GJA8

Gap junction alpha-8 protein is a protein that in humans is encoded by the GJA8 gene.^[5][6][7] It is also known as connexin 50.

GJA8
Identifiers
Aliases	GJA8, CAE, CAE1, CTRCT1, CX50, CZP1, MP70, gap junction protein alpha 8
External IDs	OMIM: 600897; MGI: 99953; HomoloGene: 3857; GeneCards: GJA8; OMA:GJA8 - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1q21.2 Start 147,902,795 bp[1] End 147,909,269 bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3 F2.1|3 Start 96,820,882 bp[2] End 96,833,336 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in left testis right testis muscle tissue kidney human kidney connective tissue smooth muscle tissue adipose tissue right lobe of liver viscus Top expressed in lens epithelium of lens neural layer of retina tail of embryo sternocleidomastoid muscle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function channel activity gap junction channel activity Cellular component integral component of membrane gap junction cell junction plasma membrane integral component of plasma membrane connexin complex membrane Biological process cell communication cell-cell signaling camera-type eye development lens development in camera-type eye protein homooligomerization transmembrane transport visual perception gap junction-mediated intercellular transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2703 14616 Ensembl ENSG00000121634 ENSMUSG00000049908 UniProt P48165 P28236 RefSeq (mRNA) NM_005267 NM_008123 RefSeq (protein) NP_005258 NP_032149 Location (UCSC) Chr 1: 147.9 – 147.91 Mb Chr 3: 96.82 – 96.83 Mb PubMed search [3] [4]
Wikidata
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Connexin50
Identifiers
Symbol	Connexin50
Pfam	PF03509
InterPro	IPR002266
Available protein structures: Pfam   structures / ECOD   PDB RCSB PDB; PDBe; PDBj PDBsum structure summary

Related gene problems

• 1q21.1 deletion syndrome^[8]
• 1q21.1 duplication syndrome^[8]
• microphthalmia^[9] and other vision pathologies

Interactions

GJA8 has been shown to interact with Tight junction protein 1.^[10]