U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

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

    Gene ID: 2563, updated on 3-Dec-2024

    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; AllianceGenome:HGNC:4084
    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; GABAARdelta
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See GABRD in Genome Data Viewer
    Location:
    1p36.33
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (2019345..2030758)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (1454897..1466310)
    RS_2024_09 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 H3K4me1 hESC enhancer GRCh37_chr1:1889089-1889729 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1889730-1890369 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1891315-1892020 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1902122-1902903 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1904270-1904833 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:1905091-1905258 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1910063-1911020 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1911021-1911978 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1917517-1918208 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1918209-1918899 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:1919795-1920994 Neighboring gene Sharpr-MPRA regulatory region 11961 Neighboring gene uncharacterized LOC105378589 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1949800-1950378 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1950379-1950956 Neighboring gene uncharacterized LOC105378590 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1974620-1975249 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 101 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 102 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1977985-1978738 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1978739-1979492 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 103 Neighboring gene PRKCZ divergent transcript Neighboring gene protein kinase C zeta

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC45284

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GABA-A 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 protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential IEA
    Inferred from Electronic Annotation
    more info
     
    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
     
    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 neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     

    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
    GABAAR subunit delta
    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, Q8N4N9
      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: 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_000001.11 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_011541194.4XP_011539496.1  gamma-aminobutyric acid receptor subunit delta isoform X2

      See identical proteins and their annotated locations for XP_011539496.1

      UniProtKB/TrEMBL
      A8K496
      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_017000936.2XP_016856425.1  gamma-aminobutyric acid receptor subunit delta isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      1454897..1466310
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054335808.1XP_054191783.1  gamma-aminobutyric acid receptor subunit delta isoform X2

      UniProtKB/TrEMBL
      A8K496
    2. XM_054335807.1XP_054191782.1  gamma-aminobutyric acid receptor subunit delta isoform X1