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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
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
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  • 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
  • Links
    NCBI Gene ID: 2561
    neXtProt AC: NX_P47870

  • Chr Location
    5q34; chr5:161288419-161548124 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 7327
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • 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
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
    8
  • Chemically induced (other)
    1
  • Gene trapped
    2
  • Radiation induced
    1
  • Targeted
    4
  • Genomic Mutations
    2 involving Gabrb2
  • Incidental Mutations
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
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 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
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  • 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
    IPR006029 Neurotransmitter-gated ion-channel transmembrane domain
Molecular
Reagents
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  • All nucleic 19
    cDNA 16
    Primer pair 3

    Microarray probesets 7
Other
Accession IDs
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MGD-MRK-9934, MGD-MRK-9937, MGI:1924780, MGI:1925783, MGI:2144269
References
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  • Summaries
    All 69
    Developmental Gene Expression 12
    Gene Ontology 8
    Phenotypes 18
  • Earliest
    J:654 Wang JB, et al., Differential expression of two forms of GABAA receptor gamma 2-subunit in mice. Brain Res Bull. 1991 Nov;27(5):731-5
  • Latest
    J:224457 He Q, et al., Interneuron- and GABA(A) receptor-specific inhibitory synaptic plasticity in cerebellar Purkinje cells. Nat Commun. 2015;6:7364

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
07/19/2016
MGI 6.04
The Jackson Laboratory