant Familial Maternal Multiplex 14515139 Bonora E , et al. (2003)
c.5284G>A p.Val1762Ile missense_variant Familial Paternal Simplex 14515139 Bonora E , et al. (2003)
c.7044G>A p.Arg2290His missense_variant Familial Paternal Multiplex 14515139 Bonora E , et al. (2003)
c.7438G>A p.Gly2480Ser missense_variant - - - 14515139 Bonora E , et al. (2003)
c.8327A>G p.Thr2718Ala missense_variant Familial Paternal Multiplex 14515139 Bonora E , et al. (2003)
c.2989C>G p.Val997Leu missense_variant - - - 16311013 Serajee FJ , et al. (2005)
c.9606-57C>T - intron_variant - - - 16311013 Serajee FJ , et al. (2005)
C to T N/A intron_variant - - - 17955477 Li H , et al. (2007)
N/A N/A intron_variant - - - 20442744 Holt R , et al. (2010)
c.1249C>T p.Gln417Ter stop_gained De novo - Simplex 22495311 Neale BM , et al. (2012)
c.6868C>T p.Arg2290Cys missense_variant De novo - Simplex 22542183 Iossifov I , et al. (2012)
c.8915A>C p.Lys2972Thr missense_variant Unknown - Unknown 24066114 Koshimizu E , et al. (2013)
c.3839G>A p.Gly1280Glu missense_variant Familial - Extended multiplex (at least one pair of ASD affec 24410847 Cukier HN , et al. (2014)
c.7565T>C p.Phe2522Ser missense_variant De novo - Simplex 25363760 De Rubeis S , et al. (2014)
del(A) - frameshift_variant Familial Maternal Simplex 25363760 De Rubeis S , et al. (2014)
c.763C>T p.Arg255Trp missense_variant Familial Paternal (n=1), maternal (n=1) Simplex 25363760 De Rubeis S , et al. (2014)
c.6874C>T p.Arg2292Cys missense_variant Familial Maternal Simplex 25363760 De Rubeis S , et al. (2014)
c.5711C>T p.Thr1904Met missense_variant Familial Paternal Simplex 25363760 De Rubeis S , et al. (2014)
c.5179C>T p.Arg1727Trp missense_variant Familial Maternal Multiplex 25363760 De Rubeis S , et al. (2014)
c.4739C>T p.Pro1580Leu missense_variant Familial Maternal Simplex 25363760 De Rubeis S , et al. (2014)
c.10136C>G p.Pro3379Arg missense_variant Familial Maternal Simplex 25363760 De Rubeis S , et al. (2014)
c.10120A>G p.Ile3374Val missense_variant Familial Maternal Simplex 25363760 De Rubeis S , et al. (2014)
c.6734C>G p.Pro2245Arg missense_variant Familial Paternal Simplex 25363760 De Rubeis S , et al. (2014)
c.6169C>G p.Leu2057Val missense_variant Familial Paternal Simplex 25363760 De Rubeis S , et al. (2014)
c.2464A>G p.Arg822Gly missense_variant Familial Paternal Simplex 25363760 De Rubeis S , et al. (2014)
c.6726G>C p.Arg2242Ser missense_variant Familial Maternal Simplex 25363760 De Rubeis S , et al. (2014)
c.1566G>C p.Leu522Phe missense_variant Familial Paternal Simplex 25363760 De Rubeis S , et al. (2014)
c.10316G>A p.Arg3439Gln missense_variant Familial Maternal Simplex 25363760 De Rubeis S , et al. (2014)
c.10276G>A p.Val3426Ile missense_variant Familial Maternal Simplex 25363760 De Rubeis S , et al. (2014)
c.7605C>T p.Asn2535Lys missense_variant Familial Maternal Simplex 25363760 De Rubeis S , et al. (2014)
c.7114G>A p.Val2372Met missense_variant Familial Maternal Simplex 25363760 De Rubeis S , et al. (2014)
c.6925G>A p.Asp2309Asn missense_variant Familial Maternal Simplex 25363760 De Rubeis S , et al. (2014)
c.6925G>A p.Asp2309Asn missense_variant Familial Maternal Multiplex 25363760 De Rubeis S , et al. (2014)
c.5225G>A p.Arg1742Gln missense_variant Familial Paternal Simplex 25363760 De Rubeis S , et al. (2014)
c.4228G>A p.Glu1410Lys missense_variant Familial Paternal Simplex 25363760 De Rubeis S , et al. (2014)
c.1231C>A p.Leu411Ile missense_variant Familial Maternal Simplex 25363760 De Rubeis S , et al. (2014)
c.1231C>A p.Leu411Ile missense_variant Familial Paternal Multiplex 25363760 De Rubeis S , et al. (2014)
