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Gene: GABRB3 (gamma-aminobutyric acid type A receptor subunit beta3) Homo sapiens
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Symbol: GABRB3
Name: gamma-aminobutyric acid type A receptor subunit beta3
CRRD ID: 736139
Description: Exhibits GABA-A receptor activity; GABA-gated chloride ion channel activity; and identical protein binding activity. Predicted to contribute to chloride channel activity. Involved in several processes, including cellular response to histamine; gamma-aminobutyric acid signaling pathway; and inhibitory synapse assembly. Localizes to GABA-A receptor complex and integral component of plasma membrane. Implicated in childhood absence epilepsy and early infantile epileptic encephalopathy 43.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ECA5; EIEE43; GABA(A) receptor beta-3 subunit; GABA(A) receptor subunit beta-3; GABA(A) receptor, beta 3; GABA-A receptor beta-3 subunit; GABA-alpha receptor beta-2 subunit; GABAA receptor beta-3 subunit; gamma-aminobutyric acid (GABA) A receptor, beta 3; gamma-aminobutyric acid A receptor beta 3; gamma-aminobutyric acid receptor subunit beta-3; gamma-aminobutyric acid type A receptor beta3 subunit; MGC9051
Orthologs:
Allele / Splice: See ClinVar data
Is Marker For: QTLs:   SCL107_H  
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1526,543,546 - 26,939,539 (-)EnsemblGRCh38hg38GRCh38
GRCh381526,543,552 - 26,773,763 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371526,788,693 - 27,018,935 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361524,339,786 - 24,570,020 (-)NCBINCBI36hg18NCBI36
Build 341524,342,555 - 24,570,020NCBI
Celera154,950,603 - 5,179,865 (-)NCBI
Cytogenetic Map15q12NCBI
HuRef154,917,779 - 5,148,361 (-)NCBIHuRef
CHM1_11526,738,348 - 26,968,576 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
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Disease Annotations
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References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on GABRB3
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 736139
Created: 2004-02-06
Species: Homo sapiens
Last Modified: 2020-09-16
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.