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 catio... See more...

Aliases for COMP Gene

Aliases for COMP Gene

  • Cartilage Oligomeric Matrix Protein 2 3 4 5
  • Thrombospondin-5 2 3 4
  • Cartilage Oligomeric Matrix Protein (Pseudoachondroplasia, Epiphyseal Dysplasia 1, Multiple) 2 3
  • THBS5 2 3
  • TSP5 3 4
  • MED 2 3
  • Pseudoachondroplasia (Epiphyseal Dysplasia 1, Multiple) 3
  • PSACH 3
  • CTS2 3
  • EDM1 3
  • EPD1 3
  • COMP 5

External Ids for COMP Gene

Previous HGNC Symbols for COMP Gene

  • PSACH
  • EDM1
  • EPD1

Previous GeneCards Identifiers for COMP Gene

  • GC19M019387
  • GC19M019285
  • GC19M018738
  • GC19M018754
  • GC19M018894
  • GC19M018458

Summaries for COMP Gene

Entrez Gene Summary for COMP Gene

  • 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]

GeneCards Summary for COMP Gene

COMP (Cartilage Oligomeric Matrix Protein) is a Protein Coding gene. Diseases associated with COMP include Pseudoachondroplasia and Epiphyseal Dysplasia, Multiple, 1. Among its related pathways are Degradation of the extracellular matrix and Phagosome. Gene Ontology (GO) annotations related to this gene include calcium ion binding and protease binding. An important paralog of this gene is THBS4.

UniProtKB/Swiss-Prot Summary for COMP Gene

  • May play 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 interaction with cell surface integrin receptors. Could play a role in the pathogenesis of osteoarthritis. Potent suppressor of apoptosis in both primary chondrocytes and transformed cells. Suppresses apoptosis by blocking the activation of caspase-3 and by inducing the IAP family of survival proteins (BIRC3, BIRC2, BIRC5 and XIAP). Essential for maintaining a vascular smooth muscle cells (VSMCs) contractile/differentiated phenotype under physiological and pathological stimuli. Maintains this phenotype of VSMCs by interacting with ITGA7 (By similarity).

Gene Wiki entry for COMP Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for COMP Gene

Genomics for COMP Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for COMP Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J018791 Promoter 0.6 EPDnew 250.7 0.0 -20 0.1 ZBTB33 ZSCAN4 EZH2 COMP LOC107985321 UPF1
GH19J018846 Promoter/Enhancer 1.3 Ensembl ENCODE dbSUPER 12.4 -57.5 -57455 5.2 ZNF654 BCL11A CTCF REST DEK TRIM22 RAD21 IRF4 SMC3 YY1 HSALNG0124664 COMP REX1BD ENSG00000269694 HOMER3-AS1 HSALNG0124663 piR-51820 UPF1 GDF1
GH19J018734 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 7.1 +51.7 51725 9.3 MYC NCOR1 IKZF1 ZMYM3 CEBPA NFIC ZIC2 MXD4 NONO HES1 CRTC1 COMP CRLF1 KXD1 GDF1 GDF15 piR-38242 lnc-COMP-1
GH19J018761 Enhancer 1.4 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 9.9 +27.8 27755 4.1 NFIC BHLHE40 ZNF217 HES1 MBD2 ELF1 CTBP1 SP2 RXRA TCF7L2 COMP CRLF1 TMEM59L HAPLN4 KXD1 lnc-COMP-1 piR-38242 CRTC1
GH19J018839 Enhancer 1.1 ENCODE dbSUPER 11.8 -48.8 -48769 1.6 KLF9 CEBPA ZIC2 YY1 MXD4 KLF11 BHLHE40 ZFP64 HOMEZ KMT2B COMP REX1BD HOMER3-AS1 HSALNG0124662 HSALNG0124663 UPF1 GDF1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around COMP on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for COMP

Top Transcription factor binding sites by QIAGEN in the COMP gene promoter:
  • p300
  • Sp1

Genomic Locations for COMP Gene

Latest Assembly
chr19:18,782,773-18,791,305
(GRCh38/hg38)
Size:
8,533 bases
Orientation:
Minus strand

Previous Assembly
chr19:18,893,583-18,902,114
(GRCh37/hg19 by Entrez Gene)
Size:
8,532 bases
Orientation:
Minus strand

chr19:18,893,583-18,902,123
(GRCh37/hg19 by Ensembl)
Size:
8,541 bases
Orientation:
Minus strand

Genomic View for COMP Gene

Genes around COMP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COMP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COMP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COMP Gene

Proteins for COMP Gene

  • Protein details for COMP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49747-COMP_HUMAN
    Recommended name:
    Cartilage oligomeric matrix protein
    Protein Accession:
    P49747
    Secondary Accessions:
    • B4DKJ3
    • O14592
    • Q16388
    • Q16389
    • Q2NL86
    • Q8N4T2

    Protein attributes for COMP Gene

    Size:
    757 amino acids
    Molecular mass:
    82860 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    • Pentamer; disulfide-linked. Exists in a more compact conformation in the presence of calcium and shows a more extended conformation in the absence of calcium. Interacts with ITGB3, ITGA5 and FN1. Binding to FN1 requires the presence of divalent cations (Ca(2+), Mg(2+) or Mn(2+)). The greatest amount of binding is seen in the presence of Mn(2+). Interacts with MATN1, MATN3, MATN4 and ACAN. Binds heparin, heparan sulfate and chondroitin sulfate. EDTA dimishes significantly its binding to ACAN and abolishes its binding to MATN3, MATN4 and chondroitin sulfate. Interacts with collagen I, II and IX, and interaction with these collagens is dependent on the presence of zinc ions. Interacts with ADAMTS12. Interacts with ITGA7 (By similarity).
    SequenceCaution:
    • Sequence=AAB86501.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for COMP Gene

    Alternative splice isoforms for COMP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COMP Gene

Post-translational modifications for COMP Gene

  • Glycosylation at Asn121 and Asn742
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for COMP Gene

No data available for DME Specific Peptides for COMP Gene

Domains & Families for COMP Gene

Gene Families for COMP Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for COMP Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ59562, highly similar to Cartilage oligomeric matrix protein (B4DKJ3_HUMAN)
  • Thrombospondin-5 (COMP_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P49747

UniProtKB/Swiss-Prot:

COMP_HUMAN :
  • The cell attachment motif mediates the attachment to chondrocytes. It mediates the induction of both the IAP family of survival proteins and the antiapoptotic response.
  • Belongs to the thrombospondin family.
Domain:
  • The cell attachment motif mediates the attachment to chondrocytes. It mediates the induction of both the IAP family of survival proteins and the antiapoptotic response.
  • The TSP C-terminal domain mediates interaction with FN1 and ACAN.
  • Each of the eight TSP type-3 repeats binds two calcium ions. The TSP C-terminal domain binds three calcium ions.
Family:
  • Belongs to the thrombospondin family.
genes like me logo Genes that share domains with COMP: view

Function for COMP Gene

Molecular function for COMP Gene

UniProtKB/Swiss-Prot Function:
May play 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 interaction with cell surface integrin receptors. Could play a role in the pathogenesis of osteoarthritis. Potent suppressor of apoptosis in both primary chondrocytes and transformed cells. Suppresses apoptosis by blocking the activation of caspase-3 and by inducing the IAP family of survival proteins (BIRC3, BIRC2, BIRC5 and XIAP). Essential for maintaining a vascular smooth muscle cells (VSMCs) contractile/differentiated phenotype under physiological and pathological stimuli. Maintains this phenotype of VSMCs by interacting with ITGA7 (By similarity).
GENATLAS Biochemistry:
cartilage oligomeric matrix glycoprotein (524kDa),cell adhesion molecule,thrombospondin family

Phenotypes From GWAS Catalog for COMP Gene

Gene Ontology (GO) - Molecular Function for COMP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IPI 18485748
GO:0005178 integrin binding IEA --
GO:0005201 extracellular matrix structural constituent TAS,RCA 20551380
GO:0005509 calcium ion binding TAS,IDA 10852928
GO:0005515 protein binding IPI 12225811
genes like me logo Genes that share ontologies with COMP: view
genes like me logo Genes that share phenotypes with COMP: view

Human Phenotype Ontology for COMP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for COMP Gene

MGI Knock Outs for COMP:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COMP

