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

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; AllianceGenome:HGNC:2227
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; 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]
Expression: Biased expression in gall bladder (RPKM 9.2), urinary bladder (RPKM 5.7) and 11 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.11

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (18782773..18791305, complement)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (18918369..18926902, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (18893583..18902114, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The Cancer-Associated Fibroblasts-Related Gene COMP Is a Novel Predictor for Prognosis and Immunotherapy Efficacy and Is Correlated with M2 Macrophage Infiltration in Colon Cancer.
Title: The Cancer-Associated Fibroblasts-Related Gene COMP Is a Novel Predictor for Prognosis and Immunotherapy Efficacy and Is Correlated with M2 Macrophage Infiltration in Colon Cancer.
TGF-beta Pathways Stratify Colorectal Cancer into Two Subtypes with Distinct Cartilage Oligomeric Matrix Protein (COMP) Expression-Related Characteristics.
Title: TGF-β Pathways Stratify Colorectal Cancer into Two Subtypes with Distinct Cartilage Oligomeric Matrix Protein (COMP) Expression-Related Characteristics.
Expression of cartilage oligomeric matrix protein in periampullary adenocarcinoma is associated with pancreatobiliary-type morphology, higher levels of fibrosis and immune cell exclusion.
Title: Expression of cartilage oligomeric matrix protein in periampullary adenocarcinoma is associated with pancreatobiliary-type morphology, higher levels of fibrosis and immune cell exclusion.
Cartilage Oligomeric Matrix Protein, Diseases, and Therapeutic Opportunities.
Title: Cartilage Oligomeric Matrix Protein, Diseases, and Therapeutic Opportunities.
Clinical, Biochemical, Radiological, Genetic and Therapeutic Analysis of Patients with COMP Gene Variants.
Title: Clinical, Biochemical, Radiological, Genetic and Therapeutic Analysis of Patients with COMP Gene Variants.
Duchenne muscular dystrophy trajectory in R-DMDdel52 preclinical rat model identifies COMP as biomarker of fibrosis.
Title: Duchenne muscular dystrophy trajectory in R-DMDdel52 preclinical rat model identifies COMP as biomarker of fibrosis.
A Preliminary Study of Combined Detection of COMP, TIMP-1, and MMP-3 in Synovial Fluid: Potential Indicators of Osteoarthritis Progression.
Title: A Preliminary Study of Combined Detection of COMP, TIMP-1, and MMP-3 in Synovial Fluid: Potential Indicators of Osteoarthritis Progression.
Expression of cartilage oligomeric matrix protein (COMP) associates with capsular invasion in salivary gland pleomorphic adenoma.
Title: Expression of cartilage oligomeric matrix protein (COMP) associates with capsular invasion in salivary gland pleomorphic adenoma.
Proteomic analysis of peritoneal fluid identified COMP and TGFBI as new candidate biomarkers for endometriosis.
Title: Proteomic analysis of peritoneal fluid identified COMP and TGFBI as new candidate biomarkers for endometriosis.
Description of Joint Alterations Observed in a Family Carrying p.Asn453Ser COMP Variant: Clinical Phenotypes, In Silico Prediction of Functional Impact on COMP Protein and Stability, and Review of the Literature.
Title: Description of Joint Alterations Observed in a Family Carrying p.Asn453Ser COMP Variant: Clinical Phenotypes, In Silico Prediction of Functional Impact on COMP Protein and Stability, and Review of the Literature.

Submit: New GeneRIF Correction See all GeneRIFs (139)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Carpal tunnel syndrome 2 MedGen: C5436916 OMIM: 619161 GeneReviews: Not available	Compare labs
Multiple epiphyseal dysplasia type 1 MedGen: C1838280 OMIM: 132400 GeneReviews: Multiple Epiphyseal Dysplasia, Dominant	Compare labs
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome MedGen: C0410538 OMIM: 177170 GeneReviews: Pseudoachondroplasia	Compare labs

EBI GWAS Catalog

Description
Meta-analysis identifies loci affecting levels of the potential osteoarthritis biomarkers sCOMP and uCTX-II with genome wide significance. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-L32137 (e-PCR)
- UniSTS:23117

STS-N94385 (e-PCR)
- UniSTS:37485

COMP (e-PCR)
- UniSTS:505741

GDB:681601 (e-PCR)
- UniSTS:158628

GDB:681607 (e-PCR)
- UniSTS:158630

Homology

Homologs of the COMP gene: The COMP gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, and frog.
Orthologs from Annotation Pipeline: 484 organisms have orthologs with human gene COMP
Orthologs

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 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 cartilage homeostasis	IDA Inferred from Direct Assay more info	PubMed
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 homooligomerization	IDA Inferred from Direct Assay more info	PubMed
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

Component	Evidence Code	Pubs
colocalizes_with collagen-containing extracellular matrix	HDA more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular matrix	TAS Traceable Author Statement more info	PubMed
located_in extracellular region	HDA more info	PubMed
located_in extracellular region	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	HDA more info	PubMed
part_of protein-containing complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: cartilage oligomeric matrix protein

Names: cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple); multiple epiphyseal dysplasia; 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

NG_007070.2 RefSeqGene

Range

5000..13532

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000095.3 → NP_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, Q8N4T2

Related

ENSP00000222271.2, ENST00000222271.7

Conserved Domains (6) summary

cd00054
Location:180 → 216

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:396 → 418

TSP3; TSP3 repeat_short [structural motif]

sd00002
Location:301 → 336

TSP3; TSP3 repeat_long [structural motif]

cd16077
Location:30 → 72

TSP-5cc; Coiled coil region of thrombospondin-5 (TSP-5)

pfam02412
Location:301 → 336

TSP_3; Thrombospondin type 3 repeat

pfam05735
Location:546 → 743

TSP_C; Thrombospondin C-terminal region