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Gabra5 Gene Detail
Summary
  • Symbol
    Gabra5
  • Name
    gamma-aminobutyric acid type A receptor subunit alpha 5
  • Synonyms
    A230018I05Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:95617
    NCBI Gene: 110886
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:57057420-57159807 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 33.52 cM
  • Mapping Data
    9 experiments
Strain
Comparison
more
  • SNPs within 2kb
    3351 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    3
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95617
 protein coding gene Chr7:57057417-57240808 (-)
129S1/SvImJ MGP_129S1SvImJ_G0032319
 protein coding gene Chr7:58226119-58333835 (-)
A/J MGP_AJ_G0032298
 protein coding gene Chr7:57347415-57450930 (-)
AKR/J MGP_AKRJ_G0032234
 protein coding gene Chr7:58671176-58778943 (-)
BALB/cJ MGP_BALBcJ_G0032310
 protein coding gene Chr7:56929656-57036013 (-)
C3H/HeJ MGP_C3HHeJ_G0032023
 protein coding gene Chr7:59016807-59120790 (-)
C57BL/6NJ MGP_C57BL6NJ_G0032803
 protein coding gene Chr7:60861053-60966567 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0029810
 protein coding gene Chr7:59914093-60010386 (-)
CAST/EiJ MGP_CASTEiJ_G0031352
 protein coding gene Chr7:50193036-50300167 (-)
CBA/J MGP_CBAJ_G0031988
 protein coding gene Chr7:62963956-63073794 (-)
DBA/2J MGP_DBA2J_G0032145
 protein coding gene Chr7:56339139-56441371 (-)
FVB/NJ MGP_FVBNJ_G0032099
 protein coding gene Chr7:56281086-56384468 (-)
LP/J MGP_LPJ_G0032226
 protein coding gene Chr7:59341204-59444572 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0032136
 protein coding gene Chr7:62548701-62657377 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0032820
 protein coding gene Chr7:57670525-57773165 (-)
PWK/PhJ MGP_PWKPhJ_G0031072
 protein coding gene Chr7:49555808-49659881 (-)
SPRET/EiJ MGP_SPRETEiJ_G0030913
 protein coding gene Chr7:45710603-45811712 (-)
WSB/EiJ MGP_WSBEiJ_G0031470
 protein coding gene Chr7:58275067-58380223 (-)



Homology
more
  • Human Ortholog
    GABRA5, gamma-aminobutyric acid type A receptor subunit alpha5
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    GABRA5, gamma-aminobutyric acid type A receptor subunit alpha5
  • Synonyms
    DEE79, EIEE79
  • Links
    NCBI Gene ID: 2558
    neXtProt AC: NX_P31644
    UniProt: P31644

  • Chr Location
    15q12; chr15:26866719-26949208 (+)  GRCh38
Human Diseases
more
  • Diseases
    3 with human GABRA5 associations

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

  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    29 phenotypes from 3 alleles in 4 genetic backgrounds
    97 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.
Mice having disruptions in this gene display abnormalities in hearing and in ear structure. Subtle abnormalities in learning and in conditioning have also been reported.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    55
  • GO References
    13
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
    790
  • Tissues
    56
  • cDNA Data
    9
  • Literature Summary
    17
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000055078 Ensembl Gene Model | MGI Sequence Detail 102388 C57BL/6J ±  kb
    transcript ENSMUST00000068456 Ensembl | MGI Sequence Detail 2671 Not Applicable  
    polypeptide ENSMUSP00000063276 Ensembl | MGI Sequence Detail 463 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • Protein Ontology
      PR:000007770 gamma-aminobutyric acid receptor subunit alpha-5
      (term hierarchy)
    • InterPro Domains
      IPR005435 Gamma-aminobutyric-acid A receptor, alpha 5 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
      Q8BHJ7 4 sites, 8 N-linked glycans (2 sites)
    Molecular
    Reagents
    less
    • All nucleic 14
      cDNA 12
      Primer pair 2

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGD-MRK-9931, MGI:2442273
    References
    more
    • Summaries
      All 163
      Developmental Gene Expression 17
      Diseases 4
      Gene Ontology 13
      Phenotypes 97
    • Earliest
      J:16353 Khrestchatisky M, et al., A novel alpha subunit in rat brain GABAA receptors. Neuron. 1989 Dec;3(6):745-53
    • Latest
      J:350003 Zavalin K, et al., Region and layer-specific expression of GABA(A) receptor isoforms and KCC2 in developing cortex. Front Cell Neurosci. 2024;18:1390742
    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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    Send questions and comments to User Support.     		last database update
    12/17/2024
    MGI 6.24     		The Jackson Laboratory