Gene
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs80358191 G>T Pathogenic Missense variant, coding sequence variant
rs80358192 A>C,G Pathogenic Missense variant, coding sequence variant
rs727504229 TG>AC Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT017982 hsa-miR-335-5p Microarray 18185580
MIRT022679 hsa-miR-124-3p Microarray 18668037
MIRT903193 hsa-miR-1263 CLIP-seq
MIRT903194 hsa-miR-1287 CLIP-seq
MIRT903195 hsa-miR-1915 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001525 Process Angiogenesis IEA
GO:0005201 Function Extracellular matrix structural constituent IBA 21873635
GO:0005201 Function Extracellular matrix structural constituent NAS 2019595
GO:0005576 Component Extracellular region TAS
GO:0005581 Component Collagen trimer IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
120252 2216 ENSG00000171812
Protein
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
MLGTLTPLSSLLLLLLVLVLGCGPRASSGGGAGGAAGYAPVKYIQPMQKGPVGPPFREGK
GQYLEMPLPLLPMDLKGEPGPPGKPGPRGPPGPPGFPGKPGMGKPGLHGQPGPAGPPGFS
RMGKAGPPGLPGKVGPPGQPGLRGEPGIRGDQGLRGPPGPPGLPGPSGITIP
GKPGAQGV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CPT
Sequence length 703
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Protein digestion and absorption   Collagen degradation
Collagen biosynthesis and modifying enzymes
Assembly of collagen fibrils and other multimeric structures
Integrin cell surface interactions
Collagen chain trimerization
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
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