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Gja8
Gene Detail
 Symbol
Name
ID
Gja8
gap junction protein, alpha 8
MGI:99953
Synonyms Aey5, alpha 8 connexin, Cnx50, connexin 50, Cx50, Lop10
Feature Type protein coding gene
Genetic Map
Chromosome 3
42.03 cM
Detailed Genetic Map ± 1 cM


Mapping data(13)
Sequence Map
Chr3:96919022-96925930 bp, - strand
From NCBI annotation of GRCm38

  6909 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:3857  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: Gja8

Human
homologs
Human Homolog GJA8, gap junction protein, alpha 8, 50kDa
NCBI Gene ID 2703
neXtProt AC  NX_P48165
Human Synonyms  CAE, CAE1, CTRCT1, CX50, CZP1, MP70
Human Chr (Location)  1q21.1; chr1:147902820-147909269 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human GJA8
Mutations,
alleles, and
phenotypes
All mutations/alleles(12) : Chemically induced (ENU)(3) Spontaneous(2) Targeted(7)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous mutants exhibit microphthalmia, with small lenses and nuclear or total cataracts. Heterozygotes may be equally or less affected, depending on the particular mutation and the genetic background.
 
Human Diseases Modeled Using Mouse Gja8 (1)    Alleles Annotated to Human Diseases(3)    Phenotype Images(5)
Interactions
Gja8 interacts with 23 markers (Mir33, Mir96, Mir122, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (13 annotations)
Process camera-type eye development, cell-cell signaling, ...
Component cell junction, connexon complex, ...
Function gap junction channel activity
External Resources: FuncBase
Expression
Literature Summary: (8 records)
Data Summary: Results (7)    Tissues (3)    Images (1)
Theiler Stages: 23, 25
Assay TypeResults
RNA in situ 1
RT-PCR 6
cDNA source data(5)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(11) Genomic(3) cDNA(5) Primer pair(3)
Microarray probesets(3)
Other database
links
Ensembl Gene ModelENSMUSG00000049908 (Evidence)
Entrez Gene14616 (Evidence)
DFCITC1613426, TC1619374, TC1759415
DoTSDT.101724961, DT.91322060, DT.94274768
NIA Mouse Gene IndexU024397
Consensus CDS ProjectCCDS17651.1
International Mouse Knockout Project StatusGja8
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 14616 NCBI Gene Model | MGI Sequence Detail 6909 C57BL/6J ±  kb
transcript NM_008123 RefSeq | MGI Sequence Detail 6989 Not Specified 
polypeptide P28236 UniProt | EBI | MGI Sequence Detail 440 Not Applicable 

For the selected sequences
All sequences(24) RefSeq(2) UniProt(2)
Polymorphisms All PCR and RFLP(2) : PCR(1) RFLP(1) SNPs within 2kb(66 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR000500 Connexin
InterPro IPR017990 Connexin, conserved site
InterPro IPR013092 Connexin, N-terminal
InterPro IPR002266 Gap junction alpha-8 protein (Cx50)
InterPro IPR019570 Gap junction protein, cysteine-rich domain
Protein Ontology PR:000007995 gap junction alpha-8 protein
Graphical View of Protein Domain Structure
References (Earliest) J:21950 Favor J, A comparison of the dominant cataract and recessive specific-locus mutation rates induced by treatment of male mice with ethylnitrosourea. Mutat Res. 1983 Aug;110(2):367-82
(Latest) J:210899 Ebihara L, et al., Cx46 hemichannels contribute to the sodium leak conductance in lens fiber cells. Am J Physiol Cell Physiol. 2014 Mar 1;306(5):C506-13
All references(79)
Disease annotation references (3)
Other
accession IDs
MGD-MRK-11851, MGD-MRK-16756, MGI:96803

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
09/23/2014
MGI 5.19
The Jackson Laboratory