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

Gene ID: 2563, updated on 12-Jun-2022

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
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
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (2019345..2030758)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (1454897..1466310)
105.20220307 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 Sharpr-MPRA regulatory region 11961 Neighboring gene uncharacterized LOC105378589 Neighboring gene uncharacterized LOC105378590 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

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 excitatory extracellular ligand-gated ion 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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 anchoring junction 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
 
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)

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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 Annotation Release 110 details...Open this link in a new tab

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

    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)