COMP cartilage oligomeric matrix protein

Gene ID: 1311, updated on 19-Sep-2024
Gene type: protein coding
Also known as: MED; CTS2; EDM1; EPD1; TSP5; PSACH; THBS5; TSP-5

Summary

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Carpal tunnel syndrome 2 MedGen: C5436916OMIM: 619161GeneReviews: Not available	See labs
Meta-analysis identifies loci affecting levels of the potential osteoarthritis biomarkers sCOMP and uCTX-II with genome wide significance. GeneReviews: Not available
Multiple epiphyseal dysplasia type 1 MedGen: C1838280OMIM: 132400GeneReviews: Multiple Epiphyseal Dysplasia, Dominant	See labs
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome MedGen: C0410538OMIM: 177170GeneReviews: COMP-Related Pseudoachondroplasia	See labs

Genomic context

Location:: 19p13.11

Sequence:: Chromosome: 19; NC_000019.10 (18782773..18791305, complement)

Total number of exons:: 19

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for COMP variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
COMP database
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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