About   Help   FAQ
Gabrg2 Gene Detail
Summary
  • Symbol
    Gabrg2
  • Name
    gamma-aminobutyric acid (GABA) A receptor, subunit gamma 2
  • Synonyms
    GABAA-R, Gabrg-2, gamma2
  • Feature Type
    protein coding gene
  • IDs
    MGI:95623
    NCBI Gene: 14406
  • Gene Overview
    MyGene.info: GABRG2
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:41801030-41891684 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 24.80 cM
  • Mapping Data
    11 experiments
Strain
Comparison
more
  • SNPs within 2kb
    556 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95623
 protein coding gene Chr11:41801017-41891684 (-)
129S1/SvImJ MGP_129S1SvImJ_G0018165
 protein coding gene Chr11:40579228-40674910 (-)
A/J MGP_AJ_G0018137
 protein coding gene Chr11:39037354-39133455 (-)
AKR/J MGP_AKRJ_G0018101
 protein coding gene Chr11:40173893-40267556 (-)
BALB/cJ MGP_BALBcJ_G0018106
 protein coding gene Chr11:39225364-39316168 (-)
C3H/HeJ MGP_C3HHeJ_G0017919
 protein coding gene Chr11:40209702-40309005 (-)
C57BL/6NJ MGP_C57BL6NJ_G0018560
 protein coding gene Chr11:41851972-41951101 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0016215
 protein coding gene Chr11:37200723-37292269 (-)
CAST/EiJ MGP_CASTEiJ_G0017483
 protein coding gene Chr11:40223448-40326852 (-)
CBA/J MGP_CBAJ_G0017892
 protein coding gene Chr11:43737829-43848764 (-)
DBA/2J MGP_DBA2J_G0018002
 protein coding gene Chr11:38809221-38900020 (-)
FVB/NJ MGP_FVBNJ_G0017996
 protein coding gene Chr11:38566225-38656826 (-)
LP/J MGP_LPJ_G0018074
 protein coding gene Chr11:40809012-40911694 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0018020
 protein coding gene Chr11:45216443-45346075 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0018599
 protein coding gene Chr11:40289808-40384497 (-)
PWK/PhJ MGP_PWKPhJ_G0017264
 protein coding gene Chr11:38828495-38924498 (-)
SPRET/EiJ MGP_SPRETEiJ_G0017056
 protein coding gene Chr11:40082638-40173709 (-)
WSB/EiJ MGP_WSBEiJ_G0017532
 protein coding gene Chr11:39967330-40065572 (-)



Homology
more
  • Human Ortholog
    GABRG2, gamma-aminobutyric acid type A receptor subunit gamma2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    GABRG2, gamma-aminobutyric acid type A receptor subunit gamma2
  • Synonyms
    CAE2, DEE74, ECA2, EIEE74, FEB8, GEFSP3
  • Links
    NCBI Gene ID: 2566
    neXtProt AC: NX_P18507
    UniProt: P18507

  • Chr Location
    5q34; chr5:162067642-162155539 (+)  GRCh38.p7
Human Diseases
more
  • Diseases
    1 with Gabrg2 mouse models; 2 with human GABRG2 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    41 phenotypes from 12 alleles in 15 genetic backgrounds
    1 phenotype from multigenic genotypes
    1 images
    75 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 targeted null mutation exhibit retarded postnatal growth, impaired sensorimotor function, and greatly reduced lifespan. Heterozygotes show enhanced anxiety-related behaviors.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    68
  • GO References
    13
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 population 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
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
    924
  • Tissues
    58
  • cDNA Data
    40
  • Literature Summary
    23
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000020436 Ensembl Gene Model | MGI Sequence Detail 90655 C57BL/6J ±  kb
    transcript ENSMUST00000070735 Ensembl | MGI Sequence Detail 2234 Not Applicable  
    polypeptide ENSMUSP00000063812 Ensembl | MGI Sequence Detail 474 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • Protein Ontology
      PR:000007778 gamma-aminobutyric acid receptor subunit gamma-2
      (term hierarchy)
    • PDB
      7CDB
    • InterPro Domains
      IPR005439 Gamma-aminobutyric-acid A receptor, gamma 2 subunit
      IPR005437 Gamma-aminobutyric-acid A receptor, gamma 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
    less
    • All nucleic 46
      Genomic 1
      cDNA 42
      Primer pair 3

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-9940, MGD-MRK-9942, MGI:2144307, MGI:2144603
    References
    more
    • Summaries
      All 169
      Developmental Gene Expression 23
      Diseases 1
      Gene Ontology 13
      Phenotypes 75
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:306976 Qu S, et al., The K328M substitution in the human GABAA receptor gamma2 subunit causes GEFS+ and premature sudden death in knock-in mice. Neurobiol Dis. 2021 May;152:105296
    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)
    Citing These Resources
    Funding Information
    Warranty Disclaimer & Copyright Notice
    Send questions and comments to User Support.     		last database update
    09/14/2021
    MGI 6.17     		The Jackson Laboratory