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Gabrb2 Gene Detail
Summary
  • Symbol
    Gabrb2
  • Name
    gamma-aminobutyric acid type A receptor subunit beta 2
  • Synonyms
    C030002O17Rik, C030021G16Rik, Gabrb-2
  • Feature Type
    protein coding gene
  • IDs
    MGI:95620
    NCBI Gene: 14401
  • Alliance
    gene page
  • Transcription Start Sites
    11 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:42310584-42519855 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 25.08 cM
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    6338 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95620
 protein coding gene Chr11:42310342-42523418 (+)
129S1/SvImJ MGP_129S1SvImJ_G0018168
 protein coding gene Chr11:41135230-41353718 (+)
A/J MGP_AJ_G0018140
 protein coding gene Chr11:39562473-39777393 (+)
AKR/J MGP_AKRJ_G0018104
 protein coding gene Chr11:40724190-40937885 (+)
BALB/cJ MGP_BALBcJ_G0018109
 protein coding gene Chr11:39744553-39957595 (+)
C3H/HeJ MGP_C3HHeJ_G0017922
 protein coding gene Chr11:40765682-40980997 (+)
C57BL/6NJ MGP_C57BL6NJ_G0018563
 protein coding gene Chr11:42399334-42630744 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0016218
 protein coding gene Chr11:37697852-37901708 (+)
CAST/EiJ MGP_CASTEiJ_G0017486
 protein coding gene Chr11:40782763-41016080 (+)
CBA/J MGP_CBAJ_G0017895
 protein coding gene Chr11:44354020-44592070 (+)
DBA/2J MGP_DBA2J_G0018005
 protein coding gene Chr11:39346440-39569292 (+)
FVB/NJ MGP_FVBNJ_G0017999
 protein coding gene Chr11:39070764-39280634 (+)
LP/J MGP_LPJ_G0018077
 protein coding gene Chr11:41370542-41590521 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0018023
 protein coding gene Chr11:45942746-46198714 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0018602
 protein coding gene Chr11:40856132-41079277 (+)
PWK/PhJ MGP_PWKPhJ_G0017267
 protein coding gene Chr11:39358213-39574919 (+)
SPRET/EiJ MGP_SPRETEiJ_G0017059
 protein coding gene Chr11:40624505-40849126 (+)
WSB/EiJ MGP_WSBEiJ_G0017535
 protein coding gene Chr11:40508734-40732240 (+)



Homology
more
  • Human Ortholog
    GABRB2, gamma-aminobutyric acid type A receptor subunit beta2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    GABRB2, gamma-aminobutyric acid type A receptor subunit beta2
  • Synonyms
    DEE92, ICEE2
  • Links
    NCBI Gene ID: 2561
    neXtProt AC: NX_P47870
    UniProt: P47870

  • Chr Location
    5q34; chr5:161288429-161549044 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with human GABRB2 associations

Human Disease Mouse Models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    14 phenotypes from 2 alleles in 1 genetic background
    1 phenotype from multigenic genotypes
    23 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.
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
less
  • All GO Annotations
    56
  • GO References
    15
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    956
  • Tissues
    146
  • cDNA Data
    19
  • Literature Summary
    19
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000007653 Ensembl Gene Model | MGI Sequence Detail 209272 C57BL/6J ±  kb
    transcript ENSMUST00000192403 Ensembl | MGI Sequence Detail 1539 Not Applicable  
    polypeptide ENSMUSP00000141868 Ensembl | MGI Sequence Detail 512 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      3 Sequences
    • Protein Ontology
      PR:000007773 gamma-aminobutyric acid receptor subunit beta-2
      (term hierarchy)
    • PDB
      8FOI, 8G4N, 8G4O, 8G4X, 8G5F, 8G5G, 8G5H
    • InterPro Domains
      IPR002289 Gamma-aminobutyric-acid A receptor, beta subunit
      IPR006028 Gamma-aminobutyric acid A receptor/Glycine receptor alpha
      IPR038050 Neuronal acetylcholine receptor
      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
    • GlyGen
      P63137 4 sites, 7 N-linked glycans (1 site), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 24
      cDNA 20
      Primer pair 3
      Other 1

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGD-MRK-9934, MGD-MRK-9937, MGI:1924780, MGI:1925783, MGI:2144269
    References
    more
    • Summaries
      All 98
      Developmental Gene Expression 19
      Gene Ontology 15
      Phenotypes 23
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:354903 Liang D, et al., A GABAergic system in atrioventricular node pacemaker cells controls electrical conduction between the atria and ventricles. Cell Res. 2024 Aug;34(8):556-571
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory