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GABRG3 gamma-aminobutyric acid type A receptor subunit gamma3 [ Homo sapiens (human) ]

Gene ID: 2567, updated on 1-Jun-2020

Summary

Official Symbol
GABRG3provided by HGNC
Official Full Name
gamma-aminobutyric acid type A receptor subunit gamma3provided by HGNC
Primary source
HGNC:HGNC:4088
See related
Ensembl:ENSG00000182256 MIM:600233
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. The protein encoded by this gene is a gamma subunit, which contains the benzodiazepine binding site. Two transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Aug 2012]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See GABRG3 in Genome Data Viewer
Location:
15q12
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (26971181..27541984)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (27216429..27778373)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene gamma-aminobutyric acid type A receptor subunit alpha5 Neighboring gene TVP23B pseudogene 1 Neighboring gene uncharacterized LOC107984766 Neighboring gene GABRG3 antisense RNA 1 Neighboring gene dual specificity phosphatase 3 pseudogene Neighboring gene RNA, 5S ribosomal pseudogene 391 Neighboring gene serpin family E member 4, pseudogene Neighboring gene uncharacterized LOC105370741 Neighboring gene Sharpr-MPRA regulatory region 4259 Neighboring gene OCA2 melanosomal transmembrane protein Neighboring gene ribosomal protein L5 pseudogene 32 Neighboring gene HECT and RLD domain containing E3 ubiquitin protein ligase 2 Neighboring gene ribosomal protein L41 pseudogene 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genetic variants near PDGFRA are associated with corneal curvature in Australians.
NHGRI GWA Catalog
Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.
NHGRI GWA Catalog
Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to GABA-A receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GABA-gated chloride ion channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to benzodiazepine receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chloride channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to chloride channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
inhibitory extracellular ligand-gated ion channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neurotransmitter receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chloride transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
gamma-aminobutyric acid signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nervous system process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of membrane potential IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of postsynaptic membrane potential IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to drug IEA
Inferred from Electronic Annotation
more info
 
signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
synaptic transmission, GABAergic IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
GABA-A receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GABA-ergic synapse IEA
Inferred from Electronic Annotation
more info
 
chloride channel complex IEA
Inferred from Electronic Annotation
more info
 
dendrite membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of synaptic membrane IEA
Inferred from Electronic Annotation
more info
 
neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
postsynapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
synapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
gamma-aminobutyric acid receptor subunit gamma-3
Names
GABA(A) receptor subunit gamma-3
GABA(G) receptor, gamma 3
gamma-aminobutyric acid (GABA) A receptor, gamma 3
gamma-aminobutyric acid type A receptor gamma3 subunit

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_032887.2 RefSeqGene

    Range
    5001..575804
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001270873.2NP_001257802.1  gamma-aminobutyric acid receptor subunit gamma-3 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001257802.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks several exons and its transcription extends past a splice site that is used in variant 1, resulting in a novel 3' coding region and 3' UTR compared to variant 1. It encodes isoform 2 which is longer/shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC104002, AC127511, AC145436, BC045709, DN990720
    Consensus CDS
    CCDS59251.1
    UniProtKB/Swiss-Prot
    Q99928
    Related
    ENSP00000452244.1, ENST00000555083.5
    Conserved Domains (1) summary
    pfam02931
    Location:48231
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
  2. NM_033223.5NP_150092.2  gamma-aminobutyric acid receptor subunit gamma-3 isoform 1 precursor

    See identical proteins and their annotated locations for NP_150092.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC104002, AC127511, BC029850, DN990720, S82769
    Consensus CDS
    CCDS45195.1
    UniProtKB/Swiss-Prot
    Q99928
    Related
    ENSP00000479113.1, ENST00000615808.5
    Conserved Domains (3) summary
    TIGR00860
    Location:50464
    LIC; Cation transporter family protein
    pfam02931
    Location:48253
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:260461
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    26971181..27541984
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011521430.3XP_011519732.1  gamma-aminobutyric acid receptor subunit gamma-3 isoform X1

    Conserved Domains (3) summary
    TIGR00860
    Location:50470
    LIC; Cation transporter family protein
    pfam02931
    Location:48253
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:260467
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
  2. XM_017022058.2XP_016877547.1  gamma-aminobutyric acid receptor subunit gamma-3 isoform X2

  3. XM_024449889.1XP_024305657.1  gamma-aminobutyric acid receptor subunit gamma-3 isoform X3

    Related
    ENSP00000331912.7, ENST00000333743.10
    Conserved Domains (1) summary
    cl27321
    Location:4352
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
  4. XM_017022059.2XP_016877548.1  gamma-aminobutyric acid receptor subunit gamma-3 isoform X3

    Conserved Domains (1) summary
    cl27321
    Location:4352
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
  5. XM_011521431.3XP_011519733.1  gamma-aminobutyric acid receptor subunit gamma-3 isoform X4

    Conserved Domains (2) summary
    pfam02931
    Location:1878
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:85292
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
  6. XM_017022060.2XP_016877549.1  gamma-aminobutyric acid receptor subunit gamma-3 isoform X4

    Conserved Domains (2) summary
    pfam02931
    Location:1878
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:85292
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
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