Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1311
Gene name	Cartilage oligomeric matrix protein
Gene symbol	COMP
Synonyms (NCBI Gene)	CTS2EDM1EPD1MEDPSACHTHBS5TSP-5TSP5
Chromosome	19
Chromosome location	19p13.11
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

Show/Hide all (48)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28936368	G>A,T	Benign, pathogenic	Synonymous variant, coding sequence variant, missense variant
rs28936668	T>C	Pathogenic	Coding sequence variant, missense variant
rs28936669	T>C	Pathogenic	Coding sequence variant, missense variant
rs137852650	C>A	Pathogenic	Coding sequence variant, missense variant
rs137852651	C>T	Pathogenic	Coding sequence variant, missense variant
rs137852652	C>A	Pathogenic	Coding sequence variant, missense variant
rs137852653	A>G	Pathogenic	Coding sequence variant, missense variant
rs137852654	G>C,T	Likely-pathogenic	Coding sequence variant, missense variant
rs137852655	C>T	Pathogenic	Coding sequence variant, missense variant
rs137852656	A>G	Pathogenic	Coding sequence variant, missense variant
rs149551600	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs193922900	TCG>-,TCGTCG,TCGTCGTCG	Pathogenic, pathogenic-likely-pathogenic	Inframe insertion, coding sequence variant, inframe deletion
rs312262899	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs312262900	G>A,C,T	Pathogenic	Missense variant, coding sequence variant
rs312262901	T>C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs312262903	G>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs312262904	C>T	Pathogenic	Missense variant, coding sequence variant
rs374063820	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs397515510	TGT>-	Pathogenic	Inframe deletion, coding sequence variant
rs397515511	G>T	Pathogenic	Coding sequence variant, missense variant
rs397515512	C>T	Pathogenic	Coding sequence variant, missense variant
rs397515513	G>C	Pathogenic	Coding sequence variant, missense variant
rs755374221	C>A,T	Likely-pathogenic	Splice donor variant
rs869320730	->G	Pathogenic	Frameshift variant, coding sequence variant
rs878853098	GCATCTCCCACAA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs886041607	C>A	Pathogenic	Missense variant, coding sequence variant
rs886042932	C>G,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1057521130	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1064794293	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1064794294	TCGTCC>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1131691682	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1131691835	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1359984033	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs1555791425	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1555791490	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1555791556	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1568554484	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1568554988	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1601053887	CCT>-	Pathogenic	Inframe deletion, coding sequence variant
rs1601053997	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1601054002	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1601054715	C>A	Pathogenic	Coding sequence variant, missense variant
rs1601055900	GCGCTGGTCTGGGTT>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1601055923	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1601057057	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1601057167	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1601057491	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1601057570	A>G	Likely-pathogenic	Coding sequence variant, missense variant

Show/Hide all (2)

Transcription factor	Regulation	Reference
LRF	Unknown	15337766
SP1	Unknown	11223338

Show/Hide all (70)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	IEA
GO:0001501	Process	Skeletal system development	TAS	7670472
GO:0001503	Process	Ossification	IEA
GO:0002020	Function	Protease binding	IEA
GO:0002020	Function	Protease binding	IPI	18485748
GO:0002063	Process	Chondrocyte development	IEA
GO:0003416	Process	Endochondral bone growth	IEA
GO:0003417	Process	Growth plate cartilage development	IEA
GO:0005178	Function	Integrin binding	IEA
GO:0005201	Function	Extracellular matrix structural constituent	RCA	20551380
GO:0005201	Function	Extracellular matrix structural constituent	TAS	7713493
GO:0005509	Function	Calcium ion binding	IDA	10852928, 11084047
GO:0005509	Function	Calcium ion binding	IEA
GO:0005509	Function	Calcium ion binding	TAS	7670472
GO:0005515	Function	Protein binding	IPI	12225811, 15075323, 16051604, 16611630, 17588949, 18485748, 25416956, 31515488, 32296183
GO:0005518	Function	Collagen binding	IDA	11084047
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	IDA	32747625
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	20551380
GO:0005615	Component	Extracellular space	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0006986	Process	Response to unfolded protein	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0007596	Process	Blood coagulation	IEA
GO:0008201	Function	Heparin binding	IDA	17588949
GO:0008201	Function	Heparin binding	IEA
GO:0009306	Process	Protein secretion	IEA
GO:0009887	Process	Animal organ morphogenesis	TAS	7713493
GO:0010468	Process	Regulation of gene expression	IEA
GO:0014829	Process	Vascular associated smooth muscle contraction	IEA
GO:0016485	Process	Protein processing	IEA
GO:0030199	Process	Collagen fibril organization	IEA
GO:0030282	Process	Bone mineralization	IEA
GO:0030500	Process	Regulation of bone mineralization	IEA
GO:0030509	Process	BMP signaling pathway	IEA
GO:0031012	Component	Extracellular matrix	HDA	20551380
GO:0031012	Component	Extracellular matrix	IBA
GO:0031012	Component	Extracellular matrix	IDA	18285447
GO:0031012	Component	Extracellular matrix	TAS	7713493
GO:0032991	Component	Protein-containing complex	IEA
GO:0035264	Process	Multicellular organism growth	IEA
GO:0035988	Process	Chondrocyte proliferation	IEA
GO:0035989	Process	Tendon development	IEA
GO:0036122	Function	BMP binding	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IDA	17993464
GO:0043394	Function	Proteoglycan binding	IDA	29030641
GO:0043395	Function	Heparan sulfate proteoglycan binding	IDA	17588949
GO:0043588	Process	Skin development	IEA
GO:0048844	Process	Artery morphogenesis	IEA
GO:0050881	Process	Musculoskeletal movement	IEA
GO:0050905	Process	Neuromuscular process	IEA
GO:0051216	Process	Cartilage development	IEA
GO:0051260	Process	Protein homooligomerization	IDA	32747625
GO:0051260	Process	Protein homooligomerization	IEA
GO:0055001	Process	Muscle cell development	IEA
GO:0060173	Process	Limb development	IDA	16542502
GO:0060173	Process	Limb development	IEA
GO:0060349	Process	Bone morphogenesis	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0070527	Process	Platelet aggregation	IEA
GO:0090398	Process	Cellular senescence	IEA
GO:0097084	Process	Vascular associated smooth muscle cell development	IEA
GO:0098868	Process	Bone growth	IEA
GO:1900047	Process	Negative regulation of hemostasis	IEA
GO:1902732	Process	Positive regulation of chondrocyte proliferation	IEA
GO:1990079	Process	Cartilage homeostasis	IDA	32747625
GO:1990079	Process	Cartilage homeostasis	IEA

MIM	HGNC	e!Ensembl
600310	2227	ENSG00000105664

P49747

Protein name

Cartilage oligomeric matrix protein (COMP) (Thrombospondin-5) (TSP5)

Protein function

Plays a role in the structural integrity of cartilage via its interaction with other extracellular matrix proteins such as the collagens and fibronectin. Can mediate the interaction of chondrocytes with the cartilage extracellular matrix through

PDB

3FBY

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF11598	COMP	29 → 73	Cartilage oligomeric matrix protein	Family
PF07645	EGF_CA	127 → 178	Calcium-binding EGF domain	Domain
PF07645	EGF_CA	180 → 221	Calcium-binding EGF domain	Domain
PF02412	TSP_3	301 → 336	Thrombospondin type 3 repeat	Repeat
PF02412	TSP_3	360 → 395	Thrombospondin type 3 repeat	Repeat
PF02412	TSP_3	395 → 418	Thrombospondin type 3 repeat	Repeat
PF02412	TSP_3	419 → 456	Thrombospondin type 3 repeat	Repeat
PF02412	TSP_3	457 → 492	Thrombospondin type 3 repeat	Repeat
PF02412	TSP_3	493 → 528	Thrombospondin type 3 repeat	Repeat
PF05735	TSP_C	546 → 743	Thrombospondin C-terminal region	Family

Tissue specificity

TISSUE SPECIFICITY: Abundantly expressed in the chondrocyte extracellular matrix, and is also found in bone, tendon, ligament and synovium and blood vessels. Increased amounts are produced during late stages of osteoarthritis in the area adjacent to the m

Sequence

MVPDTACVLLLTLAALGASGQGQSPLGSDLGPQMLRELQETNAALQDVRELLRQQVREIT
FLKNTVMECDACGMQQSVRTGLPSVRPLLHCAPGFCFPGVACIQTESGARCGPCPAGFTG
NGSHCTDVNECNAHPCFPRVRCINTSPGFRCEACPPGYSGPTHQGVGLAFAKANKQVCTD
INECETGQHNCVPNSVCINTRGSFQCGPCQPGFVGDQASGCQRRAQRFCPDGSPSECHEH
ADCVLERDGSRSCVCAVGWAGNGILCGRDTDLDGFPDEKLRCPERQCRKDNCVTVPNSGQ
EDVDRDGIGDACDPDADGDGVPNEKDNCPLVRNPDQRNTDEDKWGDACDNCRSQKNDDQK
DTDQDGRGDACDDDIDGDRIRNQADNCPRVPNSDQKDSDGDGIGDACDNCPQKSNPDQAD
VDHDFVGDACDSDQDQDGDGHQDSRDNCPTVPNSAQEDSDHDGQGDACDDDDDNDGVPDS
RDNCRLVPNPGQEDADRDGVGDVCQDDFDADKVVDKIDVCPENAEVTLTDFRAFQTVVLD
PEGDAQIDPNWVVLNQGREIVQTMNSDPGLAVGYTAFNGVDFEGTFHVNTVTDDDYAGFI
FGYQDSSSFYVVMWKQMEQTYWQANPFRAVAEPGIQLKAVKSSTGPGEQLRNALWHTGDT
ESQVRLLWKDPRNVGWKDKKSYRWFLQHRPQVGYIRVRFYEGPELVADSNVVLDTTMRGG
RLGVFCFSQENIIWANLRYRCNDTIPEDYETHQLRQA

Sequence length

757

Interactions

View interactions

	KEGG		Reactome
	Phagosome PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction Cytoskeleton in muscle cells Malaria Human papillomavirus infection		Integrin cell surface interactions ECM proteoglycans

352

Show/Hide Causal Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the skeletal system	Pathogenic	rs137852651	RCV001814443
Carpal tunnel syndrome 2	Likely pathogenic; Pathogenic	rs28936368, rs1555791490, rs312262900, rs1601054715, rs2055205599	RCV001289465 RCV004796224 RCV002496507 RCV002504388 RCV001289466
COMP-related disorder	Likely pathogenic; Pathogenic	rs2145902345, rs2145902131, rs2145900919, rs368273443, rs28933699, rs312262900, rs1601059597	RCV005868370 RCV004754819 RCV004754813 RCV003404620 RCV003894158 RCV004754281 RCV004545810
Epiphyseal dysplasia, multiple, 1, severe	Pathogenic	rs137852652, rs28936668	RCV000009765 RCV000009768
Multiple epiphyseal dysplasia	Likely pathogenic; Pathogenic	rs2145900523, rs137852654, rs193922900, rs28936368, rs312262900, rs149551600, rs1601054715	RCV001787703 RCV002054430 RCV002054431 RCV002054432 RCV002054552 RCV002054553 RCV002054897 RCV002069395
Multiple epiphyseal dysplasia type 1	Likely pathogenic; Pathogenic	rs368273443, rs2145901302, rs2145900523, rs2145902345, rs2055169002, rs1198060288, rs1555791556, rs2145897697, rs2145900873, rs2145903160, rs397515511, rs1601057491, rs137852654, rs193922900, rs137852655 View all (12 more)	RCV003232336 RCV001730047 RCV002236174 RCV001806396 RCV001823667 RCV002290796 RCV002221407 RCV002238714 RCV002238718 RCV002249014 RCV002288301 RCV002790043 RCV000009767 RCV000009771 RCV003989283 RCV000009775 RCV000009776 RCV003990350 RCV004006238 RCV000505823 RCV004796224 RCV001332185 RCV002496507 RCV000761229 RCV000853301 RCV000853323 RCV000995526 RCV001805971 RCV001810013 RCV001270873
Pseudoachondroplasia, severe	Likely pathogenic; Pathogenic	rs137852655	RCV000009772
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Likely pathogenic; Pathogenic	rs2145903203, rs2145902336, rs1198060288, rs2145903433, rs2145903238, rs2145900849, rs2145903266, rs2145903243, rs2145902239, rs2055165476, rs2145900494, rs2055161717, rs2145902248, rs2512847668, rs137852650 View all (23 more)	RCV001806405 RCV001806420 RCV002259406 RCV005868440 RCV005253917 RCV002227890 RCV002227954 RCV002238715 RCV002240139 RCV002240141 RCV002238716 RCV002306428 RCV002306432 RCV003153166 RCV000009761 RCV000009763 RCV000009766 RCV000009769 RCV000033881 RCV000033890 RCV000009773 RCV000009774 RCV003234856 RCV000505823 RCV004796224 RCV000033880 RCV000033886 RCV000033887 RCV000033888 RCV000033889 RCV000990188 RCV000990189 RCV000990191 RCV000995525 RCV001250922 RCV001250926 RCV001250924 RCV001250925 RCV002504388 RCV001293718
See cases	Likely pathogenic	rs1010796800	RCV002275377

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign	rs148847186	RCV005916770
Connective tissue disorder	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign	rs747106682, rs1190598083, rs143954978, rs2145900494, rs779140776, rs369897902, rs115338183, rs116499541, rs757094319, rs61739916, rs28936368, rs10421797, rs370458957	RCV002276979 RCV002277006 RCV002276997 RCV002278709 RCV002278711 RCV002278712 RCV002277410 RCV002278506 RCV002278507 RCV002277115 RCV002279653 RCV002279667 RCV002276629
Multiple Epiphyseal Dysplasia, Dominant	Likely benign	rs537572167	RCV000319369
Thymoma	Benign	rs148847186	RCV005916771

Show/Hide Text Mining Associations (56)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Achondrogenesis type 2	Associate	36939200
Adenocarcinoma	Associate	22247499, 34505128, 35990519, 37207219
Adenocarcinoma of Lung	Associate	24064399
Aortic Aneurysm	Inhibit	28849199
Arthritis	Associate	34680093
Arthritis Psoriatic	Associate	18485748
Arthritis Rheumatoid	Associate	15345499, 16761970, 34458379, 9714346
Barrett Esophagus	Associate	34505128
Bone Diseases Developmental	Associate	11087755
Breast Neoplasms	Stimulate	37229458
Breast Neoplasms	Associate	40141111
Carcinoma Hepatocellular	Associate	30999932
Carcinoma Non Small Cell Lung	Associate	40141111
Cardiomyopathy Restrictive	Associate	24376648
Cartilage Diseases	Associate	22241609, 30721648
Cerebrovascular Disorders	Associate	28849199
Cholangiocarcinoma	Associate	37838792
Colorectal Neoplasms	Stimulate	36551305
Colorectal Neoplasms	Associate	36671447, 37207219
Coronary Artery Disease	Associate	23415669
Diabetes Mellitus Type 2	Associate	34813359
Diastrophic dysplasia	Associate	10465113
Dwarfism Pituitary	Associate	33030144
Dysgeusia	Associate	34680093
Ehlers Danlos syndrome type 3	Inhibit	19035482
Endometriosis	Associate	34686725, 37187159
Epiphyseal dysplasia multiple 1	Associate	9756911
Fibrosis	Associate	35990519, 37207219
HEM dysplasia	Associate	10852928, 11084047, 21843649, 28924040
Idiopathic Pulmonary Fibrosis	Stimulate	24376648
Immunologic Deficiency Syndromes	Associate	19116307
Intra Articular Fractures	Associate	30317002
Joint Diseases	Associate	15458956
Joint Instability	Associate	19035482
Knee Injuries	Associate	22179616
Lysosomal Storage Diseases	Associate	15183431
Musculoskeletal Abnormalities	Associate	28924040
Neoplasm Metastasis	Stimulate	33910854
Neoplasms	Associate	30999932, 34813359, 35990519, 36671447, 37207219
Neoplasms	Stimulate	36551305
Neoplasms Adipose Tissue	Associate	30100245
Neurodegenerative Diseases	Associate	31746390
Osteoarthritis	Associate	16542502, 16802351, 18291686, 18485748, 20187133, 20305824, 22561860, 29741735, 30903650, 31696983, 33787363, 34680093
Osteoarthritis	Stimulate	9920012
Osteoarthritis Hip	Associate	22179616, 31352363
Osteoarthritis Knee	Associate	26848781
Osteochondritis Dissecans	Associate	39596690
Osteochondrodysplasias	Associate	10364514, 10465113, 10655510, 10852928, 11084047, 11565064, 11782471, 15183431, 16514635, 17133256, 20936634, 21843649, 21922596, 24595329, 33030144 View all (5 more)
Personality Disorders	Stimulate	23716368
Prostatic Neoplasms	Associate	23716368, 36124532
Prostatitis	Stimulate	23716368
Pseudoachondroplasia	Associate	10753957, 10852928, 11084047, 11782471, 14580238, 16514635, 20936634, 21599986, 21644213, 21843649, 21922596, 22675014, 24364233, 24595329, 28924040 View all (7 more)
Scleroderma Systemic	Stimulate	24330664
Spinal Cord Diseases	Associate	31746390
Thyroid Neoplasms	Stimulate	37229458
Urinary Bladder Neoplasms	Associate	33910854

COMP (cartilage oligomeric matrix protein)