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    GABRD gamma-aminobutyric acid type A receptor subunit delta [ Homo sapiens (human) ]

    Gene ID: 2563, updated on 12-Jun-2021

    Summary

    Official Symbol
    GABRDprovided by HGNC
    Official Full Name
    gamma-aminobutyric acid type A receptor subunit deltaprovided by HGNC
    Primary source
    HGNC:HGNC:4084
    See related
    Ensembl:ENSG00000187730 MIM:137163
    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
    Also known as
    EJM7; EIG10; GEFSP5
    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. The GABA-A receptor is generally pentameric and there are five types of subunits: alpha, beta, gamma, delta, and rho. This gene encodes the delta subunit. Mutations in this gene have been associated with susceptibility to generalized epilepsy with febrile seizures, type 5. Alternatively spliced transcript variants have been described for this gene, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in brain (RPKM 6.5), testis (RPKM 1.0) and 1 other tissue See more
    Orthologs
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    Genomic context

    See GABRD in Genome Data Viewer
    Location:
    1p36.33
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (2019345..2030758)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (1950784..1962197)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene cilia and flagella associated protein 74 Neighboring gene uncharacterized LOC107984872 Neighboring gene uncharacterized LOC105378589 Neighboring gene uncharacterized LOC105378590 Neighboring gene uncharacterized LOC105378591

    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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC45284

    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 
    contributes_to chloride channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables neurotransmitter receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in chemical synaptic transmission IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in chloride transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in nervous system process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of membrane potential IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of postsynaptic membrane potential IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of GABA-A receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in GABA-ergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in axon IEA
    Inferred from Electronic Annotation
    more info
     
    part_of chloride channel complex IEA
    Inferred from Electronic Annotation
    more info
     
    located_in dendrite IEA
    Inferred from Electronic Annotation
    more info
     
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in integral component of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in integral component of postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    gamma-aminobutyric acid receptor subunit delta
    Names
    GABA(A) receptor subunit delta
    GABA(A) receptor, delta
    GABA-A receptor, delta polypeptide
    gamma-aminobutyric acid (GABA) A receptor, delta
    gamma-aminobutyric acid type A receptor delta 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_008168.1 RefSeqGene

      Range
      5017..16430
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000815.5NP_000806.2  gamma-aminobutyric acid receptor subunit delta precursor

      See identical proteins and their annotated locations for NP_000806.2

      Status: REVIEWED

      Source sequence(s)
      AK290861, AL391845, AW291520, BC033801, DA060315
      Consensus CDS
      CCDS36.1
      UniProtKB/Swiss-Prot
      O14764
      UniProtKB/TrEMBL
      A8K496
      Related
      ENSP00000367848.4, ENST00000378585.7
      Conserved Domains (2) summary
      cd19001
      Location:63246
      LGIC_ECD_GABAAR_delta; extracellular domain of gamma-aminobutyric acid receptor subunit delta
      cd19055
      Location:249343
      LGIC_TM_GABAAR_delta; transmembrane domain of delta subunits of type-A gamma-aminobutyric acid receptor (GABAAR)

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      2019345..2030758
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011541194.3XP_011539496.1  gamma-aminobutyric acid receptor subunit delta isoform X2

      See identical proteins and their annotated locations for XP_011539496.1

      Conserved Domains (2) summary
      pfam02931
      Location:57259
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:268381
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
    2. XM_017000936.1XP_016856425.1  gamma-aminobutyric acid receptor subunit delta isoform X1

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