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Gabra6 Gene Detail
Summary
  • Symbol
    Gabra6
  • Name
    gamma-aminobutyric acid (GABA) A receptor, subunit alpha 6
  • Synonyms
    alpha6, GABA-ARalpha6, Gabra-6
  • Feature Type
    protein coding gene
  • IDs
    MGI:95618
    NCBI Gene: 14399
  • Gene Overview
    MyGene.info: GABRA6
Location & Maps
more
  • Sequence Map
    Chr11:42306437-42321072 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      14636 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 25.03 cM
  • Mapping Data
    20 experiments
Homology
more
  • Human Ortholog
    GABRA6, gamma-aminobutyric acid type A receptor alpha6 subunit
  • Vertebrate Orthologs
    10
  • Human Ortholog
    GABRA6, gamma-aminobutyric acid type A receptor alpha6 subunit
    Orthology source: HomoloGene
  • Links
    NCBI Gene ID: 2559
    neXtProt AC: NX_Q16445

  • Chr Location
    5q34; chr5:161685652-161702592 (+)  GRCh38.p2

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    6 phenotypes from 3 alleles in 4 genetic backgrounds
    12 phenotypes from multigenic genotypes
    28 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
    7
  • Chemically induced (other)
    1
  • Radiation induced
    1
  • Targeted
    5
  • Genomic Mutations
    2 involving Gabra6
  • Incidental Mutations
Mice homozygous for a knock-out allele are viable and fertile with normal cerebellar cytoarchitecture and normal responses to ethanol, pentobarbital and general anesthetics. Mice homozygous for a reporter allele are behaviorally normal and lack a cochlear phenotype.
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 OTTMUSG00000006343 VEGA Gene Model | MGI Sequence Detail 14636 C57BL/6J ±  kb
transcript OTTMUST00000014422 VEGA | MGI Sequence Detail 2467 Not Applicable  
polypeptide OTTMUSP00000006690 VEGA | MGI Sequence Detail 453 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    69 from dbSNP Build 142
  • PCR
  • RFLP
Protein
Information
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  • UniProt
    1 Sequence
  • Protein Ontology
    PR:000007771 gamma-aminobutyric acid receptor subunit alpha-6
  • InterPro Domains
    IPR005436 Gamma-aminobutyric-acid A receptor, alpha 6 subunit
    IPR001390 Gamma-aminobutyric-acid A receptor, alpha 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 11
    cDNA 10
    Primer pair 1

    Microarray probesets 5
Other
Accession IDs
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MGD-MRK-9926, MGD-MRK-9932
References
more
  • Summaries
    All 97
    Developmental Gene Expression 20
    Gene Ontology 4
    Phenotypes 28
  • Earliest
    J:39891 Kato K, Novel GABAA receptor alpha subunit is expressed only in cerebellar granule cells. J Mol Biol. 1990 Aug 5;214(3):619-24
  • Latest
    J:221789 Mo J, et al., Early growth response 1 (Egr-1) directly regulates GABAA receptor alpha2, alpha4, and theta subunits in the hippocampus. J Neurochem. 2015 May;133(4):489-500

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
06/22/2016
MGI 6.04
The Jackson Laboratory