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Gabra3 Gene Detail
Summary
  • Symbol
    Gabra3
  • Name
    gamma-aminobutyric acid type A receptor subunit alpha 3
  • Synonyms
    Gabra-3
  • Feature Type
    protein coding gene
  • IDs
    MGI:95615
    NCBI Gene: 14396
  • Alliance
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:71476287-71700454 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome X, 37.24 cM
  • Mapping Data
    22 experiments
Strain
Comparison
more
  • SNPs within 2kb
    540 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95615
protein coding gene ChrX:71476282-71700525 (-)
129S1/SvImJ MGP_129S1SvImJ_G0035793
protein coding gene ChrX:68120444-68346899 (-)
A/J MGP_AJ_G0035777
protein coding gene ChrX:68335974-68544474 (-)
AKR/J MGP_AKRJ_G0035699
protein coding gene ChrX:70182304-70399832 (-)
BALB/cJ MGP_BALBcJ_G0035764
protein coding gene ChrX:67369392-67593403 (-)
C3H/HeJ MGP_C3HHeJ_G0035467
protein coding gene ChrX:68618375-68843838 (-)
C57BL/6NJ MGP_C57BL6NJ_G0036294
protein coding gene ChrX:70205463-70426436 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0033141
protein coding gene ChrX:67517390-67718639 (-)
CAST/EiJ MGP_CASTEiJ_G0034759
protein coding gene ChrX:53977747-54190265 (-)
CBA/J MGP_CBAJ_G0035442
protein coding gene ChrX:72109144-72335372 (-)
DBA/2J MGP_DBA2J_G0035595
protein coding gene ChrX:67820752-68041815 (-)
FVB/NJ MGP_FVBNJ_G0035546
protein coding gene ChrX:67165676-67383392 (-)
LP/J MGP_LPJ_G0035684
protein coding gene ChrX:68962659-69206626 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0035581
protein coding gene ChrX:74714924-74947273 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0036315
protein coding gene ChrX:67972259-68199765 (-)
PWK/PhJ MGP_PWKPhJ_G0034459
protein coding gene ChrX:51992175-52195404 (-)
SPRET/EiJ MGP_SPRETEiJ_G0034294
protein coding gene ChrX:54884396-55115228 (-)
WSB/EiJ MGP_WSBEiJ_G0034901
protein coding gene ChrX:67295521-67505099 (-)



Homology
more
  • Human Ortholog
    GABRA3, gamma-aminobutyric acid type A receptor subunit alpha3
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    GABRA3, gamma-aminobutyric acid type A receptor subunit alpha3
  • Synonyms
    EPILX2
  • Links
    NCBI Gene ID: 2556
    neXtProt AC: NX_P34903
    UniProt: P34903

  • Chr Location
    Xq28; chrX:152166234-152451315 (-)  GRCh38

Human Diseases
more
  • Diseases
    2 with human GABRA3 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
    6 phenotypes from 3 alleles in 3 genetic backgrounds
    27 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.
Hemizygous males exhibit hyperactivity and an increased startle response with impaired prepulse inhibition.
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
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000031343 Ensembl Gene Model | MGI Sequence Detail 224168 C57BL/6J ±  kb
transcript ENSMUST00000114554 Ensembl | MGI Sequence Detail 1790 Not Applicable  
polypeptide ENSMUSP00000110201 Ensembl | MGI Sequence Detail 533 Not Applicable  
For the selected sequence
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000007768 gamma-aminobutyric acid receptor subunit alpha-3
  • PDB
  • InterPro Domains
    IPR005433 Gamma-aminobutyric-acid A receptor, alpha 3 subunit
    IPR001390 Gamma-aminobutyric-acid A receptor, alpha subunit
    IPR006028 Gamma-aminobutyric acid A receptor/Glycine receptor alpha
    IPR047024 Gamma-aminobutyric acid receptor subunit alpha 1-6, transmembrane domain
    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
Molecular
Reagents
less
  • All nucleic 22
    Genomic 9
    cDNA 11
    Primer pair 2

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-9924, MGD-MRK-9929
References
more
  • Summaries
    All 92
    Developmental Gene Expression 12
    Gene Ontology 6
    Phenotypes 27
  • Earliest
    J:12515 Barnard PJ, et al., Localization of the GABA-A receptor alpha-3 subunit gene on the mouse X Chromosome. Cytogenet Cell Genet. 1989;51:958 (Abstr.)
  • Latest
    J:341383 Salamon I, et al., Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex. Nat Commun. 2023 Sep 27;14(1):6025

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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last database update
03/12/2024
MGI 6.23
The Jackson Laboratory