COMP

Chr 19p13.11

cartilage oligomeric matrix protein

Aliases:: MED, THBS5, TSP5, TSP-5
MANE:: ENST00000222271.7

OMIM: 600310 ↗NCBI: 1311 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

COMP · P49747

v62025-08-01

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

Mean pLDDT

88.1/ 100

Confident

757 residues

Confidence breakdown

Very high(≥ 90)67%
Confident(70–90)24%
Low(50–70)3%
Very low(< 50)7%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Multiple Epiphyseal Dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Osteogenesis imperfecta

Disease associations (Open Targets)

multiple epiphyseal dysplasia type 1
0.83
pseudoachondroplasia
0.83
carpal tunnel syndrome
0.56
COMP-related skeletal dysplasia
0.46
neurodegenerative disease
0.44
multiple epiphyseal dysplasia, Beighton type
0.37
Alzheimer disease
0.35
Abnormality of the skeletal system
0.34
Parkinson disease
0.33
lysosomal storage disease
0.33

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

Protein function (UniProt)

Cartilage oligomeric matrix protein

Plays a role in the structural integrity of cartilage via its interaction with other extracellular matrix proteins such as the collagens and fibronectin. Can mediate the interaction of chondrocytes with the cartilage extracellular matrix through interaction with cell surface integrin receptors (PubMed:16051604, PubMed:16542502). Could play a role in the pathogenesis of osteoarthritis (PubMed:16542502). Potent suppressor of apoptosis in both primary chondrocytes and transformed cells. Suppresses apoptosis by blocking the activation of caspase-3 and by inducing the IAP family of survival proteins (BIRC3, BIRC2, BIRC5 and XIAP) (PubMed:17993464). Essential for maintaining a vascular smooth muscle cells (VSMCs) contractile/differentiated phenotype under physiological and pathological stimuli. Maintains this phenotype of VSMCs by interacting with ITGA7 (By similarity)