COL5A3
Collagen Type V Alpha 3 Chain
Gene Information Card
| Symbol | COL5A3 |
|---|---|
| Full Name | Collagen Type V Alpha 3 Chain |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.2 |
| NCBI Gene ID | 50509 ncbi.nlm.nih.gov/gene/50509 |
| Ensembl ID | ENSG00000180537 |
| UniProt ID | P25940 |
| OMIM ID | 120216 |
| HGNC ID | 2200 |
| Aliases | COL5A3, collagen alpha-3(V) chain |
Description
COL5A3 is a protein-coding gene that encodes the alpha-3 chain of type V collagen, a minor fibrillar collagen that co-assembles with type I collagen to regulate fibril diameter and organization in connective tissues. It is expressed in various tissues including skin, tendon, bone, and cornea. Mutations in COL5A3 are associated with Ehlers-Danlos syndrome, particularly the classic type, characterized by skin hyperextensibility, joint hypermobility, and tissue fragility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ehlers-Danlos syndrome, classic type | Defective collagen V leads to abnormal fibrillogenesis and weakened extracellular matrix | ClinVar, OMIM |
| Ehlers-Danlos syndrome, hypermobility type | Missense variants may disrupt collagen assembly | ClinVar |
| Osteogenesis imperfecta | Rare association with collagen V defects | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Tendon | 8.3 | Low |
| Bone | 6.1 | Low |
| Cornea | 15.2 | Medium |
| Lung | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Fibroblast | 18.9 | Primary dermal fibroblasts |
| Osteoblast | 7.2 | hFOB 1.19 |
| Chondrocyte | 5.4 | C28/I2 |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1637G>A (p.Gly546Asp) | Missense | Rare | Dominant-negative effect on collagen V triple helix |
| c.2092C>T (p.Arg698Trp) | Missense | Rare | Alters protein stability |
| c.1A>G (p.Met1?) | Start loss | Very rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Start loss and nonsense mutations reduce or abolish COL5A3 protein production, leading to haploinsufficiency.
Gain of Function (GOF)
Not reported for COL5A3.
Dominant Negative (DN)
Missense mutations in the triple-helix domain (e.g., Gly substitutions) disrupt collagen folding and secretion, interfering with wild-type chains.
View complete mutation data：
Gene Ontology (GO)
| • extracellular matrix structural constituent | • collagen binding |
| • extracellular matrix organization | • collagen fibril organization |
| • protein heterotrimerization |
Pathways
• Collagen biosynthesis and modifying enzymes
• ECM-receptor interaction
• Focal adhesion
Protein Summary
The COL5A3 protein (collagen alpha-3(V) chain) is a 1685-amino-acid polypeptide that forms homotrimers or heterotrimers with alpha-1(V) and alpha-2(V) chains to assemble type V collagen fibrils. It contains a central triple-helical domain with Gly-X-Y repeats, flanked by N- and C-terminal propeptides. Post-translational modifications include hydroxylation and glycosylation. The protein is secreted into the extracellular matrix where it regulates fibril diameter and tissue integrity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COL5A3 Knockout HEK293 Cell Line | EDJ-KQ10762 | Human | 50509 | Details Get a Quote |
| COL5A3 Knockout HeLa Cell Line | EDJ-KQ56168 | Human | 50509 | Details Get a Quote |
| COL5A3 Knockout A-549 Cell Line | EDJ-KQ64658 | Human | 50509 | Details Get a Quote |
| COL5A3 Knockout HCT 116 Cell Line | EDJ-KQ73107 | Human | 50509 | Details Get a Quote |
