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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
  • Gene Overview
    MyGene.info: GJA3
Location & Maps
more
  • Sequence Map
    Chr14:57035608-57058030 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      22423 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 14, 29.82 cM
  • Mapping Data
    4 experiments
Homology
more
  • Human Ortholog
    GJA3, gap junction protein alpha 3
  • Vertebrate Orthologs
    10
  • Human Ortholog
    GJA3, gap junction protein alpha 3
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CTRCT14, CX46, CZP3
  • Links
    NCBI Gene ID: 2700
    neXtProt AC: NX_Q9Y6H8

  • Chr Location
    13q12.11; chr13:20138255-20161385 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 9670
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  • HCOP
    human homology predictions: GJA3
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Gja3 mouse models; 1 with human GJA3 associations

Human Disease Mouse Models
       Cataract 14, Multiple Types; CTRCT14   OMIM: 601885 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
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  • Phenotype Summary
    3 phenotypes from 1 allele in 1 genetic background
    4 phenotypes from multigenic genotypes
    1 images
    23 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.
  • All Mutations and Alleles
    6
  • Chemically induced (other)
    1
  • Gene trapped
    1
  • Targeted
    4
  • Genomic Mutations
    1 involving Gja3
  • Incidental Mutations
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
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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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
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
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000048582 Ensembl Gene Model | MGI Sequence Detail 22423 C57BL/6J ±  kb
transcript ENSMUST00000061614 Ensembl | MGI Sequence Detail 1548 Not Applicable  
polypeptide ENSMUSP00000059587 Ensembl | MGI Sequence Detail 417 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    105 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 12
    Genomic 1
    cDNA 10
    Primer pair 1

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-10080, MGD-MRK-10086
References
more
  • Summaries
    All 62
    Developmental Gene Expression 8
    Diseases 1
    Gene Ontology 5
    Phenotypes 23
  • 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:227142 Pelletier RM, et al., Complementary expression and phosphorylation of Cx46 and Cx50 during development and following gene deletion in mouse and in normal and orchitic mink testes. Am J Physiol Regul Integr Comp Physiol. 2015 Aug 1;309(3):R255-76

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/27/2016
MGI 6.05
The Jackson Laboratory