GABRB3 Back

gamma-aminobutyric acid (GABA) A receptor, beta 3

External References:      Wikipedia GeneCards HUGO COSMIC Google Scholar

NCBI Description of GABRB3
This gene encodes a member of the ligand-gated ionic channel family. The encoded protein is one of at least 13 distinct subunits of a multisubunit chloride channel that serves as the receptor for gamma-aminobutyric acid, the major inhibitory transmitter of the nervous system. This gene is located on the long arm of chromosome 15 in a cluster with two genes encoding related subunits of the family. Mutations in this gene may be associated with the pathogenesis of Angelman syndrome, Prader-Willi syndrome, and autism. Alternatively spliced transcript variants encoding distinct isoforms have been described.

Community Annotation of GABRB3 Add / Edit GABRB3: Annotations

No community annotations yet for GABRB3.
Sort mutations by: Tumor type  Mutation type  Position  
Straightedge cursor Expand

Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

GABRB3 is highly significantly mutated in
(none)
GABRB3 is significantly mutated in
(none)
GABRB3 is near significance in
(none)

Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for GABRB3