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for COMP Gene

Localization for COMP Gene

Subcellular locations from UniProtKB/Swiss-Prot for COMP Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for COMP gene
Compartment Confidence
extracellular 5
plasma membrane 2
cytoskeleton 2
nucleus 2
endoplasmic reticulum 2
mitochondrion 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for COMP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region HDA,TAS --
GO:0005615 extracellular space HDA 20551380
GO:0031012 extracellular matrix TAS 7713493
GO:0032991 protein-containing complex IEA --
GO:0062023 collagen-containing extracellular matrix IBA 21873635
genes like me logo Genes that share ontologies with COMP: view

Pathways & Interactions for COMP Gene

genes like me logo Genes that share pathways with COMP: view

Pathways by source for COMP Gene

Gene Ontology (GO) - Biological Process for COMP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development TAS 7670472
GO:0001503 ossification IEA --
GO:0002063 chondrocyte development IEA --
GO:0003416 endochondral bone growth IEA --
GO:0003417 growth plate cartilage development IEA --
genes like me logo Genes that share ontologies with COMP: view

No data available for SIGNOR curated interactions for COMP Gene

Drugs & Compounds for COMP Gene

(22) Drugs for COMP Gene - From: DrugBank, ClinicalTrials, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hyaluronic acid Approved, Vet_approved Pharma 827
Lidocaine Approved, Vet_approved Pharma Anasthetic and class Ib antiarrhythmic agent 2340
Calcium Nutra Target 6959
Adjuvants, Immunologic Pharma 2330
Immunologic Factors Pharma 22286

(19) Additional Compounds for COMP Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with COMP: view

Transcripts for COMP Gene

mRNA/cDNA for COMP Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COMP

Alternative Splicing Database (ASD) splice patterns (SP) for COMP Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19
SP1: -
SP2: -
SP3: - -
SP4: - - -
SP5:

Relevant External Links for COMP Gene

GeneLoc Exon Structure for
COMP

Expression for COMP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for COMP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for COMP Gene

This gene is overexpressed in Artery - Tibial (x17.8), Artery - Aorta (x4.9), and Adipose - Subcutaneous (x4.9).

Protein differential expression in normal tissues from HIPED for COMP Gene

This gene is overexpressed in Synovial fluid (47.1) and Monocytes (11.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for COMP Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for COMP

SOURCE GeneReport for Unigene cluster for COMP Gene:

Hs.1584

mRNA Expression by UniProt/SwissProt for COMP Gene:

P49747-COMP_HUMAN
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 main defect.

Evidence on tissue expression from TISSUES for COMP Gene

  • Liver(4.3)
  • Bone(4.1)
  • Muscle(3)
  • Heart(2.9)
  • Nervous system(2.6)
  • Blood(2.6)
  • Intestine(2.1)
  • Skin(2)
  • Bone marrow(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for COMP Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with COMP: view

Primer products for research

No data available for Protein tissue co-expression partners for COMP Gene

Orthologs for COMP Gene

This gene was present in the common ancestor of animals.

Orthologs for COMP Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia COMP 29 30
  • 99.6 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia COMP 29 30
  • 88.49 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia COMP 29 30
  • 87.99 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia COMP 30
  • 85 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Comp 29 16 30
  • 84.53 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Comp 29
  • 84.04 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia COMP 30
  • 84 (a)
OneToOne
Chicken
(Gallus gallus)
Aves COMP 29 30
  • 70.35 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia COMP 30
  • 77 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia comp 29
  • 65.65 (n)
Zebrafish
(Danio rerio)
Actinopterygii COMP 30
  • 68 (a)
OneToOne
im:7154332 29
  • 66.81 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002157 29
  • 62.35 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Tsp 29 30 31
  • 56.76 (n)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 56 (a)
OneToMany
Species where no ortholog for COMP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for COMP Gene

ENSEMBL:
Gene Tree for COMP (if available)
TreeFam:
Gene Tree for COMP (if available)
Aminode:
Evolutionary constrained regions (ECRs) for COMP: view image
Alliance of Genome Resources:
Additional Orthologs for COMP

Paralogs for COMP Gene

Paralogs for COMP Gene

(5) SIMAP similar genes for COMP Gene using alignment to 4 proteins:

  • COMP_HUMAN
  • B4DKJ3_HUMAN
  • G3XAP6_HUMAN
  • L8E6U6_HUMAN
genes like me logo Genes that share paralogs with COMP: view

Variants for COMP Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for COMP Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
1003738 Uncertain Significance: not provided 18,790,025(-) T/C
NM_000095.3(COMP):c.307A>G (p.Ile103Val)
MISSENSE
1006449 Uncertain Significance: not provided 18,785,773(-) T/C
NM_000095.3(COMP):c.1568A>G (p.Asn523Ser)
MISSENSE
1006985 Uncertain Significance: not provided 18,788,405(-) C/T
NM_000095.3(COMP):c.867+5G>A
INTRON
1010194 Uncertain Significance: not provided 18,785,796(-) G/C
NM_000095.3(COMP):c.1545C>G (p.Asp515Glu)
MISSENSE
1010414 Uncertain Significance: not provided 18,783,094(-) C/T
NM_000095.3(COMP):c.2187G>A (p.Gln729=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for COMP Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for COMP Gene

Variant ID Type Subtype PubMed ID
esv3643845 CNV loss 21293372
nsv1151217 CNV deletion 26484159
nsv833777 CNV loss 17160897
nsv952422 CNV deletion 24416366

Variation tolerance for COMP Gene

Residual Variation Intolerance Score: 17.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.67; 65.90% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for COMP Gene

Human Gene Mutation Database (HGMD)
COMP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COMP
Leiden Open Variation Database (LOVD)
COMP

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COMP Gene

Disorders for COMP Gene

MalaCards: The human disease database

(46) MalaCards diseases for COMP Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
pseudoachondroplasia
  • psach
epiphyseal dysplasia, multiple, 1
  • edm1
carpal tunnel syndrome 2
  • cts2
multiple epiphyseal dysplasia
  • polyepiphyseal dysplasia
skeletal dysplasias
  • osteochondrodysplasias
- elite association - COSMIC cancer census association via MalaCards
Search COMP in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

COMP_HUMAN
  • Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400]: A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal. {ECO:0000269 PubMed:11084047, ECO:0000269 PubMed:11565064, ECO:0000269 PubMed:21922596, ECO:0000269 PubMed:7670472, ECO:0000269 PubMed:9021009, ECO:0000269 PubMed:9184241, ECO:0000269 PubMed:9452026, ECO:0000269 PubMed:9463320, ECO:0000269 PubMed:9921895}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Pseudoachondroplasia (PSACH) [MIM:177170]: A skeletal dysplasia usually manifesting in the second year of life and characterized by moderate to severe disproportionate short stature, deformity of the lower limbs, brachydactyly, ligamentous laxity, and degenerative joint disease. {ECO:0000269 PubMed:10852928, ECO:0000269 PubMed:11084047, ECO:0000269 PubMed:11746044, ECO:0000269 PubMed:11746045, ECO:0000269 PubMed:21922596, ECO:0000269 PubMed:7670471, ECO:0000269 PubMed:7670472, ECO:0000269 PubMed:9184241, ECO:0000269 PubMed:9452026, ECO:0000269 PubMed:9452063, ECO:0000269 PubMed:9463320, ECO:0000269 PubMed:9921895}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for COMP

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with COMP: view

No data available for Genatlas for COMP Gene

Publications for COMP Gene

  1. Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia. (PMID: 12483304) Mabuchi A … Ikegawa S (Human genetics 2003) 3 22 40 72
  2. Characterization of human and mouse cartilage oligomeric matrix protein. (PMID: 7713493) Newton G … Lawler J (Genomics 1994) 2 3 4 22
  3. The crystal structure of the signature domain of cartilage oligomeric matrix protein: implications for collagen, glycosaminoglycan and integrin binding. (PMID: 19276170) Tan K … Lawler J (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2009) 3 4 22
  4. Cartilage oligomeric matrix protein protects cells against death by elevating members of the IAP family of survival proteins. (PMID: 17993464) Gagarina V … Hall DJ (The Journal of biological chemistry 2008) 3 4 22
  5. Sex and ethnic differences in the association of ASPN, CALM1, COL2A1, COMP, and FRZB with genetic susceptibility to osteoarthritis of the knee. (PMID: 17195216) Valdes AM … Spector TD (Arthritis and rheumatism 2007) 3 22 40

Products for COMP Gene

  • Boster Bio Antibodies for COMP
  • Boster Bio ELISA Kits for COMP

Sources for COMP Gene