COMP Gene (Cartilage Oligomeric Matrix Protein)
COMP gene structure, function, mutations, and associated diseases
Gene Information Card
| Symbol | COMP |
|---|---|
| Full Name | Cartilage Oligomeric Matrix Protein |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.11 |
| NCBI Gene ID | 1311 ncbi.nlm.nih.gov/gene/1311 |
| Ensembl ID | ENSG00000105664 |
| UniProt ID | P49747 |
| OMIM ID | 600310 |
| HGNC ID | 2227 |
| Aliases | EDM1, EPD1, MED, PSACH, TSP5, THBS5 |
Description
The COMP gene encodes cartilage oligomeric matrix protein, a member of the thrombospondin family of extracellular matrix proteins. It is primarily expressed in cartilage, tendon, and ligament, where it plays a critical role in the structural integrity of the extracellular matrix by mediating cell-matrix interactions and collagen fibrillogenesis. Mutations in COMP cause skeletal dysplasias such as pseudoachondroplasia and multiple epiphyseal dysplasia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pseudoachondroplasia (PSACH) | Missense or frameshift mutations in COMP lead to misfolding and retention of the mutant protein in the endoplasmic reticulum of chondrocytes, disrupting cartilage growth plate development. | OMIM #177170; multiple reports in ClinVar and literature. |
| Multiple Epiphyseal Dysplasia (MED) | Dominant-negative mutations in COMP impair extracellular matrix assembly, causing abnormal epiphyseal development and early-onset osteoarthritis. | OMIM #132400; confirmed by segregation studies and functional assays. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cartilage | High | Tissue-specific high expression |
| Tendon | Moderate | Moderate expression |
| Ligament | Moderate | Moderate expression |
| Bone | Low | Low expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Chondrocytes | High | Primary cell type expressing COMP |
| Fibroblasts | Low | Detectable but low levels |
| Osteoblasts | Low | Minimal expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045G>A (p.Asp349Asn) | Missense | Common in PSACH | Dominant-negative; protein retention in ER |
| c.1126G>A (p.Gly376Ser) | Missense | Common in MED | Impaired secretion and matrix incorporation |
| c.1417_1418del (p.Glu473fs) | Frameshift | Rare | Loss of function; severe PSACH phenotype |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations leading to haploinsufficiency are rare; most COMP mutations are dominant-negative.
Gain of Function (GOF)
Not typically described for COMP mutations.
Dominant Negative (DN)
Most missense mutations in COMP act via dominant-negative mechanism, causing misfolding and ER retention, disrupting normal extracellular matrix assembly.
View complete mutation data：
Gene Ontology (GO)
| • extracellular matrix structural constituent | • calcium ion binding |
| • cell adhesion | • collagen binding |
| • extracellular matrix organization | • cartilage development |
Pathways
• ECM-receptor interaction (KEGG: hsa04512)
• Protein processing in endoplasmic reticulum (KEGG: hsa04141)
• Focal adhesion (KEGG: hsa04510)
Protein Summary
Cartilage oligomeric matrix protein (COMP) is a 757-amino-acid glycoprotein that forms pentamers. It contains an N-terminal coiled-coil domain, four type 2 (EGF-like) repeats, eight type 3 (calcium-binding) repeats, and a C-terminal globular domain. COMP binds to collagens I, II, and IX, as well as fibronectin and other matrix components, stabilizing the extracellular matrix. Mutations cause protein misfolding and ER stress, leading to chondrocyte dysfunction and skeletal dysplasia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COMP Knockout HEK293 Cell Line | EDJ-KQ780 | Human | 1311 | Details Get a Quote |
| COMP Knockout HeLa Cell Line | EDJ-KQ52959 | Human | 1311 | Details Get a Quote |
| COMP Knockout A-549 Cell Line | EDJ-KQ61426 | Human | 1311 | Details Get a Quote |
| COMP Knockout HCT 116 Cell Line | EDJ-KQ69923 | Human | 1311 | Details Get a Quote |
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