Homo sapiens Gene: COL8A2
Summary
InnateDB Gene IDBG-96300.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol COL8A2
Gene Name collagen, type VIII, alpha 2
Synonyms FECD; FECD1; PPCD; PPCD2;
Species Homo sapiens
Ensembl Gene ENSG00000171812
Encoded Proteins
collagen, type VIII, alpha 2
collagen, type VIII, alpha 2
collagen, type VIII, alpha 2
collagen, type VIII, alpha 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes the alpha 2 chain of type VIII collagen. The 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 Fuchs endothelial corneal dystrophy and posterior polymorphous corneal dystrophy type 2. [provided by RefSeq, Dec 2009]
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 Fuchs endothelial corneal dystrophy and posterior polymorphous corneal dystrophy type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:36095236-36125220
Strand Reverse strand
Band p34.3
Transcripts
ENST00000303143 ENSP00000305913
ENST00000397799 ENSP00000380901
ENST00000481785 ENSP00000436433
ENST00000615990 ENSP00000484406
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005201 extracellular matrix structural constituent
GO:0005515 protein binding
GO:0030674 protein binding, bridging
Biological Process
GO:0001525 angiogenesis
GO:0016337 single organismal cell-cell adhesion
GO:0022617 extracellular matrix disassembly
GO:0030198 extracellular matrix organization
GO:0030574 collagen catabolic process
GO:0048593 camera-type eye morphogenesis
GO:0050673 epithelial cell proliferation
Cellular Component
GO:0005576 extracellular region
GO:0005578 proteinaceous extracellular matrix
GO:0005581 collagen trimer
GO:0005604 basement membrane
GO:0005788 endoplasmic reticulum lumen
GO:0031012 extracellular matrix
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Collagen biosynthesis and modifying enzymes pathway
Extracellular matrix organization pathway
Degradation of the extracellular matrix pathway
Integrin cell surface interactions pathway
Assembly of collagen fibrils and other multimeric structures pathway
Collagen degradation pathway
Collagen formation pathway
KEGG
INOH
Integrin signaling pathway pathway
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene
RefSeq NM_001294347 NM_005202 XM_005270477 XM_005270479
HUGO
OMIM
CCDS CCDS403 CCDS72756
HPRD
IMGT
EMBL
GenPept
RNA Seq Atlas