COL5A2
Collagen Type V Alpha 2 Chain
Gene Information Card
| Symbol | COL5A2 |
|---|---|
| Full Name | Collagen Type V Alpha 2 Chain |
| Gene Type | Protein coding |
| Chromosomal Location | 2q32.2 |
| NCBI Gene ID | 1290 ncbi.nlm.nih.gov/gene/1290 |
| Ensembl ID | ENSG00000134871 |
| UniProt ID | P05997 |
| OMIM ID | 120190 |
| HGNC ID | 2200 |
| Aliases | EDSC, EDSCL1, MGC131718 |
Description
COL5A2 (Collagen Type V Alpha 2 Chain) is a protein-coding gene located on chromosome 2q32.2. It encodes the alpha-2 chain of type V collagen, a fibrillar collagen that forms heterotrimers with alpha-1 chains. Type V collagen regulates fibril diameter and is essential for connective tissue integrity. Mutations in COL5A2 are associated with Ehlers-Danlos syndrome classic type (EDSC).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ehlers-Danlos syndrome classic type | Loss-of-function mutations reduce collagen V heterotrimer formation, weakening connective tissue | ClinVar, OMIM |
| Ehlers-Danlos syndrome arthrochalasia type | Structural defects in collagen V disrupt fibril assembly | ClinVar |
| Osteogenesis imperfecta | Rare missense variants may alter collagen triple helix stability | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Artery | 10.3 | Medium |
| Lung | 9.8 | Medium |
| Heart | 8.1 | Medium |
| Skeletal muscle | 6.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Fibroblast | 15.2 | High expression |
| Smooth muscle cells | 11.0 | Medium expression |
| Endothelial cells | 7.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1663G>A (p.Gly555Ser) | Missense | Rare | Disrupts triple helix stability; associated with EDS |
| c.1837C>T (p.Arg613*) | Nonsense | Rare | Premature stop; loss of function; EDS classic type |
| c.970_971delAG | Frameshift | Rare | Frameshift; loss of function; EDS classic type |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations cause haploinsufficiency, reducing collagen V production.
Gain of Function (GOF)
Not reported for COL5A2.
Dominant Negative (DN)
Missense mutations in the triple helix domain can interfere with normal collagen V assembly.
View complete mutation data：
Gene Ontology (GO)
| • extracellular matrix structural constituent | • collagen binding |
| • integrin binding | • extracellular matrix organization |
| • collagen fibril organization | • cell adhesion |
Pathways
• Collagen biosynthesis and modifying enzymes
• ECM-receptor interaction
• Focal adhesion
• PI3K-Akt signaling pathway
Protein Summary
The COL5A2 protein (UniProt P05997) is the alpha-2 chain of type V collagen. It contains a triple-helical collagen domain and a C-terminal propeptide. The protein forms heterotrimers with COL5A1 chains, contributing to fibrillar collagen networks. It is highly expressed in connective tissues and plays a critical role in regulating fibril diameter and tissue strength.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COL5A2 Knockout HEK293 Cell Line | EDJ-KQ2025 | Human | 1290 | Details Get a Quote |
| COL5A2 Knockout A-549 Cell Line | EDJ-KQ22058 | Human | 1290 | Details Get a Quote |
| COL5A2 Knockout HCT 116 Cell Line | EDJ-KQ22059 | Human | 1290 | Details Get a Quote |
| COL5A2 Knockout HeLa Cell Line | EDJ-KQ52949 | Human | 1290 | Details Get a Quote |
