GJA8 (gap junction protein alpha 8)

2014-11-01  

Identity

HGNC
LOCATION
1q21.2
LOCUSID
ALIAS
CAE,CAE1,CTRCT1,CX50,CZP1,MP70

Other Information

Locus ID:

NCBI: 2703
MIM: 600897
HGNC: 4281
Ensembl: ENSG00000121634

Variants:

dbSNP: 2703
ClinVar: 2703
TCGA: ENSG00000121634
COSMIC: GJA8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000121634ENST00000369235P48165
ENSG00000121634ENST00000369235X5D7G1

Expression (GTEx)

0
5
10
15

Pathways

PathwaySourceExternal ID
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Gap junction trafficking and regulationREACTOMER-HSA-157858
Gap junction traffickingREACTOMER-HSA-190828
Gap junction assemblyREACTOMER-HSA-190861

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
177241702007Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.64
213783092011Autophagy: a pathway that contributes to connexin degradation.50
163970662006A novel GJA8 mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataract.45
196840002009A mutant connexin50 with enhanced hemichannel function leads to cell death.45
176019312007Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract.44
166040582006Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea.37
180066722008A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts.37
119440872002Functional role of the carboxyl terminal domain of human connexin 50 in gap junctional channels.30
212283182011Different consequences of cataract-associated mutations at adjacent positions in the first extracellular boundary of connexin50.22
242813662014Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.22

Citation

Dessen P

GJA8 (gap junction protein alpha 8)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63795/gja8