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 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 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, CX50, CZP1, MP70
Human Chr (Location)		1q21.1; chr1:147374946-147381396 (+)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human GJA8

Alleles and phenotypes

All alleles(10) : Targeted(6) Spontaneous(1) Chemically induced(3)
 

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(2)    Phenotype Images(2)

Gene Ontology (GO) classifications

All GO classifications: (9 annotations)

Process	camera-type eye development, cell communication, ...
Component	cell junction, connexon complex, ...

External Resources: FuncBase

Expression

Literature Summary: (8 records)
Data Summary: Results (7)    Tissues (3)    Images (1)
Theiler Stages: 23, 25

Assay Type	Results
RNA in situ	1
RT-PCR	6

cDNA source data(5)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(11) Genomic(3) cDNA(5) Primer pair(3)
Microarray probesets(3)

Other database links

Ensembl Gene Model	ENSMUSG00000049908 (Evidence)
Entrez Gene	14616 (Evidence)
DFCI	TC1613426, TC1619374, TC1759415
DoTS	DT.101724961, DT.91322060, DT.94274768
NIA Mouse Gene Index	U024397
Consensus CDS Project	CCDS17651.1
International Mouse Knockout Project Status	Gja8

Sequences

Length	Strain/Species
genomic	14616	NCBI Gene Model | MGI Sequence Detail	6909	C57BL/6J
transcript	NM_008123	RefSeq | MGI Sequence Detail	6989	Not Specified
polypeptide	P28236	UniProt | EBI | MGI Sequence Detail	440	Not Applicable

All sequences(24) RefSeq(2) UniProt(2)

Polymorphisms

All PCR and RFLP(2) : PCR(1) RFLP(1) SNPs(56 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:171557 Ebihara L, et al., Properties of connexin 46 hemichannels in dissociated lens fiber cells. Invest Ophthalmol Vis Sci. 2011 Feb;52(2):882-9
All references(73)

Other accession IDs

MGD-MRK-11851, MGD-MRK-16756, MGI:96803