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GABRA4 gamma-aminobutyric acid type A receptor subunit alpha4 [ Homo sapiens (human) ]

Gene ID: 2557, updated on 22-Aug-2020

Summary

Official Symbol
GABRA4provided by HGNC
Official Full Name
gamma-aminobutyric acid type A receptor subunit alpha4provided by HGNC
Primary source
HGNC:HGNC:4078
See related
Ensembl:ENSG00000109158 MIM:137141
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
Gamma-aminobutyric acid (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. At least 16 distinct subunits of GABA-A receptors have been identified. This gene encodes subunit alpha-4, which is involved in the etiology of autism and eventually increases autism risk through interaction with another subunit, gamma-aminobutyric acid receptor beta-1 (GABRB1). Alternatively spliced transcript variants encoding different isoforms have been found in this gene.[provided by RefSeq, Feb 2011]
Expression
Biased expression in brain (RPKM 6.9) and heart (RPKM 1.7) See more
Orthologs

Genomic context

See GABRA4 in Genome Data Viewer
Location:
4p12
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (46918900..46993581, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (46920917..46996424, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene Rac family small GTPase 1 pseudogene 2 Neighboring gene cytochrome c oxidase subunit 7B2 Neighboring gene gamma-aminobutyric acid type A receptor subunit beta1 Neighboring gene uncharacterized LOC105374442 Neighboring gene uncharacterized LOC107986276

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

Associated conditions

Description Tests
A genome-wide search for type 2 diabetes susceptibility genes in an extended Arab family.
GeneReviews: Not available

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
central nervous system development IEA
Inferred from Electronic Annotation
more info
 
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 
regulation of 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 postsynaptic specialization 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 
synapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
gamma-aminobutyric acid receptor subunit alpha-4
Names
GABA(A) receptor, alpha 4
gamma-aminobutyric acid (GABA) A receptor, alpha 4
gamma-aminobutyric acid A receptor alpha 4
gamma-aminobutyric acid type A receptor alpha4 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_011809.1 RefSeqGene

    Range
    4983..79664
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000809.4NP_000800.2  gamma-aminobutyric acid receptor subunit alpha-4 isoform 1 precursor

    See identical proteins and their annotated locations for NP_000800.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC107383, AK090780, BC037926
    Consensus CDS
    CCDS3473.1
    UniProtKB/Swiss-Prot
    P48169
    UniProtKB/TrEMBL
    X5D7F5
    Related
    ENSP00000264318.3, ENST00000264318.4
    Conserved Domains (1) summary
    cl27321
    Location:13541
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
  2. NM_001204266.2NP_001191195.1  gamma-aminobutyric acid receptor subunit alpha-4 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks a segment in the first splice junction, resulting in an upstream AUG start codon, as compared to variant 1. The resulting isoform (2) has a shorter and different N-terminus, as compared to isoform 1.
    Source sequence(s)
    AC107383, BC035055, BC037926, CD013893
    UniProtKB/Swiss-Prot
    P48169
    Conserved Domains (3) summary
    TIGR00860
    Location:5522
    LIC; Cation transporter family protein
    pfam02931
    Location:30237
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:244519
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
  3. NM_001204267.2NP_001191196.1  gamma-aminobutyric acid receptor subunit alpha-4 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks a segment in the first splice junction, resulting in an upstream AUG start codon, and lacks an in-frame exon in the middle region, as compared to variant 1. The resulting isoform (3) has a shorter and different N-terminus and lacks an internal segment, as compared to isoform 1.
    Source sequence(s)
    AC107383, BC035055, BC037926, CD013892
    UniProtKB/Swiss-Prot
    P48169
    Conserved Domains (3) summary
    TIGR00860
    Location:5471
    LIC; Cation transporter family protein
    pfam02931
    Location:30228
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:222468
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    46918900..46993581 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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