GABRA4
Homo sapiens
Gene Name: gamma-aminobutyric acid (GABA) A receptor, alpha 4
Aliases:
Chromosome No: 4
Chromosome Band: 4p12
Genetic Category: Genetic Association--Rare single gene variant-Functional
Aliases:
Chromosome No: 4
Chromosome Band: 4p12
Genetic Category: Genetic Association--Rare single gene variant-Functional
Summary Statistics:
ASD Reports: 9
Recent Reports: 1
Annotated variants: 11
Associated CNVs: 4
Evidence score: 2
ASD Reports: 9
Recent Reports: 1
Annotated variants: 11
Associated CNVs: 4
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Studies have found genetic association between the GABRA4 gene and autism in the Caucasian and African-American populations.
Molecular Function
The encoded protein is a subunit of GABA-A receptor. Neurotransmission is predominantly mediated by a gated chloride channel activity intrinsic to the receptor.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism.
ASD
Positive Association
Investigation of autism and GABA receptor subunit genes in multiple ethnic groups.
ASD
Support
A de novo missense variant in GABRA4 alters receptor function in an epileptic and neurodevelopmental phenotype
DD, epilepsy/seizures
Support
Transcriptomics of Gabra4 knockout mice reveals common NMDAR pathways underlying autism, memory, and epilepsy.
Support
Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations.
ASD
Support
Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy.
Epilepsy
Highly Cited
GABA(A) receptor alpha4 subunit suppression prevents withdrawal properties of an endogenous steroid.
Recent Recommendation
Egr3 stimulation of GABRA4 promoter activity as a mechanism for seizure-induced up-regulation of GABA(A) receptor alpha4 subunit expression.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN099C001
intron_variant
rs2280073
c.875-327C>G;c.818-327C>G;c.665-327C>G;c.845-327C>G
N/A
Caucasian, African-American
Discovery
GEN099C002
intron_variant
rs1912960
c.1134+13106C>G;c.1077+13106C>G;c.924+13106C>G;c.1104+13106C>G
Caucasian, African-American
Discovery
GEN099C003
intron_variant
rs17599165
c.1135-9443A>T;c.1078-9443A>T;c.925-9443A>T;c.1105-9443A>T
Caucasian, African-American
Discovery
GEN099C004
intron_variant
rs17599416
c.722-186T>C;c.665-186T>C;c.664+2811T>C;c.692-186T>C
Caucasian, African-American
Discovery
GEN099C005
3_prime_UTR_variant
rs7660336
c.*574C>G
N/A
Caucasian, African-American
Discovery
GEN099C006
intron_variant
rs16859788
c.874+1091T>G;c.817+1091T>G;c.664+4240T>G;c.844+1091T>G
Caucasian, African-American
Discovery
GEN099C007
intron_variant
rs1912960
c.1134+13106C>G;c.1077+13106C>G;c.924+13106C>G;c.1104+13106C>G
Caucasian
Replication
