Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
1296
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Collagen type VIII alpha 2 chain |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
COL8A2 |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
FECD, FECD1, PPCD, PPCD2 |
Disease Acronyms (UniProt)
Disease acronyms from UniProt database
|
FECD1, PPCD2 |
Chromosome
Chromosome number
|
1 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
1p34.3 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
This gene encodes the alpha 2 chain of type VIII collagen. This protein is a major component of the basement membrane of the corneal endothelium and forms homo- or heterotrimers with alpha 1 (VIII) type collagens. Defects in this gene are associated with |
UniProt ID |
P25067
|
Protein name |
Collagen alpha-2(VIII) chain (Endothelial collagen) |
Protein 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 vascul |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF01391
|
Collagen |
120 → 172 |
Collagen triple helix repeat (20 copies) |
Repeat |
PF00386
|
C1q |
576 → 700 |
C1q domain |
Domain |
|
Tissue specificity |
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 folli |
Sequence |
|
Sequence length |
703 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Corneal dystrophy |
Corneal dystrophy, Corneal dystrophy, Fuchs` endothelial, 1, CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2 |
rs121909212, rs121909214, rs760714959, rs766305306, rs1554579819, rs1554579832, rs1554579878 |
11689488, 18464802 |
Polymorphous corneal dystrophy |
Polymorphous corneal dystrophy, Posterior polymorphous corneal dystrophy |
rs1592143384, rs2139794959, rs869320627, rs869320628, rs869320629, rs869320630 |
11689488 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Corneal Dystrophy |
Fuchs' endothelial dystrophy, corneal dystrophy, Fuchs endothelial, 1 |
|
|
GenCC |
Alzheimer disease |
Alzheimer disease |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Atrial Fibrillation |
Stimulate
|
34332113 |
Carcinoma Hepatocellular |
Associate
|
23298258 |
Connective Tissue Diseases |
Associate
|
23608731 |
Corneal dystrophy epithelial basement membrane |
Associate
|
19710953 |
Corneal Dystrophy Posterior Polymorphous 1 |
Associate
|
16252232, 19997581, 20567203 |
Eosinophilic Esophagitis |
Associate
|
23608731 |
Fuchs' Endothelial Dystrophy |
Associate
|
17471329, 18502986, 20144242, 23110055, 24348007, 25548511, 27121161, 28384203, 28726551, 31028223 |
Glaucoma Open Angle |
Associate
|
25669751 |
Lymphoma |
Associate
|
34166375 |
Myocardial Infarction |
Associate
|
33054494 |
Neoplasms |
Associate
|
32687633 |
Osteoarthritis |
Associate
|
20060954 |
|