GABRB3 |
- 0
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- GABRB3 (HGNC:4083) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- gamma-aminobutyric acid type A receptor subunit beta3
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- No aliases found
- %HI
- 8.38(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.95(Read more about gnomAD pLI score)
- LOEUF
- 0.34(Read more about gnomAD LOEUF score)
- Cytoband
- 15q12
- Genomic Coordinates
-
GRCh37/hg19: chr15:26788699-27018910 NCBI Ensembl UCSC GRCh38/hg38: chr15:26543552-26773763 NCBI Ensembl UCSC - MANE Select Transcript
- NM_000814.6 ENST00000311550.10 (Read more about MANE Select)
- Function
- Ligand-gated chloride channel which is a component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the brain (PubMed:18514161, PubMed:22303015, PubMed:26950270, PubMed:22243422, PubMed:24909990). Plays an important role in the formation of functional inhibitory GABAergic synapses in addition to mediating synaptic inhibition as a GABA-gated ion channel (PubMed:25489750). The gamma2 subunit is necessary but not sufficient for a rapid formation of active synaptic... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-13621
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency
(0)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
04/25/2012
Haploinsufficiency (HI) Score Details
HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency
(Disclaimer)
HI Evidence Comments:
Missense mutations in GABRB3 have been associated with susceptibility to childhood absence epilepsy-5 (612269).
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
PMID:18925931 Cai et al. (2008) identified a de novo 1 Mb duplication including ATP10A and GABRB3 using MLPA probes in a proband with autism. This gain was not detected in an affected sibling.
Genomic View
Select assembly:
(NC_000015.9)
(NC_000015.10)