c.7399C>T p.Gln2467Ter stop_gained Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.10276G>A p.Val3426Ile missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.10120A>G p.Ile3374Val missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.761G>T p.Gly254Val missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.467G>A p.Arg156His missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.6647G>A p.Arg2216Gln missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.6458G>A p.Gly2153Asp missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.5711C>T p.Thr1904Met missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.4972G>A p.Val1658Met missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.4379C>A p.Pro1460His missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.3712A>C p.Asn1238His missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.3565G>A p.Ala1189Thr missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.2932A>G p.Thr978Ala missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.1235C>T p.Ser412Phe missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.8944G>A p.Asp2982Asn missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.8499G>T p.Arg2833Ser missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.6520G>A p.Glu2174Lys missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.6205T>C p.Cys2069Arg missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.2351C>T p.Thr784Met missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.1336G>C p.Glu446Gln missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.7634C>T p.Ala2545Val missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.7184T>C p.Ile2395Thr missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.7114G>A p.Val2372Met missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.6925G>A p.Asp2309Asn missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.5954C>A p.Ser1985Tyr missense_variant De novo - Multiplex 25621899 Yuen RK , et al. (2015)
c.[10276G>A];[2252A>C] p.[Val3426Ile];[Lys751Thr] missense_variant;missense_variant Familial Both parents Simplex 26544041 Zhang Y , et al. (2015)
- p.Tyr1183Cys missense_variant Familial Maternal - 26845707 Alvarez-Mora MI , et al. (2016)
c.1913C>T p.Pro638Leu missense_variant Familial Maternal - 27824329 Wang T , et al. (2016)
c.9979G>T p.Ala3327Ser missense_variant Familial Maternal - 27824329 Wang T , et al. (2016)
c.1913C>T p.Pro638Leu missense_variant Familial Paternal - 27824329 Wang T , et al. (2016)
c.5180G>A p.Arg1727Gln missense_variant Familial Paternal - 27824329 Wang T , et al. (2016)
c.425G>A p.Ser142Asn missense_variant Familial Paternal - 27824329 Wang T , et al. (2016)
c.6311G>A p.Arg2104His missense_variant Unknown Not maternal - 27824329 Wang T , et al. (2016)
c.[9841del];[9841del] p.[Ala3281GlnfsTer11];[Ala3281GlnfsTer11] frameshift_variant;frameshift_variant Familial Both parents Simplex 27848944 Trujillano D , et al. (2016)
c.7966G>A p.Asp2656Asn missense_variant De novo - - 28191889 Stessman HA , et al. (2017)
c.7399C>T p.Gln2467Ter stop_gained De novo - - 28191889 Stessman HA , et al. (2017)
c.4726C>T p.Arg1576Ter stop_gained De novo - - 28191889 Stessman HA , et al. (2017)
Common Variants   (7)
Status Allele Change Residue Change Variant Type Inheritance Pattern Paternal Transmission Family Type PubMed ID Author, Year
c.-24_-22GGC(4_10) - trinucleotide_repeat_microsatellite_feature, 5_prime_UTR_variant - - - 11317216 Persico AM , et al. (2001)
N/A N/A trinucleotide_repeat_microsatellite_feature, 5_prime_UTR_variant - - - 15558079 Skaar DA , et al. (2004)
c.2989C>G p.Val997Leu missense_variant - - - 16311013 Serajee FJ , et al. (2005)
c.9606-57T>C C/T intron_variant - - - 16311013 Serajee FJ , et al. (2005)
N/A N/A trinucleotide_repeat_microsatellite_feature, 5_prime_UTR_variant - - - 20436377 Kelemenova S , et al. (2010)
c.1075G>A p.Val359Ile missense_variant - - - 24385848 Fu X , et al. (2014)
c.2989C>G p.Val997Leu missense_variant - - - 24453138 Wang Z , et al. (2014)
SFARI Gene score
1

