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    Gabrd gamma-aminobutyric acid (GABA) A receptor, subunit delta [ Mus musculus (house mouse) ]

    Gene ID: 14403, updated on 28-Oct-2024

    Summary

    Official Symbol
    Gabrdprovided by MGI
    Official Full Name
    gamma-aminobutyric acid (GABA) A receptor, subunit deltaprovided by MGI
    Primary source
    MGI:MGI:95622
    See related
    Ensembl:ENSMUSG00000029054 AllianceGenome:MGI:95622
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Summary
    Enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential. Predicted to be involved in several processes, including chemical synaptic transmission; chloride transmembrane transport; and gamma-aminobutyric acid signaling pathway. Located in axon; dendrite; and neuronal cell body. Is active in GABA-ergic synapse and postsynaptic membrane. Is expressed in several structures, including brain; metanephros; respiratory system; sensory organ; and ventricular layer. Used to study postpartum depression. Human ortholog(s) of this gene implicated in idiopathic generalized epilepsy 10. Orthologous to human GABRD (gamma-aminobutyric acid type A receptor subunit delta). [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Biased expression in cerebellum adult (RPKM 60.1), cortex adult (RPKM 29.6) and 1 other tissue See more
    Orthologs
    NEW
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    Genomic context

    See Gabrd in Genome Data Viewer
    Location:
    4 E2; 4 86.17 cM
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (155469437..155482528, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (155384979..155398098, complement)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E6296 Neighboring gene Fanconi anemia core complex associated protein 20 Neighboring gene STARR-seq mESC enhancer starr_12256 Neighboring gene protein kinase C, zeta Neighboring gene RIKEN cDNA 5830444B04 gene Neighboring gene cilia and flagella associated protein 74 Neighboring gene STARR-positive B cell enhancer ABC_E4738 Neighboring gene transmembrane protein 52

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    General gene information

    Markers

    Clone Names

    • MGC151209, MGC151213

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    involved_in chemical synaptic transmission IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in chemical synaptic transmission ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in chloride transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in chloride transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chloride transmembrane transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in gamma-aminobutyric acid signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in gamma-aminobutyric acid signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in gamma-aminobutyric acid signaling pathway NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of membrane potential IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of postsynaptic membrane potential IEA
    Inferred from Electronic Annotation
    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 ISO
    Inferred from Sequence Orthology
    more info
     
    part_of GABA-A receptor complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of GABA-A receptor complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    is_active_in GABA-ergic synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in GABA-ergic synapse IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    is_active_in GABA-ergic synapse ISO
    Inferred from Sequence Orthology
    more info
     
    located_in axon IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of chloride channel complex IEA
    Inferred from Electronic Annotation
    more info
     
    located_in dendrite IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in glutamatergic synapse ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in neuronal cell body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in postsynaptic membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in postsynaptic membrane ISO
    Inferred from Sequence Orthology
    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 delta
    Names
    GABA(A) receptor subunit delta
    GABAAR subunit delta

    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.

    mRNA and Protein(s)

    1. NM_001421172.1NP_001408101.1  gamma-aminobutyric acid receptor subunit delta isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AL670227
    2. NM_001421173.1NP_001408102.1  gamma-aminobutyric acid receptor subunit delta isoform 3 precursor

      Status: VALIDATED

      Source sequence(s)
      AL670227
    3. NM_008072.3NP_032098.2  gamma-aminobutyric acid receptor subunit delta isoform 1 precursor

      See identical proteins and their annotated locations for NP_032098.2

      Status: VALIDATED

      Source sequence(s)
      AL670227
      Consensus CDS
      CCDS19028.1
      UniProtKB/Swiss-Prot
      P22933
      UniProtKB/TrEMBL
      Q14AH9, Q8VBV6
      Related
      ENSMUSP00000030925.3, ENSMUST00000030925.3
      Conserved Domains (2) summary
      pfam02931
      Location:44246
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:255333
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000070.7 Reference GRCm39 C57BL/6J

      Range
      155469437..155482528 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036163680.1XP_036019573.1  gamma-aminobutyric acid receptor subunit delta isoform X2

      UniProtKB/TrEMBL
      Q8VBV6
      Conserved Domains (4) summary
      cd03558
      Location:198212
      LGIC_ECD; Cys-loop [structural motif]
      cd03559
      Location:290316
      LGIC_TM; TM3 helix [structural motif]
      cl28912
      Location:97265
      LGIC_ECD; extracellular domain (ECD) of Cys-loop neurotransmitter-gated ion channels (also known as ligand-gated ion channel (LGIC))
      cl38911
      Location:265319
      LGIC_TM; transmembrane domain of Cys-loop neurotransmitter-gated ion channels