CTNNA2
Homo sapiens
Gene Name: catenin alpha 2
Aliases: CAP-R, CAPR, CT114, CTNR
Chromosome No: 2
Chromosome Band: 2p12
Genetic Category: Syndromic-Rare single gene variant-Rare single gene variant/Functional
Aliases: CAP-R, CAPR, CT114, CTNR
Chromosome No: 2
Chromosome Band: 2p12
Genetic Category: Syndromic-Rare single gene variant-Rare single gene variant/Functional
Summary Statistics:
ASD Reports: 5
Recent Reports: 1
Annotated variants: 10
Associated CNVs: 1
Evidence score: 2
ASD Reports: 5
Recent Reports: 1
Annotated variants: 10
Associated CNVs: 1
Evidence score: 2
| Associated Disorders: |
|
Relevance to Autism
Biallelic variants in the CTNNA2 gene were identified in seven individuals from three consanguineous families presenting with a syndrome characterized by neuronal migration defects and pachygyria, global developmental delay (including delayed or absent social development), intellectual disability, seizures, and autistic features (Schaffer et al., 2018).
Molecular Function
May function as a linker between cadherin adhesion receptors and the cytoskeleton to regulate cell-cell adhesion and differentiation in the nervous system. Regulates morphological plasticity of synapses and cerebellar and hippocampal lamination during development.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Biallelic loss of human CTNNA2, encoding N-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration.
DD, ID, epilepsy/seizures, autistic features
Pachygyria
Support
Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants
ASD
Recent Recommendation
Non-coding de novo mutations in chromatin interactions are implicated in autism spectrum disorder
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN1023R001a
stop_gained
c.2664C>T
p.Thr888=
Familial
Both parents
Extended multiplex
GEN1023R002a
stop_gained
c.2341C>T
p.Arg781Ter
Familial
Both parents
Multiplex
GEN1023R003a
stop_gained
c.1480C>T
p.Arg494Ter
Familial
Both parents
Simplex
Common
No Common Variants Available
