GABRB3

GENE INFORMATION

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Gene name

GABRB3

Synonyms

Description

Gamma-aminobutyric acid (GABA) A receptor, beta 3 (HGNC Symbol)

Entrez gene summary

This gene encodes a member of the ligand-gated ionic channel family. The encoded protein is one the subunits of a multi-subunit chloride channel that serves as the receptor for gamma-aminobutyric acid, a major inhibitory neurotransmitter of the mammalian nervous system. This gene is located on the long arm of chromosome 15 in a cluster with two other genes encoding related subunits of the family. This gene may be associated with the pathogenesis of several disorders including Angelman syndrome, Prader-Willi syndrome, nonsyndromic orofacial clefts, epilepsy and autism. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2013]

Chromosome

15

Cytoband

q12

Chromosome location (bp)

26543546 - 26939539

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000166206 (version 78.38)

Entrez gene

2562

UniProt

P28472 (UniProt - Evidence at protein level)

neXtProt

NX_P28472

Antibodypedia

GABRB3 antibodies
 

PROTEIN VIEW

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GABRB3-001
 
GABRB3-002
 
GABRB3-003
 
GABRB3-004
 
GABRB3-006
 
GABRB3-011
 
GABRB3-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

GABRB3-001 ENSP00000299267
ENST00000299267
P28472
Show all »
Show » Show » 473 54.4 Yes 4
GABRB3-002 ENSP00000308725
ENST00000311550
P28472
Show all »
Show » Show » 473 54.1 Yes 4
GABRB3-003 ENSP00000442408
ENST00000541819
F5H7N0
Show all »
Show » Show » 529 61 No 4
GABRB3-004 ENSP00000439169
ENST00000545868
P28472
Show all »
Show » Show » 388 45 No 4
GABRB3-006 ENSP00000383049
ENST00000400188
P28472
Show all »
Show » Show » 402 46.7 No 4
GABRB3-011 ENSP00000452272
ENST00000555094
G3V5B4
Show all »
Show » Show » 138 16.2 No 0
GABRB3-201 ENSP00000481004
ENST00000622697
P28472
Show all »
Show » Show » 388 45 No 4