High Confidence

Several studies have found a genetic association between the RELN gene and autism. Positive associations have been found in the Italian and US populations (Persico et al., 2001), the Chinese Han population and Caucasian AGRE families. Several studies have also revealed lack of association between RELN and autism in a number of samples, including IMGSAC, CPEA, German and Chinese Han populations. Variable expression data also exists. A de novo LoF variant in the RELN gene was identified in an ASD proband from 2,270 trios screened by the Autism Sequencing Consortium (PMID 25363760), while two de novo likely damaging missense variants have been observed in ASD probands from the Simons Simplex Collection and the Autism Sequencing Consortium (PMID 22542183, 25363760). Analysis of rare coding variation in 3,871 ASD cases and 9,937 ancestry-matched or paternal controls from the Autism Sequencing Consortium (ASC) identified RELN as a gene meeting high statistical significance with a 0.01< FDR ?0.05, meaning that this gene had a ?95% chance of being a true autism gene (PMID 25363760). Two additional de novo LoF variants and a likely damaging missense variant in RELN were identified in probands from the Autism Genetic Resource Exchange (AGRE) in Stessman et al., 2017. Lammert et al., 2017 demonstrated that several ASD-associated missense variants in the RELN gene, including a de novo missense variant identified in a Simons Simplex Collection proband, resulted in reduced RELN protein secretion from transfected cells.

1

High Confidence

See all Category 1 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.

04-01-2017
1

Initial score established: 1

Description

Several studies have found a genetic association between the RELN gene and autism. Positive associations have been found in the Italian and US populations (Persico et al., 2001), the Chinese Han population and Caucasian AGRE families. Several studies have also revealed lack of association between RELN and autism in a number of samples, including IMGSAC, CPEA, German and Chinese Han populations. Variable expression data also exists. A de novo LoF variant in the RELN gene was identified in an ASD proband from 2,270 trios screened by the Autism Sequencing Consortium (PMID 25363760), while two de novo likely damaging missense variants have been observed in ASD probands from the Simons Simplex Collection and the Autism Sequencing Consortium (PMID 22542183, 25363760). Analysis of rare coding variation in 3,871 ASD cases and 9,937 ancestry-matched or paternal controls from the Autism Sequencing Consortium (ASC) identified RELN as a gene meeting high statistical significance with a 0.01< FDR ?0.05, meaning that this gene had a ?95% chance of being a true autism gene (PMID 25363760). Two additional de novo LoF variants and a likely damaging missense variant in RELN were identified in probands from the Autism Genetic Resource Exchange (AGRE) in Stessman et al., 2017. Lammert et al., 2017 demonstrated that several ASD-associated missense variants in the RELN gene, including a de novo missense variant identified in a Simons Simplex Collection proband, resulted in reduced RELN protein secretion from transfected cells.

