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

Gene ID: 14397, updated on 11-Apr-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; inhibitory extracellular ligand-gated ion channel activity; and transmitter-gated 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 integral component of membrane. Predicted to be part of GABA-A receptor complex. Predicted to be active in dendrite membrane and postsynapse. Predicted to be integral component of plasma 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, Apr 2022]
Expression
Biased expression in cortex adult (RPKM 12.0), frontal lobe adult (RPKM 10.2) and 5 other tissues See more
Orthologs
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Genomic context

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-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 extracellular ligand-gated monoatomic ion channel activity IEA
Inferred from Electronic Annotation
more info
 
enables monoatomic ion channel activity IEA
Inferred from Electronic Annotation
more info
 
enables transmembrane signaling receptor 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 ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within chloride transport IEA
Inferred from Electronic Annotation
more info
 
involved_in chloride transport IEA
Inferred from Electronic Annotation
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 inhibitory synapse assembly IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within monoatomic ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in monoatomic ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within monoatomic ion transport IEA
Inferred from Electronic Annotation
more info
 
involved_in monoatomic ion transport IEA
Inferred from Electronic Annotation
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
 
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
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
 
is_active_in plasma 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
 
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 alpha-4
Names
GABA(A) receptor subunit alpha-4
gamma-aminobutyric acid (GABA) A receptor, subunit alpha 4

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.

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)