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Gabra2 Gene Detail
Summary
  • Symbol
    Gabra2
  • Name
    gamma-aminobutyric acid (GABA) A receptor, subunit alpha 2
  • Synonyms
    C630048P16Rik, Gabra-2
  • Feature Type
    protein coding gene
  • IDs
    MGI:95614
    NCBI Gene: 14395
  • Gene Overview
    MyGene.info: GABRA2
Location & Maps
more
  • Sequence Map
    Chr5:70957597-71095849 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      138253 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 37.59 cM
  • Mapping Data
    14 experiments
  • Sequence Tags
Homology
more
  • Human Ortholog
    GABRA2, gamma-aminobutyric acid type A receptor alpha2 subunit
  • Vertebrate Orthologs
    11
  • Human Ortholog
    GABRA2, gamma-aminobutyric acid type A receptor alpha2 subunit
    Orthology source: HomoloGene
  • Links
    NCBI Gene ID: 2555
    neXtProt AC: NX_P47869

  • Chr Location
    4p12; chr4:46243548-46390039 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human GABRA2 associations

Human Disease Mouse Models
       Alcohol Dependence   OMIM: 103780
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    14 phenotypes from 6 alleles in 6 genetic backgrounds
    37 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    11
  • Chemically induced (other)
    2
  • Radiation induced
    1
  • Spontaneous
    1
  • Targeted
    7
  • Genomic Mutations
    4 involving Gabra2
  • Incidental Mutations
Mice homozygous for a knockout allele are resistant to the anxiolytic effects of diazepam (DZP). Mice homozygous for a different knock-out allele exhibit reduced DZP-induced antihyperalgesia.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000054189 VEGA Gene Model | MGI Sequence Detail 138253 C57BL/6J ±  kb
transcript OTTMUST00000134556 VEGA | MGI Sequence Detail 5852 Not Applicable  
polypeptide OTTMUSP00000071349 VEGA | MGI Sequence Detail 451 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    480 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    4 Sequences
  • Protein Ontology
    PR:000007767 gamma-aminobutyric acid receptor subunit alpha-2
  • InterPro Domains
    IPR005432 Gamma-aminobutyric-acid A receptor, alpha 2 subunit
    IPR001390 Gamma-aminobutyric-acid A receptor, alpha subunit
    IPR006028 Gamma-aminobutyric acid A receptor/Glycine receptor alpha
    IPR006201 Neurotransmitter-gated ion-channel
    IPR018000 Neurotransmitter-gated ion-channel, conserved site
    IPR006202 Neurotransmitter-gated ion-channel ligand-binding domain
    IPR006029 Neurotransmitter-gated ion-channel transmembrane domain
Molecular
Reagents
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  • All nucleic 28
    Genomic 12
    cDNA 13
    Primer pair 3

    Microarray probesets 5
Other
Accession IDs
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MGD-MRK-9923, MGD-MRK-9928, MGI:1925960
References
more
  • Summaries
    All 81
    Developmental Gene Expression 12
    Gene Ontology 7
    Phenotypes 37
  • Earliest
    J:23686 Buckle VJ, et al., Chromosomal localization of GABAA receptor subunit genes: relationship to human genetic disease. Neuron. 1989 Nov;3(5):647-54
  • Latest
    J:222724 Ralvenius WT, et al., Analgesia and unwanted benzodiazepine effects in point-mutated mice expressing only one benzodiazepine-sensitive GABAA receptor subtype. Nat Commun. 2015;6:6803

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory