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

    Gene ID: 2557, updated on 28-Oct-2024

    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; AllianceGenome:HGNC:4078
    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
    NEW
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    Genomic context

    See GABRA4 in Genome Data Viewer
    Location:
    4p12
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (46918900..46993581, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (46886225..46960936, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (46920917..46995598, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:46725989-46726490 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:46726491-46726990 Neighboring gene Rac family small GTPase 1 pseudogene 2 Neighboring gene cytochrome c oxidase subunit 7B2 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:46889421-46889608 Neighboring gene Sharpr-MPRA regulatory region 10756 Neighboring gene Sharpr-MPRA regulatory region 8016 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21529 Neighboring gene gamma-aminobutyric acid type A receptor subunit beta1 Neighboring gene small nucleolar RNA U13 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:47379937-47380444 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15398 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:47416165-47416745 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:47432124-47432333 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15399 Neighboring gene COMM domain containing 8

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to GABA-A receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables GABA-gated chloride ion channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    contributes_to benzodiazepine receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    contributes_to chloride channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in chloride transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in chloride transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in gamma-aminobutyric acid signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in gamma-aminobutyric acid signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in gamma-aminobutyric acid signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in inhibitory synapse assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of postsynaptic membrane potential IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in synaptic transmission, GABAergic IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in synaptic transmission, GABAergic NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of GABA-A receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of GABA-A receptor complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    part_of GABA-A receptor complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in GABA-ergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    part_of chloride channel complex IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in dendrite membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in postsynapse IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in postsynaptic specialization membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of transmembrane transporter complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    gamma-aminobutyric acid receptor subunit alpha-4
    Names
    GABA(A) receptor, alpha 4
    GABAAR subunit 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)

    NEW Try the new Transcript table

    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, Q8IYR7
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      46886225..46960936 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)