COL5A2

Chr 2q32.2

collagen type V alpha 2 chain

MANE:: ENST00000374866.9

OMIM: 120190 ↗NCBI: 1290 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

COL5A2 · P05997

v62025-08-01

Predicted Aligned Error matrix for COL5A2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

52.0/ 100

Low

1,499 residues

Confidence breakdown

Very high(≥ 90)14%
Confident(70–90)5%
Low(50–70)12%
Very low(< 50)69%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Ehlers Danlos syndrome with a likely monogenic cause
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Inherited bleeding disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Thoracic aortic aneurysm or dissection
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection (GMS)
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and platelet disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare genetic inflammatory skin disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

Ehlers-Danlos syndrome, classic type
0.75
Ehlers-Danlos syndrome, classic type, 2
0.74
Ehlers-Danlos syndrome, classic type, 1
0.67
Ehlers-Danlos syndrome type 1
0.64
Dupuytren Contracture
0.59
Abnormality of the skeletal system
0.48
multisystemic smooth muscle dysfunction syndrome
0.46
Skin ulcer
0.46
Ehlers-Danlos syndrome
0.46
osteoarthritis, hip
0.45

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Collagen alpha-2(V) chain

Type V collagen is a member of group I collagen (fibrillar forming collagen). It is a minor connective tissue component of nearly ubiquitous distribution. Type V collagen binds to DNA, heparan sulfate, thrombospondin, heparin, and insulin. Type V collagen is a key determinant in the assembly of tissue-specific matrices (By similarity)