COL8A2
entrez
1296
canonical
uniprot
P25067
canonical
ensembl
ENSG00000171812
resolver
ensp
ENSP00000305913
resolver
ensp
ENSP00000380901
resolver
ensp
ENSP00000436433
resolver
enst
ENST00000303143
resolver
enst
ENST00000397799
resolver
enst
ENST00000481785
resolver
genesymbol
COL8A2
resolver
hgnc
HGNC:2216
resolver
uniprot
E9PP49
resolver
uniprot
Q5JV31
resolver
uniprot
Q8TEJ5
resolver
uniprot_entry
CO8A2_HUMAN
resolver
uniprot_entry
E9PP49_HUMAN
resolver
uniprot_sec
Q5JV31
resolver
uniprot_sec
Q8TEJ5
resolver
amino_acid_sequence
MLGTLTPLSSLLLLLLVLVLGCGPRASSGGGAGGAAGYAPVKYIQPMQKGPVGPPFREGKGQYLEMPLPLLPMDLKGEPGPPGKPGPRGPPGPPGFPGKPGMGKPGLHGQPGPAGPPGFSRMGKAGPPGLPGKVGPPGQPGLRGEPGIRGDQGLRGPPGPPGLPGPSGITIPGKPGAQGVPGPPGFQGEPGPQGEPGPPGDRGLKGDNGVGQPGLPGAPGQGGAPGPPGLPGPAGLGKPGLDGLPGAPGDKGESGPPGVPGPRGEPGAVGPKGPPGVDGVGVPGAAGLPGPQGPSGAKGEPGTRGPPGLIGPTGYGMPGLPGPKGDRGPAGVPGLLGDRGEPGEDGEPGEQGPQGLGGPPGLPGSAGLPGRRGPPGPKGEAGPGGPPGVPGIRGDQGPSGLAGKPGVPGERGLPGAHGPPGPTGPKGEPGFTGRPGGPGVAGALGQKGDLGLPGQPGLRGPSGIPGLQGPAGPIGPQGLPGLKGEPGLPGPPGEGRAGEPGTAGPTGPPGVPGSPGITGPPGPPGPPGPPGAPGAFDETGIAGLHLPNGGVEGAVLGKGGKPQFGLGELSAHATPAFTAVLTSPFPASGMPVKFDRTLYNGHSGYNPATGIFTCPVGGVYYFAYHVHVKGTNVWVALYKNNVPATYTYDEYKKGYLDQASGGAVLQLRPNDQVWVQMPSDQANGLYSTEYIHSSFSGFLLCPT
uniprot
proteins
disease_involvement
DISEASE: Corneal dystrophy, Fuchs endothelial, 1 (FECD1) [MIM:136800]: A corneal disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition. {ECO:0000269|PubMed:11689488}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Corneal dystrophy, posterior polymorphous, 2 (PPCD2) [MIM:609140]: A rare mild subtype of posterior corneal dystrophy characterized by alterations of Descemet membrane presenting as vesicles, opacities or band-like lesions on slit-lamp examination and specular microscopy. Affected patient typically are asymptomatic. {ECO:0000269|PubMed:11689488}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Macromolecular component of the subendothelium. Major component of the Descemet's membrane (basement membrane) of corneal endothelial cells. Also a component of the endothelia of blood vessels. Necessary for migration and proliferation of vascular smooth muscle cells and thus, has a potential role in the maintenance of vessel wall integrity and structure, in particular in atherogenesis (By similarity). {ECO:0000250}.
uniprot
proteins
mass_dalton
67244
uniprot
proteins
post_translational_modification
PTM: Proteolytically cleaved by neutrophil elastase, in vitro. {ECO:0000269|PubMed:1515454}.; PTM: Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
uniprot
proteins
pubmed
10686422
uniprot
proteins
pubmed
11689488
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14990571
uniprot
proteins
pubmed
1515454
uniprot
proteins
pubmed
15175909
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17888087
uniprot
proteins
pubmed
2019595
uniprot
proteins
sequence_length
703
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix, basement membrane.
uniprot
proteins