COMP Chromosome 19
Cartilage oligomeric matrix protein
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What This Gene Does
The protein encoded by this gene is a noncollagenous extracellular matrix (ECM) protein. It consists of five identical glycoprotein subunits, each with EGF-like and calcium-binding (thrombospondin-like) domains. Oligomerization results from formation of a five-stranded coiled coil and disulfides. Binding to other ECM proteins such as collagen appears to depend on divalent cations. Contraction or expansion of a 5 aa aspartate repeat and other mutations can cause pseudochondroplasia (PSACH) and multiple epiphyseal dysplasia (MED). [provided by RefSeq, Jul 2016]
Gene Info
Gene Group
Thrombospondin family
Locus Type
gene with protein product
Location
19p13.11
Ensembl
ENSG00000105664
Associated Conditions (14)
Connective tissue disorder
Inborn genetic diseases
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
Multiple epiphyseal dysplasia type 1
COMP-related disorder
See cases
Carpal tunnel syndrome 2
Multiple epiphyseal dysplasia
Epiphyseal dysplasia
multiple
1
severe
Abnormality of the skeletal system
Pseudoachondroplasia
Key Variants
RS1190598083
Conflicting classifications of pathogenicity
Connective tissue disorder, Connective tissue disorder
Health Risk
RS140511415
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141708238
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143954978
Conflicting classifications of pathogenicity
Connective tissue disorder, Connective tissue disorder
Health Risk
RS1459554830
Conflicting classifications of pathogenicity
Health Risk
RS150534218
Conflicting classifications of pathogenicity
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1, Inborn genetic diseases
Health Risk
RS1601057057
Conflicting classifications of pathogenicity
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
Health Risk
RS1601057570
Conflicting classifications of pathogenicity
Multiple epiphyseal dysplasia type 1, Multiple epiphyseal dysplasia type 1
Health Risk
RS200638121
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201063220
Conflicting classifications of pathogenicity
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
Health Risk
RS2145900853
Conflicting classifications of pathogenicity
Health Risk
RS2145901300
Conflicting classifications of pathogenicity
Health Risk
All Variants (146)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2055168912 | Health Risk | Likely pathogenic | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome |
| RS2055169002 | Health Risk | Likely pathogenic | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome |
| RS2055169544 | Health Risk | Likely pathogenic | — |
| RS2145897697 | Health Risk | Likely pathogenic | Multiple epiphyseal dysplasia type 1, Multiple epiphyseal dysplasia type 1 |
| RS2145900493 | Health Risk | Likely pathogenic | — |
| RS2145900494 | Health Risk | Likely pathogenic | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome |
| RS2145900523 | Health Risk | Likely pathogenic | Multiple epiphyseal dysplasia, Multiple epiphyseal dysplasia type 1, Multiple epiphyseal dysplasia |
| RS2145900782 | Health Risk | Likely pathogenic | — |
| RS2145900800 | Health Risk | Likely pathogenic | — |
| RS2145900849 | Health Risk | Likely pathogenic | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome |
| RS2145900873 | Health Risk | Likely pathogenic | Multiple epiphyseal dysplasia type 1, Multiple epiphyseal dysplasia type 1 |
| RS2145900906 | Health Risk | Likely pathogenic | — |
| RS2145900926 | Health Risk | Likely pathogenic | — |
| RS2145901025 | Health Risk | Likely pathogenic | — |
| RS2145901035 | Health Risk | Likely pathogenic | — |
| RS2145901302 | Health Risk | Likely pathogenic | Multiple epiphyseal dysplasia type 1, Multiple epiphyseal dysplasia type 1 |
| RS2145901346 | Health Risk | Likely pathogenic | — |
| RS2145901379 | Health Risk | Likely pathogenic | — |
| RS2145902138 | Health Risk | Likely pathogenic | — |
| RS2145902154 | Health Risk | Likely pathogenic | — |
| RS2145902164 | Health Risk | Likely pathogenic | — |
| RS2145902239 | Health Risk | Likely pathogenic | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome |
| RS2145902259 | Health Risk | Likely pathogenic | — |
| RS2145902336 | Health Risk | Likely pathogenic | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome |
| RS2145903160 | Health Risk | Likely pathogenic | Multiple epiphyseal dysplasia type 1, Multiple epiphyseal dysplasia type 1 |
| RS2145903243 | Health Risk | Likely pathogenic | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome |
| RS2145903266 | Health Risk | Likely pathogenic | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome |
| RS2145903433 | Health Risk | Likely pathogenic | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome |
| RS2512847056 | Health Risk | Likely pathogenic | — |
| RS2512847519 | Health Risk | Likely pathogenic | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome |
| RS2512847579 | Health Risk | Likely pathogenic | — |
| RS2512847626 | Health Risk | Likely pathogenic | — |
| RS2512847668 | Health Risk | Likely pathogenic | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome |
| RS2512847828 | Health Risk | Likely pathogenic | Multiple epiphyseal dysplasia type 1, Multiple epiphyseal dysplasia type 1 |
| RS2512850157 | Health Risk | Likely pathogenic | — |
| RS28933699 | Health Risk | Likely pathogenic | COMP-related disorder, COMP-related disorder |
| RS28936668 | Health Risk | Likely pathogenic | Epiphyseal dysplasia, multiple, 1 |
| RS312262902 | Health Risk | Likely pathogenic | — |
| RS312262903 | Health Risk | Likely pathogenic | Multiple epiphyseal dysplasia type 1, Multiple epiphyseal dysplasia type 1 |
| RS312262904 | Health Risk | Likely pathogenic | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome |
| RS878853098 | Health Risk | Likely pathogenic | — |
| RS886041607 | Health Risk | Likely pathogenic | — |
| RS886042932 | Health Risk | Likely pathogenic | — |
| RS1131691682 | Health Risk | Pathogenic | — |
| RS1248996138 | Health Risk | Pathogenic | — |
| RS1359984033 | Health Risk | Pathogenic | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome |
| RS137852650 | Health Risk | Pathogenic | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome |
| RS137852651 | Health Risk | Pathogenic | Multiple epiphyseal dysplasia type 1, Abnormality of the skeletal system, Multiple epiphyseal dysplasia type 1 |
| RS137852652 | Health Risk | Pathogenic | Epiphyseal dysplasia, multiple, 1 |
| RS137852653 | Health Risk | Pathogenic | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome |