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Gabrb3 Gene Detail
Summary
  • Symbol
    Gabrb3
  • Name
    GABRB3, gamma-aminobutyric acid type A receptor subunit beta 3
  • Synonyms
    A230092K12Rik, beta3, Gabrb-3
  • Feature Type
    protein coding gene
  • IDs
    MGI:95621
    NCBI Gene: 14402
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:57240266-57478550 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 33.53 cM
  • Mapping Data
    15 experiments
Strain
Comparison
more
  • SNPs within 2kb
    7536 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    7
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95621
 protein coding gene Chr7:57069440-57478550 (+)
129S1/SvImJ MGP_129S1SvImJ_G0032320
 protein coding gene Chr7:58237204-58662318 (+)
A/J MGP_AJ_G0032299
 protein coding gene Chr7:57360550-57774185 (+)
AKR/J MGP_AKRJ_G0032235
 protein coding gene Chr7:58682261-59101737 (+)
BALB/cJ MGP_BALBcJ_G0032311
 protein coding gene Chr7:56941950-57367709 (+)
C3H/HeJ MGP_C3HHeJ_G0032024
 protein coding gene Chr7:59028833-59444846 (+)
C57BL/6NJ MGP_C57BL6NJ_G0032804
 protein coding gene Chr7:60874158-61320055 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0029811
 protein coding gene Chr7:59928134-60322206 (+)
CAST/EiJ MGP_CASTEiJ_G0031353
 protein coding gene Chr7:50205552-50645571 (+)
CBA/J MGP_CBAJ_G0031989
 protein coding gene Chr7:62975983-63432745 (+)
DBA/2J MGP_DBA2J_G0032146
 protein coding gene Chr7:56350224-56771128 (+)
FVB/NJ MGP_FVBNJ_G0032100
 protein coding gene Chr7:56293835-56708247 (+)
LP/J MGP_LPJ_G0032227
 protein coding gene Chr7:59353231-59782644 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0032137
 protein coding gene Chr7:62561747-62997339 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0032821
 protein coding gene Chr7:57684857-58111992 (+)
PWK/PhJ MGP_PWKPhJ_G0031073
 protein coding gene Chr7:49567892-49991873 (+)
SPRET/EiJ MGP_SPRETEiJ_G0030914
 protein coding gene Chr7:45722724-46172761 (+)
WSB/EiJ MGP_WSBEiJ_G0031471
 protein coding gene Chr7:58287353-58713132 (+)



Homology
more
  • Human Ortholog
    GABRB3, gamma-aminobutyric acid type A receptor subunit beta3
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    GABRB3, gamma-aminobutyric acid type A receptor subunit beta3
  • Synonyms
    DEE43, ECA5, EIEE43
  • Links
    NCBI Gene ID: 2562
    neXtProt AC: NX_P28472
    UniProt: P28472

  • Chr Location
    15q12; chr15:26543552-26939539 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Gabrb3 mouse models; 5 with human GABRB3 associations

Human Disease Mouse Models
      
IDs
 View 5 models
      
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    7 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    75 phenotypes from 5 alleles in 9 genetic backgrounds
    117 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.
Homozygous null mutants die at birth with cleft palate. Survivors show delayed growth, reduced lifespan, seizures, ataxia, hyperactivity, hyperresponsiveness and reduced learning, mothering ability and REM sleep. A point mutation lowers anesthetic effect.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    78
  • GO References
    29
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
    878
  • Tissues
    66
  • cDNA Data
    19
  • Literature Summary
    24
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 14402 NCBI Gene Model | MGI Sequence Detail 238285 C57BL/6J ±  kb
    transcript NM_008071 RefSeq | MGI Sequence Detail 5568 C57BL/6  
    polypeptide P63080 UniProt | EBI | MGI Sequence Detail 473 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • Protein Ontology
      PR:000007774 gamma-aminobutyric acid receptor subunit beta-3
      (term hierarchy)
    • InterPro Domains
      IPR002289 Gamma-aminobutyric-acid A receptor, beta subunit
      IPR006028 Gamma-aminobutyric acid A receptor/Glycine receptor alpha
      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
      P63080 4 sites, 6 N-linked glycans (2 sites), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 27
      Genomic 3
      cDNA 21
      Primer pair 3

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-26107, MGD-MRK-9935, MGD-MRK-9938, MGI:2444282, MGI:3034342
    References
    more
    • Summaries
      All 199
      Developmental Gene Expression 24
      Diseases 7
      Gene Ontology 29
      Phenotypes 117
    • Earliest
      J:2967 Wagstaff J, et al., The GABAA receptor beta 3 subunit gene: characterization of a human cDNA from chromosome 15q11q13 and mapping to a region of conserved synteny on mouse chromosome 7. Genomics. 1991 Dec;11(4):1071-8
    • Latest
      J:354271 Handforth A, et al., A Role for GABA(A) Receptor beta3 Subunits in Mediating Harmaline Tremor Suppression by Alcohol: Implications for Essential Tremor Therapy. Tremor Other Hyperkinet Mov (N Y). 2024;14:20
    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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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory