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GeneE
27 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
COMP
cartilage oligomeric matrix protein
Chromosome 19 Β· 19p13.11
NCBI Gene: 1311Ensembl: ENSG00000105664.12HGNC: HGNC:2227UniProt: P49747
195PubMed Papers
23Diseases
0Drugs
173Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cartilage homeostasisGO:0005615extracellular exosomecalcium ion bindingmultiple epiphyseal dysplasia type 1pseudoachondroplasiacarpal tunnel syndromeneurodegenerative disease
✦AI Summary

COMP (cartilage oligomeric matrix protein) is a pentameric extracellular matrix protein primarily found in musculoskeletal tissues that plays critical roles in cartilage structural integrity and cellular survival 1. COMP functions by binding to collagens (types II and IX) and other ECM proteins, mediating chondrocyte-matrix interactions through integrin receptors 1. The protein acts as a potent apoptosis suppressor by blocking caspase-3 activation and inducing survival proteins from the IAP family 1. COMP mutations cause pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia type 1 (MED1), resulting in disproportionate short stature, joint abnormalities, and early-onset osteoarthritis 2. These mutations interfere with calcium binding and protein conformation, leading to dominant negative effects where mutant COMP is retained in endoplasmic reticulum cisternae along with type IX collagen, impairing chondrocyte function and causing premature cell death 1. Serum COMP levels are significantly reduced in PSACH patients compared to healthy controls, serving as a potential biomarker 2. COMP degradation by ADAMTS7 promotes osteogenic differentiation through BMP2 signaling, and reduced ADAMTS7-mediated COMP cleavage contributes to osteosarcoma pathogenesis 3. Additionally, COMP shows oncogenic potential through coexpression with EMT markers and association with poor survival in colon cancer 4.

Sources cited
1
COMP is a pentameric protein that binds collagens II and IX, and mutations cause PSACH with dominant negative effects
PMID: 15094116
2
COMP mutations cause PSACH and MED1 with characteristic features and reduced serum COMP levels
PMID: 34709441
3
ADAMTS7 degrades COMP to promote osteogenic differentiation and its reduction contributes to osteosarcoma
PMID: 32692461
4
COMP coexpresses with EMT markers and associates with poor survival in colon cancer
PMID: 30502262
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜23
multiple epiphyseal dysplasia type 1Open Targets
0.83Strong
pseudoachondroplasiaOpen Targets
0.83Strong
carpal tunnel syndromeOpen Targets
0.66Moderate
neurodegenerative diseaseOpen Targets
0.44Moderate
multiple epiphyseal dysplasia, Beighton typeOpen Targets
0.37Weak
COMP-related skeletal dysplasiaOpen Targets
0.37Weak
Alzheimer diseaseOpen Targets
0.35Weak
Abnormality of the skeletal systemOpen Targets
0.34Weak
Parkinson diseaseOpen Targets
0.33Weak
lysosomal storage diseaseOpen Targets
0.33Weak
multiple sclerosisOpen Targets
0.33Weak
Digital flexor tenosynovitisOpen Targets
0.27Weak
multiple epiphyseal dysplasiaOpen Targets
0.27Weak
genetic disorderOpen Targets
0.19Weak
trauma complicationOpen Targets
0.19Weak
connective tissue diseaseOpen Targets
0.18Weak
contact dermatitisOpen Targets
0.15Weak
rheumatoid arthritisOpen Targets
0.11Weak
neoplasmOpen Targets
0.11Weak
cancerOpen Targets
0.11Weak
Carpal tunnel syndrome 2UniProt
Multiple epiphyseal dysplasia 1UniProt
PseudoachondroplasiaUniProt
Pathogenic Variants173
NM_000095.3(COMP):c.2156G>A (p.Gly719Asp)Pathogenic
Pseudoachondroplasia, severe|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome|not provided|Multiple epiphyseal dysplasia type 1
β˜…β˜…β˜†β˜†2026β†’ Residue 719
NM_000095.3(COMP):c.1405GAC[4] (p.Asp473del)Pathogenic
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome|not provided|Multiple epiphyseal dysplasia type 1
β˜…β˜…β˜†β˜†2026β†’ Residue 473
NM_000095.3(COMP):c.827C>G (p.Pro276Arg)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 276
NM_000095.3(COMP):c.1754C>T (p.Thr585Met)Pathogenic
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome|not provided|Multiple epiphyseal dysplasia|COMP-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 585
NM_000095.3(COMP):c.1405GAC[6] (p.Asp473dup)Pathogenic
Multiple epiphyseal dysplasia type 1|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome|not provided|Multiple epiphyseal dysplasia
β˜…β˜…β˜†β˜†2025β†’ Residue 473
NM_000095.3(COMP):c.895G>A (p.Gly299Arg)Pathogenic
not provided|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 299
NM_000095.3(COMP):c.1021_1026del (p.Glu341_Asp342del)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 341
NM_000095.3(COMP):c.1153G>A (p.Asp385Asn)Pathogenic
not provided|Multiple epiphyseal dysplasia type 1|Multiple epiphyseal dysplasia|Multiple epiphyseal dysplasia type 1;Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome;Carpal tunnel syndrome 2
β˜…β˜…β˜†β˜†2025β†’ Residue 385
NM_000095.3(COMP):c.976G>A (p.Asp326Asn)Pathogenic
Multiple epiphyseal dysplasia type 1|not provided|COMP-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 326
NM_000095.3(COMP):c.1317C>G (p.Asp439Glu)Pathogenic
not provided|Multiple epiphyseal dysplasia type 1
β˜…β˜…β˜†β˜†2025β†’ Residue 439
NM_000095.3(COMP):c.2155G>A (p.Gly719Ser)Pathogenic
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 719
NM_000095.3(COMP):c.1309G>A (p.Asp437Asn)Likely pathogenic
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome|not provided|Multiple epiphyseal dysplasia type 1
β˜…β˜…β˜†β˜†2025β†’ Residue 437
NM_000095.3(COMP):c.1423G>A (p.Asp475Asn)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 475
NM_000095.3(COMP):c.1201G>A (p.Asp401Asn)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 401
NM_000095.3(COMP):c.1368GGA[1] (p.Glu457del)Pathogenic
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 457
NM_000095.3(COMP):c.925G>A (p.Gly309Arg)Pathogenic
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 309
NM_000095.3(COMP):c.806A>G (p.Asp269Gly)Pathogenic
not provided|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 269
NM_000095.3(COMP):c.1569C>G (p.Asn523Lys)Pathogenic
Multiple epiphyseal dysplasia type 1|not provided|Multiple epiphyseal dysplasia
β˜…β˜…β˜†β˜†2024β†’ Residue 523
NM_000095.3(COMP):c.2152C>T (p.Arg718Trp)Pathogenic
Multiple epiphyseal dysplasia type 1|not provided|Carpal tunnel syndrome 2|Multiple epiphyseal dysplasia
β˜…β˜…β˜†β˜†2024β†’ Residue 718
NM_000095.3(COMP):c.1552G>C (p.Asp518His)Pathogenic
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 518
View on ClinVar β†—
Related Genes
FN1Protein interaction100%BGNProtein interaction99%CD47Protein interaction96%CD36Protein interaction95%ITGB3Protein interaction95%ADAMTS7Protein interaction94%
Tissue Expression6 tissues
Heart
100%
Lung
54%
Liver
3%
Ovary
2%
Brain
1%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
COMPFN1BGNCD47CD36ITGB3ADAMTS7
PROTEIN STRUCTURE
Preparing viewer…
PDB3FBY Β· 3.15 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.07LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.89 [0.74–1.07]
RankingsWhere COMP stands among ~20K protein-coding genes
  • #2,170of 20,598
    Most Researched195 Β· top quartile
  • #420of 5,498
    Most Pathogenic Variants173 Β· top 10%
  • #10,857of 17,882
    Most Constrained (LOEUF)1.07
Genes detectedCOMP
Sources retrieved27 papers
Response timeβ€”
πŸ“„ Sources
27β–Ό
1
Molecular and spatial signatures of human and rat corpus cavernosum physiopathological processes at single-cell resolution.
PMID: 39299236
Cell Rep Β· 2024
1.00
2
The Mechanism and Role of ADAMTS Protein Family in Osteoarthritis.
PMID: 35883515
Biomolecules Β· 2022
0.90
3
Comparative Proteomic Analysis of Osteoarthritis and Rheumatoid Arthritis: Identifying Potential Biomarkers.
PMID: 40426329
J Orthop Res Β· 2025
0.84
4
Clinical, Biochemical, Radiological, Genetic and Therapeutic Analysis of Patients with COMP Gene Variants.
PMID: 34709441
Calcif Tissue Int Β· 2022
0.80
5
Cartilage Oligomeric Matrix Protein, Diseases, and Therapeutic Opportunities.
PMID: 36012514
Int J Mol Sci Β· 2022
0.76