InnateDB Protein
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IDBP-96302.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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COL8A2
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Protein Name
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collagen, type VIII, alpha 2
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Synonyms
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FECD; FECD1; PPCD; PPCD2;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000305913
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InnateDB Gene
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IDBG-96300 (COL8A2)
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Protein Structure
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Function |
Macromolecular component of the subendothelium. Major component of the Descemet's membrane (basement membrane) of corneal endothelial cells. Also 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}.
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Subcellular Localization |
Secreted, extracellular space, extracellular matrix, basement membrane.
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Disease Associations |
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:0000269PubMed:11689488}. Note=The disease is caused by mutations affecting the gene represented in this entry.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:0000269PubMed:11689488}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Expressed primarily in the subendothelium of large blood vessels. Also expressed in arterioles and venules in muscle, heart, kidney, spleen, umbilical cord, liver and lung and is also found in connective tissue layers around hair follicles, around nerve bundles in muscle, in the dura of the optic nerve, in cornea and sclera, and in the perichondrium of cartilaginous tissues. In the kidney, expressed in mesangial cells, glomerular endothelial cells, and tubular epithelial cells. Also expressed in mast cells, and in astrocytes during the repair process. Expressed in Descemet's membrane. {ECO:0000269PubMed:10686422, ECO:0000269PubMed:17888087}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
1
[view]
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Protein-Protein |
1
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001073
Complement C1q protein
IPR008160
Collagen triple helix repeat
IPR008983
Tumour necrosis factor-like domain
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PFAM |
PF00386
PF01391
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PRINTS |
PR00007
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PIRSF |
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SMART |
SM00110
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TIGRFAMs |
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Modification |
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SwissProt |
P25067
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PhosphoSite |
PhosphoSite-P25067
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TrEMBL |
R9UH34
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UniProt Splice Variant |
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Entrez Gene |
1296
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UniGene |
Hs.353001
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RefSeq |
NP_005193
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HUGO |
HGNC:2216
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OMIM |
120252
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CCDS |
CCDS403
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HPRD |
08347
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IMGT |
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EMBL |
AK074129
AL138787
BC096295
CH471059
KC130911
KC130912
KC130914
KC130915
KC130917
M60832
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GenPept |
AAA62822
AAH96295
AGN55423
AGN55424
AGN55426
AGN55427
AGN55429
BAB84955
CAI22267
EAX07388
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