COMP
Sign in to saveAlso known as EPD1, MED, EDM1, PSACH, THBS5, cartilage oligomeric matrix protein, TSP5, CTS2
gène de l'espèce Homo sapiens
Gene data
COMP- Name
- cartilage oligomeric matrix protein
- Type
- protein-coding
- Position
- 18,782,773–18,791,312 (−)
- Aliases
- CTS2, EDM1, EPD1, MED, PSACH, THBS5, TSP-5, TSP5
- Ensembl
- ENSG00000105664
- RefSeq RNA
- NM_000095.3
- RefSeq protein
- NP_000086.2
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 Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
cartilage oligomeric matrix protein
- Symbol
- COMP
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 19:18,782,773-18,791,312
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
- Image
- Protein COMP PDB 1fbm.png
Show 9 more facts
- HomoloGene ID
- 74
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/1311
- genomic end
- 18791305
- genomic start
- 18893583
- chromosome
- human chromosome 19
- cytogenetic location
- 19p13.11
- genetic association
- pseudoachondroplasia
- expressed in
- ascending aorta
Sources (7)
via Wikidata · CC0