CTNNA3
Homo sapiens
Gene Name: catenin (cadherin-associated protein), alpha 3
Aliases: RP11-433J16.1, MGC26194, MGC75041, VR22
Chromosome No: 10
Chromosome Band: 10q21.3
Genetic Category: Genetic Association--Rare Single Gene variant-Multigenic CNV
Aliases: RP11-433J16.1, MGC26194, MGC75041, VR22
Chromosome No: 10
Chromosome Band: 10q21.3
Genetic Category: Genetic Association--Rare Single Gene variant-Multigenic CNV
Summary Statistics:
ASD Reports: 19
Recent Reports: 3
Annotated variants: 62
Associated CNVs: 5
Evidence score: 3
ASD Reports: 19
Recent Reports: 3
Annotated variants: 62
Associated CNVs: 5
Evidence score: 3
| Associated Disorders: |
|
Relevance to Autism
Genetic association has been found between the CTNNA3 gene and autism in two large cohorts (AGRE and ACC) of European ancestry and replicated in two other cohorts (CAP and CART) (Wang et al., 2009). In addition, rare deletions in the CTNNA3 gene have been identified in individuals with ASD (ORoak et al., 2012). As well, genetic association has been found between the CTNNA3 gene and Alzheimer's disease in females (Miyashita et al., 2007).
Molecular Function
cell adhesion
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Common genetic variants on 5p14.1 associate with autism spectrum disorders.
ASD
Positive Association
A genome-wide linkage and association scan reveals novel loci for autism.
ASD
Support
Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder.
ASD
Support
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Epilepsy
ADHD
Support
T-catenin in restricted brain cell types and its potential connection to autism.
Support
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene ...
DD, ID, ASD
MCA
Support
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
ASD
Support
A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders
ASD, DD
Support
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
ASD
Support
Phenotype-to-genotype approach reveals head-circumference-associated genes in an autism spectrum disorder cohort.
ASD
Macrocephaly
Support
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
Recent Recommendation
Genetic association of CTNNA3 with late-onset Alzheimer's disease in females.
AD
Recent Recommendation
A CTNNA3 compound heterozygous deletion implicates a role for T-catenin in susceptibility to autism spectrum disorder.
ASD
ID
Recent Recommendation
Alpha-T-catenin (CTNNA3) gene was identified as a risk variant for toluene diisocyanate-induced asthma by genome-wide association analysis.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN053R047
frameshift_variant
c.1237_1238del
p.Glu413IlefsTer7
Familial
Paternal
Simplex
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN053C001
intron_variant
rs7909676
c.1282-53255G>A;c.1282-53255G>T;c.1318-53255G>A;c.1318-53255G>T;c.499-53255G>A;c.499-53255G>T
C/A
Japanese
Discovery
GEN053C002
intron_variant
rs2394287
c.1282-54120T>C;c.1318-54120T>C;c.499-54120T>C
A/G
Japanese
Discovery
GEN053C003
intron_variant
rs4459178
c.1282-62755A>G;c.1318-62755A>G;c.499-62755A>G
T/C
Japanese
Discovery
GEN053C004
intron_variant
rs10997307
c.1282-67890A>G;c.1318-67890A>G;c.499-67890A>G
T/C
Japanese
Discovery
GEN053C005
intron_variant
rs12258078
c.1281+70294A>C;c.1317+70294A>C;c.498+70294A>C
T/G
Japanese
Discovery
GEN053C006
intron_variant
rs10822890
c.1281+68209C>T;c.1317+68209C>T;c.498+68209C>T
A/G
Japanese
Discovery
GEN053C007
intron_variant
rs713250
c.1281+52623A>G;c.1317+52623A>G;c.498+52623A>G
C/T
Japanese
Discovery
GEN053C008
intron_variant
rs9651325
c.580-225C>T;c.616-225C>T;c.-204-225C>T
US and European
Discovery
GEN053C009
intron_variant
rs7923367
c.579+108697C>T;c.615+108697C>T
AGRE and other sources
Discovery