Reports Added
[Reelin-Haploinsufficiency Disrupts the Developmental Trajectory of the E/I Balance in the Prefrontal Cortex.2017] [Polymorphisms of candidate genes in Slovak autistic patients.2010] [Reelin gene variants and risk of autism spectrum disorders: an integrated meta-analysis.2014] [Linkage and candidate gene studies of autism spectrum disorders in European populations.2010] [Increased binding of MeCP2 to the GAD1 and RELN promoters may be mediated by an enrichment of 5-hmC in autism spectrum disorder (ASD) cerebellum.2014] [Association of Reelin gene polymorphisms with autism.2005] [Comprehensive molecular testing in patients with high functioning autism spectrum disorder.2016] [LRP8-Reelin-Regulated Neuronal Enhancer Signature Underlying Learning and Memory Formation.2015] [Layer acquisition by cortical GABAergic interneurons is independent of Reelin signaling.2006] [Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.2017] [Neocortical RELN promoter methylation increases significantly after puberty.2009] [Structure of a signaling-competent reelin fragment revealed by X-ray crystallography and electron tomography.2006] [Reelin, an extracellular matrix protein linked to early onset psychiatric diseases, drives postnatal development of the prefrontal cortex via GluN2...2013] [The chromatin remodeling factor CHD7 controls cerebellar development by regulating reelin expression.2017] [No significant association between RELN polymorphism and autism in case-control and family-based association study in Chinese Han population.2010] [De novo gene disruptions in children on the autistic spectrum.2012] [Differential methylation at the RELN gene promoter in temporal cortex from autistic and typically developing post-puberal subjects.2016] [Reelin gene alleles and haplotypes as a factor predisposing to autistic disorder.2001] [Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities.2015] [Clinical exome sequencing: results from 2819 samples reflecting 1000 families.2016] [Expression of reelin, its receptors and its intracellular signaling protein, Disabled1 in the canary brain: relationships with the song control sys...2008] [Performance comparison of bench-top next generation sequencers using microdroplet PCR-based enrichment for targeted sequencing in patients with aut...2013] [The de novo autism spectrum disorder RELN R2290C mutation reduces Reelin secretion and increases protein disulfide isomerase expression.2017] [The association analysis of RELN and GRM8 genes with autistic spectrum disorder in Chinese Han population.2007] [Reelin signaling specifies the molecular identity of the pyramidal neuron distal dendritic compartment.2014] [Absence of association between a polymorphic GGC repeat in the 5' untranslated region of the reelin gene and autism.2002] [NMDA receptor surface trafficking and synaptic subunit composition are developmentally regulated by the extracellular matrix protein Reelin.2007] [Role of reelin in the control of brain development.1998] [Heterozygous reeler mice exhibit alterations in sensorimotor gating but not presynaptic proteins.2008] [Whole-genome sequencing of quartet families with autism spectrum disorder.2015] [Synaptic, transcriptional and chromatin genes disrupted in autism.2014] [Analysis of reelin as a candidate gene for autism.2003] [Association between the g.296596G > A genetic variant of RELN gene and susceptibility to autism in a Chinese Han population.2014] [Analysis of the RELN gene as a genetic risk factor for autism.2004] [Alleles of a reelin CGG repeat do not convey liability to autism in a sample from the CPEA network.2004] [Lack of evidence for an association between WNT2 and RELN polymorphisms and autism.2004] [A protein related to extracellular matrix proteins deleted in the mouse mutant reeler.1995] [Patterns and rates of exonic de novo mutations in autism spectrum disorders.2012] [Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders.2014] [Proteins of the CNR family are multiple receptors for Reelin.1999] [De novo genic mutations among a Chinese autism spectrum disorder cohort.2016]
CNVs associated with RELN(1 CNVs)
7q22.1 17 Deletion-Duplication 30  /  136
Animal Models associated with RELN(9 Models)
RELN_1_SM_HM Genetic
RELN_2_SM_HM Genetic
RELN_3_SM_HT Genetic
RELN_3_SM_HT_Estradiol-M RESCUE-pharmaceutical
RELN_3_SM_HT_Flutamide Pharmaceutical intervention
RELN_3_SM_HT_Tamoxifen-F Pharmaceutical intervention
RELN_3_SM_HT_Tamoxifen-M Pharmaceutical intervention
RELN_4_KO_HT Genetic
RELN_4_KO_HT_CPO Genetic/Induced
Interaction Table
Interactor Symbol Interactor Name Interactor Organism Interactor Type Entrez ID Uniprot ID
EPHB3 EPH receptor B3 Human Protein Binding 2049 P54753
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