Details for: COMP

Gene ID: 1311

Symbol: COMP

Ensembl ID: ENSG00000105664

Description: cartilage oligomeric matrix protein

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 35.7452
    Cell Significance Index: -5.5600
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 21.9994
    Cell Significance Index: -5.5800
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 4.5095
    Cell Significance Index: -5.5600
  • Cell Name: chorionic trophoblast cell (CL0011101)
    Fold Change: 0.8624
    Cell Significance Index: 2.6800
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: 0.5899
    Cell Significance Index: 1.3300
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.5464
    Cell Significance Index: 63.6800
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: 0.4677
    Cell Significance Index: 1.0800
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 0.1747
    Cell Significance Index: 1.3900
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 0.0827
    Cell Significance Index: 0.5600
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0442
    Cell Significance Index: 19.5500
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.0362
    Cell Significance Index: 0.9300
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0073
    Cell Significance Index: 0.9300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0071
    Cell Significance Index: 3.8600
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.0068
    Cell Significance Index: 0.3400
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0037
    Cell Significance Index: 2.7300
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: 0.0016
    Cell Significance Index: 0.0200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0026
    Cell Significance Index: -4.9500
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0040
    Cell Significance Index: -7.3400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0045
    Cell Significance Index: -0.8200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0049
    Cell Significance Index: -7.5600
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0055
    Cell Significance Index: -7.4900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0065
    Cell Significance Index: -4.1300
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0073
    Cell Significance Index: -5.4900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0086
    Cell Significance Index: -6.3700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0107
    Cell Significance Index: -6.0100
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: -0.0107
    Cell Significance Index: -0.1600
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0119
    Cell Significance Index: -4.2600
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0126
    Cell Significance Index: -5.7300
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0137
    Cell Significance Index: -2.7200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0169
    Cell Significance Index: -4.8700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0190
    Cell Significance Index: -3.8200
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0225
    Cell Significance Index: -0.4700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0237
    Cell Significance Index: -2.9100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0250
    Cell Significance Index: -3.4400
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0263
    Cell Significance Index: -3.8300
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0292
    Cell Significance Index: -6.1600
  • Cell Name: muscle fibroblast (CL1001609)
    Fold Change: -0.0294
    Cell Significance Index: -0.1800
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: -0.0297
    Cell Significance Index: -0.4600
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0299
    Cell Significance Index: -1.2200
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: -0.0311
    Cell Significance Index: -0.3000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0372
    Cell Significance Index: -6.3500
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0404
    Cell Significance Index: -1.1300
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0426
    Cell Significance Index: -4.3500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0489
    Cell Significance Index: -5.6000
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: -0.0518
    Cell Significance Index: -0.4400
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0603
    Cell Significance Index: -7.7900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0653
    Cell Significance Index: -2.9600
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0658
    Cell Significance Index: -3.4300
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0658
    Cell Significance Index: -2.8600
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0690
    Cell Significance Index: -8.1400
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0710
    Cell Significance Index: -4.5800
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0732
    Cell Significance Index: -4.5000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0755
    Cell Significance Index: -5.0800
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.0757
    Cell Significance Index: -0.8600
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0782
    Cell Significance Index: -6.0000
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.0791
    Cell Significance Index: -0.8600
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0817
    Cell Significance Index: -3.8100
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0929
    Cell Significance Index: -4.8800
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.0995
    Cell Significance Index: -1.0300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0999
    Cell Significance Index: -4.7000
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1033
    Cell Significance Index: -7.7000
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1039
    Cell Significance Index: -5.8300
  • Cell Name: chondroblast (CL0000058)
    Fold Change: -0.1056
    Cell Significance Index: -0.6200
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.1081
    Cell Significance Index: -2.1100
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: -0.1122
    Cell Significance Index: -1.4500
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1247
    Cell Significance Index: -4.3700
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1269
    Cell Significance Index: -4.4100
  • Cell Name: L4 intratelencephalic projecting glutamatergic neuron (CL4030063)
    Fold Change: -0.1305
    Cell Significance Index: -1.4300
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.1338
    Cell Significance Index: -6.9500
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1384
    Cell Significance Index: -6.1200
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.1389
    Cell Significance Index: -3.7200
  • Cell Name: Langerhans cell (CL0000453)
    Fold Change: -0.1404
    Cell Significance Index: -1.3400
  • Cell Name: tendon cell (CL0000388)
    Fold Change: -0.1456
    Cell Significance Index: -1.9800
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1494
    Cell Significance Index: -4.8900
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1507
    Cell Significance Index: -4.8000
  • Cell Name: myoblast (CL0000056)
    Fold Change: -0.1516
    Cell Significance Index: -1.4900
  • Cell Name: ionocyte (CL0005006)
    Fold Change: -0.1578
    Cell Significance Index: -1.6500
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1616
    Cell Significance Index: -4.7600
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.1619
    Cell Significance Index: -4.6400
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: -0.1633
    Cell Significance Index: -1.6500
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1640
    Cell Significance Index: -6.2100
  • Cell Name: retinal astrocyte (CL4033015)
    Fold Change: -0.1665
    Cell Significance Index: -1.6300
  • Cell Name: microglial cell (CL0000129)
    Fold Change: -0.1667
    Cell Significance Index: -1.9600
  • Cell Name: professional antigen presenting cell (CL0000145)
    Fold Change: -0.1671
    Cell Significance Index: -1.5100
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.1726
    Cell Significance Index: -4.6100
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.1778
    Cell Significance Index: -4.5300
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.1801
    Cell Significance Index: -4.4900
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.1815
    Cell Significance Index: -5.1800
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.1852
    Cell Significance Index: -6.8000
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.1867
    Cell Significance Index: -3.2000
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.1880
    Cell Significance Index: -5.0300
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.1904
    Cell Significance Index: -4.1700
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.1908
    Cell Significance Index: -4.7600
  • Cell Name: monocyte-derived dendritic cell (CL0011031)
    Fold Change: -0.1915
    Cell Significance Index: -3.2900
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.1918
    Cell Significance Index: -4.9000
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.1947
    Cell Significance Index: -4.6700
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: -0.1954
    Cell Significance Index: -1.6900
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: -0.1959
    Cell Significance Index: -1.5100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.1975
    Cell Significance Index: -6.9400
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.1985
    Cell Significance Index: -2.8200

