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

Gene ID: 1311, updated on 27-Nov-2024

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
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Genomic context

See COMP in Genome Data Viewer
Location:
19p13.11
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (18782773..18791305, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (18918369..18926902, complement)
RS_2024_09 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 Sharpr-MPRA regulatory region 5939 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18748277-18748791 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18758904-18759714 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18759715-18760525 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18762196-18762783 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18768110-18768641 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18768642-18769172 Neighboring gene kelch like family member 26 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18771679-18772215 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:18783189-18783923 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14330 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10416 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18806569-18807467 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18810877-18811723 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14331 Neighboring gene CREB regulated transcription coactivator 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18820620-18821614 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18859933-18860916 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18878537-18879414 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18879415-18880291 Neighboring gene Sharpr-MPRA regulatory region 9725 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10417 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:18900694-18901273 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:18901274-18901854 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:18901855-18902433 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:18905989-18906518 Neighboring gene Sharpr-MPRA regulatory region 2922 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10418 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10419 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10420 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10421 Neighboring gene NANOG hESC enhancer GRCh37_chr19:18944963-18945515 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14332 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14333 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:18960435-18960659 Neighboring gene UPF1 RNA helicase and ATPase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10422 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10423 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18994867-18995367 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10424 Neighboring gene ceramide synthase 1 Neighboring gene growth differentiation factor 1

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

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 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 cellular senescence 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 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
 

General protein information

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

  1. NG_007070.2 RefSeqGene

    Range
    5000..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
    B4DKJ3, O14592, P49747, Q16388, Q16389, Q2NL86, Q8N4T2
    UniProtKB/TrEMBL
    A8K3I0
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    18918369..18926902 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)