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Gabrb2 Gene Detail
Summary
  • Symbol
    Gabrb2
  • Name
    gamma-aminobutyric acid (GABA) A receptor, subunit beta 2
  • Synonyms
    C030002O17Rik, C030021G16Rik, Gabrb-2
  • Feature Type
    protein coding gene
  • IDs
    MGI:95620
    NCBI Gene: 14401
  • Gene Overview
    MyGene.info: GABRB2
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr11:42419757-42629028 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      209272 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 25.08 cM
  • Mapping Data
    6 experiments
Homology
more
  • Human Ortholog
    GABRB2, gamma-aminobutyric acid type A receptor beta2 subunit
  • Vertebrate Orthologs
    10
  • Human Ortholog
    GABRB2, gamma-aminobutyric acid type A receptor beta2 subunit
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ICEE2
  • Links
    NCBI Gene ID: 2561
    neXtProt AC: NX_P47870
    UniProt: P47870

  • Chr Location
    5q34; chr5:161288429-161548124 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 7327
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: GABRB2
  • Gene Tree
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    15 phenotypes from 3 alleles in 1 genetic background
    18 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygotes for a null allele show hyperactivity and abnormal GABA-mediated receptor currents. Homozygotes for a derivative of this allele show a sexually dimorphic cochlear phenotype associated with OHC dysfunction. Homozygotes for a knock-in allele show altered behavioral response to etomidate.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000006331 VEGA Gene Model | MGI Sequence Detail 209272 C57BL/6J ±  kb
    transcript OTTMUST00000131092 VEGA | MGI Sequence Detail 1539 Not Applicable  
    polypeptide OTTMUSP00000070164 VEGA | MGI Sequence Detail 512 Not Applicable  
    For the selected sequence
    Polymorphisms
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    • SNPs within 2kb
      1659 from dbSNP Build 142
    Protein
    Information
    less
    • UniProt
      3 Sequences
    • Protein Ontology
      PR:000007773 gamma-aminobutyric acid receptor subunit beta-2
    • InterPro Domains
      IPR002289 Gamma-aminobutyric-acid A receptor, beta 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
      IPR036734 Neurotransmitter-gated ion-channel ligand-binding domain superfamily
      IPR006029 Neurotransmitter-gated ion-channel transmembrane domain
      IPR036719 Neurotransmitter-gated ion-channel transmembrane domain superfamily
    Molecular
    Reagents
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    • All nucleic 24
      cDNA 20
      Primer pair 3
      Other 1

      Microarray probesets 7
    Other
    Accession IDs
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    MGD-MRK-9934, MGD-MRK-9937, MGI:1924780, MGI:1925783, MGI:2144269
    References
    more
    • Summaries
      All 78
      Developmental Gene Expression 15
      Gene Ontology 10
      Phenotypes 18
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:256001 Jung EM, et al., Arid1b haploinsufficiency disrupts cortical interneuron development and mouse behavior. Nat Neurosci. 2017 Dec;20(12):1694-1707

    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
    10/09/2018
    MGI 6.12
    The Jackson Laboratory