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Gja3
Gene Detail
 Symbol
Name
ID
Gja3
gap junction protein, alpha 3
MGI:95714
Synonyms alpha 3 connexin, connexin 46, Cx46, Gja-3
Feature Type protein coding gene
Genetic Map
Chromosome 14
29.82 cM
Detailed Genetic Map ± 1 cM


Mapping data(4)
Sequence Map
Chr14:57035660-57057945 bp, - strand
From NCBI annotation of GRCm38

  22286 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:9670  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Gja3

Human
homologs
Human Homolog GJA3, gap junction protein, alpha 3, 46kDa
NCBI Gene ID 2700
neXtProt AC  NX_Q9Y6H8
Human Synonyms  CTRCT14, CX46, CZP3
Human Chr (Location)  13q12.11; chr13:20138255-20161385 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human GJA3
Mutations,
alleles, and
phenotypes
All mutations/alleles(4) : Gene trapped(1) Targeted(3)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous mutants exhibit lens nuclear cataracts associated with breakdown of gamma crystallin. Severity of the defect is influenced by genetic background.
 
Phenotype Images(1)
Interactions
Gja3 interacts with 6 markers (Mir466i, Mir466k, Mir466l, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (15 annotations)
Process cell communication, response to hydrogen peroxide, ...
Component cell junction, connexon complex, ...
Function gap junction channel activity, identical protein binding
External Resources: FuncBase
Expression
Literature Summary: (8 records)
Data Summary: Results (43)    Tissues (38)    Images (4)
Theiler Stages: 23, 25, 26, 28
Assay TypeResults
RNA in situ 37
RT-PCR 6
cDNA source data(8)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(12) Genomic(1) cDNA(10) Primer pair(1)
Microarray probesets(3)
Other database
links
Ensembl Gene ModelENSMUSG00000048582 (Evidence)
Entrez Gene14611 (Evidence)
UniGene57207
DFCITC1656548, TC1713788
DoTSDT.101709667, DT.91379163
NIA Mouse Gene IndexU035619
Consensus CDS ProjectCCDS27152.1
International Mouse Knockout Project StatusGja3
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 14611 NCBI Gene Model | MGI Sequence Detail 22286 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 sequences
All sequences(29) RefSeq(6) UniProt(4)
Polymorphisms RFLP(1) : SNPs within 2kb(105 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR000500 Connexin
InterPro IPR017990 Connexin, conserved site
InterPro IPR013092 Connexin, N-terminal
InterPro IPR002262 Gap junction alpha-3 protein (Cx46)
InterPro IPR019570 Gap junction protein, cysteine-rich domain
Protein Ontology PR:000007992 gap junction alpha-3 protein
Graphical View of Protein Domain Structure
References (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:195727 Xia CH, et al., Cataracts and microphthalmia caused by a Gja8 mutation in extracellular loop 2. PLoS One. 2012;7(12):e52894
All references(64)
Other
accession IDs
MGD-MRK-10080, MGD-MRK-10086

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/26/2014
MGI 5.19
The Jackson Laboratory