COL5A2 Gene Summary [Human]
This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | COL5A2 |
| Official Name | collagen type V alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2210] |
| Ensembl ID | ENSG00000204262 |
| Bio databases IDs | |
| Aliases | collagen type V alpha 2 chain, AB collagen |
| Synonyms | 1110014L14RIK, collagen, type V, alpha 2, collagen type V alpha 2 chain, collagen, type V, α 2, collagen type V α 2 chain, EDSC, EDSCL2, LOC101927252, PROCOLLAGEN type V alpha2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human COL5A2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- SMAD binding
- von Willebrand factor type C domain
- Fibrillar collagen C-terminal domain
- extracellular matrix structural constituent
- Collagen triple helix repeat (20 copies)
Pathways
Biological processes and signaling networks where the COL5A2 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- congestion
- epithelial cancer
- organismal death
- classic Ehlers-Danlos syndrome
- Dupuytren contracture
- Peyronie disease
- Ehlers-Danlos syndrome type II
- mixed neoplasia
- Parkinson disease
- anaplastic thyroid carcinoma
role in cell
- differentiation
- abnormal morphology
- organization
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- endoplasmic reticulum lumen
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human COL5A2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cellular response to amino acid stimulus
- skeletal system development
- eye morphogenesis
- ossification
- extracellular matrix organization
- collagen fibril organization
- skin development
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum lumen
- extracellular space
- collagen type XI
- extracellular matrix
- extracellular region
- collagen type V
Molecular Function
What the gene product does at the molecular level
- SMAD binding
- metal ion binding
- extracellular matrix structural constituent conferring tensile strength