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Gja3 Gene Detail
Summary
  • Symbol
    Gja3
  • Name
    gap junction protein, alpha 3
  • Synonyms
    alpha 3 connexin, connexin 46, Cx46, Gja-3
  • Feature Type
    protein coding gene
  • IDs
    MGI:95714
    NCBI Gene: 14611
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr14:57271917-57295487 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 14, 29.82 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    611 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95714
 protein coding gene Chr14:57271917-57295557 (-)
129S1/SvImJ MGP_129S1SvImJ_G0021401
 protein coding gene Chr14:51189487-51211795 (-)
A/J MGP_AJ_G0021362
 protein coding gene Chr14:50188904-50211313 (-)
AKR/J MGP_AKRJ_G0021337
 protein coding gene Chr14:51943083-51965852 (-)
BALB/cJ MGP_BALBcJ_G0021365
 protein coding gene Chr14:50130347-50154666 (-)
C3H/HeJ MGP_C3HHeJ_G0021144
 protein coding gene Chr14:51595025-51618011 (-)
C57BL/6NJ MGP_C57BL6NJ_G0021804
 protein coding gene Chr14:53735906-53761148 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0019344
 protein coding gene Chr14:48275018-48296457 (-)
CAST/EiJ MGP_CASTEiJ_G0020662
 protein coding gene Chr14:47931693-47954084 (-)
CBA/J MGP_CBAJ_G0021111
 protein coding gene Chr14:55308036-55332700 (-)
DBA/2J MGP_DBA2J_G0021232
 protein coding gene Chr14:49868655-49891099 (-)
FVB/NJ MGP_FVBNJ_G0021213
 protein coding gene Chr14:49249934-49272579 (-)
LP/J MGP_LPJ_G0021307
 protein coding gene Chr14:52234146-52256442 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0021241
 protein coding gene Chr14:54695685-54720285 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0021828
 protein coding gene Chr14:51090605-51112953 (-)
PWK/PhJ MGP_PWKPhJ_G0020405
 protein coding gene Chr14:46397124-46420539 (-)
SPRET/EiJ MGP_SPRETEiJ_G0020238
 protein coding gene Chr14:47167702-47190023 (-)
WSB/EiJ MGP_WSBEiJ_G0020714
 protein coding gene Chr14:51419003-51443011 (-)



Homology
more
  • Human Ortholog
    GJA3, gap junction protein alpha 3
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    GJA3, gap junction protein alpha 3
  • Synonyms
    CTRCT14, CX46, CZP3
  • Links
    NCBI Gene ID: 2700
    neXtProt AC: NX_Q9Y6H8
    UniProt: Q9Y6H8

  • Chr Location
    13q12.11; chr13:20138255-20161565 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Gja3 mouse models; 1 with human GJA3 associations

Human Disease Mouse Models
      
IDs
 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    3 phenotypes from 1 allele in 1 genetic background
    4 phenotypes from multigenic genotypes
    1 images
    30 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 mutants exhibit lens nuclear cataracts associated with breakdown of gamma crystallin. Severity of the defect is influenced by genetic background.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    23
  • 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
    753
  • Tissues
    41
  • cDNA Data
    9
  • Literature Summary
    10
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 14611 NCBI Gene Model | MGI Sequence Detail 23571 C57BL/6J ±  kb
    transcript NM_016975 RefSeq | MGI Sequence Detail 2696 Not Specified  
    polypeptide Q64448 UniProt | EBI | MGI Sequence Detail 417 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 14
      Genomic 1
      cDNA 11
      Primer pair 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-10080, MGD-MRK-10086
    References
    more
    • Summaries
      All 82
      Developmental Gene Expression 10
      Diseases 1
      Gene Ontology 8
      Phenotypes 30
    • Earliest
      J:11099 Hsieh CL, et al., Distribution of genes for gap junction membrane channel proteins on human and mouse chromosomes. Somat Cell Mol Genet. 1991 Mar;17(2):191-200
    • Latest
      J:356338 Pineros J, et al., Connexins 30 and 43 expression changes in relation to age-related hearing loss. Hear Res. 2024 Mar 15;444:108971
    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
    11/19/2024
    MGI 6.24     		The Jackson Laboratory