NP_001281276.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
67,244 Da
NCBI Official Full Name
collagen alpha-2(VIII) chain isoform 2
NCBI Official Synonym Full Names
collagen type VIII alpha 2 chain
NCBI Protein Information
collagen alpha-2(VIII) chain
UniProt Protein Name
Collagen alpha-2(VIII) chain
UniProt Synonym Protein Names
Endothelial collagen
NCBI Summary for COL8a2
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]
UniProt Comments for COL8a2
COL8A2: 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. Defects in COL8A2 are the cause of corneal dystrophy Fuchs endothelial type 1 (FECD1). It is an ocular disorder 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. Defects in COL8A2 are the cause of posterior polymorphous corneal dystrophy type 2 (PPCD2). PPCD is a rare bilateral familial disorder of the corneal epithelium, and is inherited in a autosomal dominant pattern. The clinical features usually present earlier than FECD, being from birth onwards. The disorder is 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.
Protein type: Extracellular matrix; Secreted; Secreted, signal peptide
Chromosomal Location of Human Ortholog: 1p34.3
Cellular Component: basement membrane; collagen; endoplasmic reticulum lumen; extracellular matrix; extracellular region; proteinaceous extracellular matrix
Molecular Function: extracellular matrix structural constituent; protein binding, bridging
Biological Process: angiogenesis; camera-type eye morphogenesis; collagen catabolic process; epithelial cell proliferation; extracellular matrix organization
Disease: Corneal Dystrophy, Fuchs Endothelial, 1; Corneal Dystrophy, Posterior Polymorphous, 2
Research Articles on COL8a2
Precautions
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Products associated with anti-COL8a2 antibody
Pathways associated with anti-COL8a2 antibody
Diseases associated with anti-COL8a2 antibody
Disease Name |
Pubmed Publications |
Disease Models, Animal Antibodies |
>8 publications with COL8a2 and Disease Models, Animal |
Corneal Dystrophy, Posterior Polymorphous, 2 Antibodies |
>6 publications with COL8a2 and Corneal Dystrophy, Posterior Polymorphous, 2 |
Edema Antibodies |
>4 publications with COL8a2 and Edema |
Kidney Diseases Antibodies |
>3 publications with COL8a2 and Kidney Diseases |
Skin Diseases Antibodies |
>2 publications with COL8a2 and Skin Diseases |
Carcinoma, Hepatocellular Antibodies |
>1 publications with COL8a2 and Carcinoma, Hepatocellular |
Heart Defects, Congenital Antibodies |
>1 publications with COL8a2 and Heart Defects, Congenital |
Corneal Dystrophy, Posterior Polymorphous, 1 Antibodies |
>1 publications with COL8a2 and Corneal Dystrophy, Posterior Polymorphous, 1 |
Organs/Tissues associated with anti-COL8a2 antibody
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