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    Gabra4 gamma-aminobutyric acid type A receptor subunit alpha 4 [ Mus musculus (house mouse) ]

    Gene ID: 14397, updated on 9-Dec-2024

    Summary

    Official Symbol
    Gabra4provided by MGI
    Official Full Name
    gamma-aminobutyric acid type A receptor subunit alpha 4provided by MGI
    Primary source
    MGI:MGI:95616
    See related
    Ensembl:ENSMUSG00000029211 AllianceGenome:MGI:95616
    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
    Also known as
    Gabra-4
    Summary
    Predicted to enable GABA-gated chloride ion channel activity and transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential. Predicted to contribute to GABA-A receptor activity; benzodiazepine receptor activity; and chloride channel activity. Acts upstream of or within central nervous system development. Predicted to be located in postsynaptic membrane. Predicted to be part of GABA-A receptor complex and transmembrane transporter complex. Predicted to be active in GABA-ergic synapse; dendrite membrane; and postsynaptic specialization membrane. Is expressed in several structures, including alimentary system; brain; eye; genitourinary system; and spinal cord. Human ortholog(s) of this gene implicated in autistic disorder. Orthologous to human GABRA4 (gamma-aminobutyric acid type A receptor subunit alpha4). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in cortex adult (RPKM 12.0), frontal lobe adult (RPKM 10.2) and 5 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Gabra4 in Genome Data Viewer
    Location:
    5 C3.2; 5 38.08 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (71727077..71815651, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (71569734..71658308, complement)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene gamma-aminobutyric acid type A receptor subunit alpha 2 Neighboring gene STARR-seq mESC enhancer starr_13347 Neighboring gene STARR-seq mESC enhancer starr_13349 Neighboring gene STARR-seq mESC enhancer starr_13350 Neighboring gene cytochrome c oxidase subunit 7B2 Neighboring gene STARR-seq mESC enhancer starr_13351 Neighboring gene STARR-seq mESC enhancer starr_13352 Neighboring gene STARR-seq mESC enhancer starr_13353 Neighboring gene STARR-seq mESC enhancer starr_13354 Neighboring gene gamma-aminobutyric acid type A receptor subunit beta 1 Neighboring gene predicted gene, 38562 Neighboring gene STARR-seq mESC enhancer starr_13355 Neighboring gene ribosomal protein L7A pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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)

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    contributes_to GABA-A receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables GABA-A receptor activity IEA
    Inferred from Electronic Annotation
    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 chloride channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables extracellular ligand-gated monoatomic ion channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    acts_upstream_of_or_within central nervous system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 IBA
    Inferred from Biological aspect of Ancestor
    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 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 ISO
    Inferred from Sequence Orthology
    more info
     
    part_of GABA-A receptor complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in GABA-ergic synapse ISO
    Inferred from Sequence Orthology
    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 postsynapse IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in postsynaptic specialization membrane ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

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

    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_001359041.1NP_001345970.1  gamma-aminobutyric acid receptor subunit alpha-4 isoform 1 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC163437, AK139970
      Consensus CDS
      CCDS89927.1
      UniProtKB/TrEMBL
      Q3URE7, Q3USX9
      Related
      ENSMUSP00000143675.2, ENSMUST00000199357.2
      Conserved Domains (1) summary
      cl27321
      Location:13565
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    2. NM_001359043.1NP_001345972.1  gamma-aminobutyric acid receptor subunit alpha-4 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC163437
      UniProtKB/TrEMBL
      Q3URE7
      Conserved Domains (1) summary
      cl27321
      Location:13460
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    3. NM_001359044.1NP_001345973.1  gamma-aminobutyric acid receptor subunit alpha-4 isoform 4 precursor

      Status: VALIDATED

      Source sequence(s)
      AC163437
    4. NM_001359045.1NP_001345974.1  gamma-aminobutyric acid receptor subunit alpha-4 isoform 5 precursor

      Status: VALIDATED

      Source sequence(s)
      AC163437
      Conserved Domains (1) summary
      cl27321
      Location:13314
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    5. NM_001359046.1NP_001345975.1  gamma-aminobutyric acid receptor subunit alpha-4 isoform 6 precursor

      Status: VALIDATED

      Source sequence(s)
      AC163437
      UniProtKB/TrEMBL
      Q3TRC7
      Conserved Domains (1) summary
      cl27321
      Location:13288
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    6. NM_001359047.1NP_001345976.1  gamma-aminobutyric acid receptor subunit alpha-4 isoform 7 precursor

      Status: VALIDATED

      Source sequence(s)
      AC163437
      UniProtKB/TrEMBL
      Q3TRC7
    7. NM_001359048.1NP_001345977.1  gamma-aminobutyric acid receptor subunit alpha-4 isoform 8 precursor

      Status: VALIDATED

      Source sequence(s)
      AC163437
      UniProtKB/TrEMBL
      Q3TRC7
      Conserved Domains (1) summary
      cl27321
      Location:13296
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    8. NM_001359050.1NP_001345979.1  gamma-aminobutyric acid receptor subunit alpha-4 isoform 9 precursor

      Status: VALIDATED

      Source sequence(s)
      AC163437
      Consensus CDS
      CCDS89928.1
      UniProtKB/TrEMBL
      A0A0G2JDR1
      Related
      ENSMUSP00000142466.2, ENSMUST00000198138.2
      Conserved Domains (1) summary
      cl27321
      Location:1368
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    9. NM_010251.2NP_034381.1  gamma-aminobutyric acid receptor subunit alpha-4 isoform 2 precursor

      See identical proteins and their annotated locations for NP_034381.1

      Status: VALIDATED

      Source sequence(s)
      AC114826, AK013727
      Consensus CDS
      CCDS39107.1
      UniProtKB/Swiss-Prot
      Q9D6F4
      UniProtKB/TrEMBL
      Q3URE7, Q543Z0
      Related
      ENSMUSP00000031121.6, ENSMUST00000031121.10
      Conserved Domains (3) summary
      TIGR00860
      Location:13539
      LIC; Cation transporter family protein
      pfam02931
      Location:49256
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:263536
      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_000071.7 Reference GRCm39 C57BL/6J

      Range
      71727077..71815651 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)