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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
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
    10 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

  • Chr Location
    5q34; chr5:162067642-162155539 (+)  GRCh38.p2
Human Diseases
more
  • Diseases
    2 with human GABRG2 associations

Human Disease Mouse Models
       Epilepsy, Childhood Absence, Susceptibility to, 2; ECA2   OMIM: 607681
Generalized Epilepsy with Febrile Seizures Plus, Type 3; GEFSP3   OMIM: 611277
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
    46 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
    16
  • Chemically induced (other)
    1
  • Gene trapped
    1
  • Radiation induced
    1
  • Targeted
    13
  • Genomic Mutations
    2 involving Gabrg2
  • Incidental Mutations
    Mutagenetix , APF , CvDC
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
    37
  • GO References
    8
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
    286
  • Tissues
    55
  • cDNA Data
    37
  • Literature Summary
    16
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
  • 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
    IPR006029 Neurotransmitter-gated ion-channel transmembrane domain
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 115
    Developmental Gene Expression 16
    Gene Ontology 8
    Phenotypes 46
  • Earliest
    J:10726 Shivers BD, et al., Two novel GABAA receptor subunits exist in distinct neuronal subpopulations. Neuron. 1989 Sep;3(3):327-37
  • Latest
    J:225811 Kim ER, et al., Hypothalamic Non-AgRP, Non-POMC GABAergic Neurons Are Required for Postweaning Feeding and NPY Hyperphagia. J Neurosci. 2015 Jul 22;35(29):10440-50
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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Send questions and comments to User Support. 		last database update
09/27/2016
MGI 6.05 		The Jackson Laboratory