Human Gene COL8A2 (ENST00000303143.9) from GENCODE V44
Description: 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). (from UniProt P25067) RefSeq Summary (NM_005202): 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]. Gencode Transcript: ENST00000303143.9 Gencode Gene: ENSG00000171812.13 Transcript (Including UTRs) Position: hg38 chr1:36,095,241-36,100,249 Size: 5,009 Total Exon Count: 2 Strand: - Coding Region Position: hg38 chr1:36,097,569-36,100,242 Size: 2,674 Coding Exon Count: 2
ID:CO8A2_HUMAN DESCRIPTION: RecName: Full=Collagen alpha-2(VIII) chain; AltName: Full=Endothelial collagen; Flags: Precursor; 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). SUBUNIT: Homotrimers, or heterotrimers in association with alpha 2(VIII) type collagens. Four homotrimers can form a tetrhedron stabilized by central interacting C-terminal NC1 trimers. SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix, basement membrane. 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. INDUCTION: Some up-regulation in diabetic nephropathy. PTM: Proteolytically cleaved by neutrophil elastase, in vitro. PTM: Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains. DISEASE: Defects in COL8A2 are the cause of corneal dystrophy Fuchs endothelial type 1 (FECD1) [MIM:136800]. 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. DISEASE: Defects in COL8A2 are the cause of posterior polymorphous corneal dystrophy type 2 (PPCD2) [MIM:609140]. 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. SIMILARITY: Contains 1 C1q domain. SEQUENCE CAUTION: Sequence=BAB84955.1; Type=Erroneous initiation;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P25067
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
