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COMP cartilage oligomeric matrix protein [ Homo sapiens (human) ]

Gene ID: 1311, updated on 6-Sep-2021

Summary

Official Symbol
COMPprovided by HGNC
Official Full Name
cartilage oligomeric matrix proteinprovided by HGNC
Primary source
HGNC:HGNC:2227
See related
Ensembl:ENSG00000105664 MIM:600310
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MED; CTS2; EDM1; EPD1; TSP5; PSACH; THBS5
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]
Expression
Biased expression in gall bladder (RPKM 9.2), urinary bladder (RPKM 5.7) and 11 other tissues See more
Orthologs
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Genomic context

See COMP in Genome Data Viewer
Location:
19p13.11
Exon count:
19
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (18782773..18791305, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (18893583..18902114, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene kelch like family member 26 Neighboring gene CREB regulated transcription coactivator 1 Neighboring gene uncharacterized LOC107985321 Neighboring gene UPF1 RNA helicase and ATPase

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Carpal tunnel syndrome 2
MedGen: C5436916 OMIM: 619161 GeneReviews: Not available
not available
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 1 Compare labs
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
MedGen: C0410538 OMIM: 177170 GeneReviews: Pseudoachondroplasia
Compare labs

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC131819, MGC149768

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables BMP binding IEA
Inferred from Electronic Annotation
more info
 
enables calcium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
enables collagen binding IDA
Inferred from Direct Assay
more info
PubMed 
enables extracellular matrix structural constituent RCA
inferred from Reviewed Computational Analysis
more info
PubMed 
enables heparan sulfate proteoglycan binding IDA
Inferred from Direct Assay
more info
PubMed 
enables heparin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables integrin binding IEA
Inferred from Electronic Annotation
more info
 
enables protease binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables proteoglycan binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in BMP signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in animal organ morphogenesis TAS
Traceable Author Statement
more info
PubMed 
involved_in animal organ senescence IEA
Inferred from Electronic Annotation
more info
 
involved_in apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in artery morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in bone mineralization IEA
Inferred from Electronic Annotation
more info
 
involved_in chondrocyte development IEA
Inferred from Electronic Annotation
more info
 
involved_in chondrocyte proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in collagen fibril organization IEA
Inferred from Electronic Annotation
more info
 
involved_in growth plate cartilage development IEA
Inferred from Electronic Annotation
more info
 
involved_in limb development IDA
Inferred from Direct Assay
more info
PubMed 
involved_in multicellular organism aging IEA
Inferred from Electronic Annotation
more info
 
involved_in multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
involved_in musculoskeletal movement IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of hemostasis IEA
Inferred from Electronic Annotation
more info
 
involved_in platelet aggregation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of chondrocyte proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in protein processing IEA
Inferred from Electronic Annotation
more info
 
involved_in protein secretion IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of bone mineralization IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
involved_in response to unfolded protein IEA
Inferred from Electronic Annotation
more info
 
involved_in skeletal system development TAS
Traceable Author Statement
more info
PubMed 
involved_in skin development IEA
Inferred from Electronic Annotation
more info
 
involved_in tendon development IEA
Inferred from Electronic Annotation
more info
 
involved_in vascular associated smooth muscle cell development IEA
Inferred from Electronic Annotation
more info
 
involved_in vascular associated smooth muscle contraction IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
cartilage oligomeric matrix protein
Names
cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)
pseudoachondroplasia (epiphyseal dysplasia 1, multiple)
thrombospondin-5

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007070.1 RefSeqGene

    Range
    5001..13532
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000095.3NP_000086.2  cartilage oligomeric matrix protein precursor

    See identical proteins and their annotated locations for NP_000086.2

    Status: REVIEWED

    Source sequence(s)
    AU120397, BC033676, L32137
    Consensus CDS
    CCDS12385.1
    UniProtKB/Swiss-Prot
    P49747
    Related
    ENSP00000222271.2, ENST00000222271.7
    Conserved Domains (6) summary
    cd00054
    Location:180216
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    sd00001
    Location:396418
    TSP3; TSP3 repeat_short [structural motif]
    sd00002
    Location:301336
    TSP3; TSP3 repeat_long [structural motif]
    cd16077
    Location:3072
    TSP-5cc; Coiled coil region of thrombospondin-5 (TSP-5)
    pfam02412
    Location:301336
    TSP_3; Thrombospondin type 3 repeat
    pfam05735
    Location:546743
    TSP_C; Thrombospondin C-terminal region

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    18782773..18791305 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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