About   Help   FAQ
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
    gene page
  • 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
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 37.24 cM
  • Mapping Data
    22 experiments
Strain
Comparison
more
  • SNPs within 2kb
    3878 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    6
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
less
  • Phenotype Summary
    6 phenotypes from 3 alleles in 3 genetic backgrounds
    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.
Hemizygous males exhibit hyperactivity and an increased startle response with impaired prepulse inhibition.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    33
  • GO References
    8
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    814
  • Tissues
    60
  • cDNA Data
    10
  • Literature Summary
    16
Sequences &
Gene Models
less
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
less
  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000007768 gamma-aminobutyric acid receptor subunit alpha-3
    (term hierarchy)
  • PDB
    8G4X, 8G5F, 8G5G, 8G5H
  • 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
  • GlyGen
    P26049 4 sites, 12 N-linked glycans (4 sites)
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 98
    Developmental Gene Expression 16
    Gene Ontology 8
    Phenotypes 28
  • 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:355330 Neumann E, et al., gamma1 GABA(A) Receptors in Spinal Nociceptive Circuits. J Neurosci. 2024 Oct 9;44(41)
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, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/05/2024
MGI 6.24 		The Jackson Laboratory