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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
Location & Maps
more
  • Sequence Map
    Chr11:41910203-42000857 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      90655 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 24.80 cM
  • Mapping Data
    11 experiments
Homology
more
  • Human Ortholog
    GABRG2, gamma-aminobutyric acid type A receptor gamma2 subunit
  • Vertebrate Orthologs
    10
  • Human Ortholog
    GABRG2, gamma-aminobutyric acid type A receptor gamma2 subunit
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CAE2, ECA2, GEFSP3
  • Links
    NCBI Gene ID: 2566
    neXtProt AC: NX_P18507
    UniProt: P18507

  • Chr Location
    5q34; chr5:162067642-162155539 (+)  GRCh38.p7
  • HomoloGene
    Vertebrate Homology Class 22443
    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: GABRG2
  • Gene Tree
    Gabrg2
Human Diseases
more
  • Diseases
    2 with human GABRG2 associations

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

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    35 phenotypes from 11 alleles in 14 genetic backgrounds
    1 images
    55 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 targeted null mutation exhibit retarded postnatal growth, impaired sensorimotor function, and greatly reduced lifespan. Heterozygotes show enhanced anxiety-related behaviors.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    39
  • GO References
    8
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
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
    286
  • Tissues
    55
  • cDNA Data
    37
  • Literature Summary
    18
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000006345 VEGA Gene Model | MGI Sequence Detail 90655 C57BL/6J ±  kb
transcript OTTMUST00000014428 VEGA | MGI Sequence Detail 2234 Not Applicable  
polypeptide OTTMUSP00000065449 VEGA | MGI Sequence Detail 474 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    563 from dbSNP Build 142
  • PCR
    1
  • RFLP
    1
Protein
Information
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  • UniProt
    4 Sequences
  • Protein Ontology
    PR:000007778 gamma-aminobutyric acid receptor subunit gamma-2
    (term hierarchy)
  • 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
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  • All nucleic 43
    Genomic 1
    cDNA 39
    Primer pair 3

    Microarray probesets 5
Other
Accession IDs
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MGD-MRK-9940, MGD-MRK-9942, MGI:2144307, MGI:2144603
References
more
  • Summaries
    All 139
    Developmental Gene Expression 18
    Gene Ontology 8
    Phenotypes 55
  • Earliest
    J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
  • Latest
    J:257148 Martenson JS, et al., Assembly rules for GABAA receptor complexes in the brain. Elife. 2017 Aug 17;6(None):None
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
04/17/2018
MGI 6.11 		The Jackson Laboratory