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** COMP is a large proteoglycan composed of a core protein and multiple chondroitin sulfate and keratan sulfate glycosaminoglycans. It is expressed in various tissues, including cartilage, bone, and immune cells, and is involved in maintaining the integrity of the ECM. COMP's structure and function are characterized by its ability to bind to collagen, proteoglycans, and other ECM components, as well as its role in regulating cell proliferation, differentiation, and survival. **Pathways and Functions:** COMP's involvement in various signaling pathways highlights its multifaceted role in tissue homeostasis and immune regulation. Key pathways include: 1. **Apoptotic Process:** COMP has been shown to regulate apoptosis in chondrocytes and other cells, suggesting its role in maintaining tissue homeostasis. 2. **Bone Mineralization:** COMP is involved in regulating the mineralization process in bone, which is critical for maintaining bone density and strength. 3. **Cartilage Homeostasis:** COMP plays a crucial role in maintaining the integrity of cartilage tissue, where it regulates chondrocyte proliferation and differentiation. 4. **Immune Regulation:** COMP has been shown to modulate immune responses, including inhibiting platelet aggregation and regulating the activity of immune cells, such as macrophages and T-cells. **Clinical Significance:** COMP's dysregulation has been implicated in various immune-related disorders, including: 1. **Arthritis:** COMP's role in regulating cartilage homeostasis and bone mineralization makes it a potential therapeutic target for treating arthritis. 2. **Osteoporosis:** COMP's involvement in bone mineralization suggests its potential role in regulating bone density and preventing osteoporosis. 3. **Immune-Related Disorders:** COMP's dysregulation has been implicated in various immune-related disorders, including rheumatoid arthritis, lupus, and multiple sclerosis. In conclusion, COMP is a multifunctional proteoglycan that plays a critical role in maintaining tissue homeostasis and regulating immune responses. Further research is needed to fully elucidate the mechanisms by which COMP regulates these processes and to explore its potential as a therapeutic target for immune-related disorders. **Significantly Expressed Cells:** COMP is expressed in various cell types, including: 1. **Colon Goblet Cell:** COMP is expressed in colon goblet cells, where it regulates mucus production and intestinal homeostasis. 2. **Granulocyte Monocyte Progenitor Cell:** COMP is expressed in granulocyte monocyte progenitor cells, where it regulates immune cell development and function. 3. **Enterocyte of Epithelium of Small Intestine:** COMP is expressed in enterocytes, where it regulates intestinal homeostasis and nutrient absorption. 4. **Glandular Epithelial Cell:** COMP is expressed in glandular epithelial cells, where it regulates epithelial homeostasis and function. **Proteins:** COMP is a proteoglycan composed of a core protein and multiple chondroitin sulfate and keratan sulfate glycosaminoglycans. It is also known as Thrombospondin-5.

Genular Protein ID: 1907263999

Symbol: COMP_HUMAN

Name: Thrombospondin-5

UniProtKB Accession Codes:

P49747 B4DKJ3 O14592 Q16388 Q16389 Q2NL86 Q8N4T2

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 2 CTD 1 ChEBI 1 ChiTaRS 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 EMBL 9 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 44 Gene3D 4 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 13 KEGG 1 MANE-Select 1 MIM 7 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PRO 1 PROSITE 5 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 4 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 Reactome 2 RefSeq 1 SMART 2 SMR 1 STRING 1 SUPFAM 5 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7713493

Title: Characterization of human and mouse cartilage oligomeric matrix protein.

PubMed ID: 7713493

DOI: 10.1006/geno.1994.1649

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15057824

Title: The DNA sequence and biology of human chromosome 19.

PubMed ID: 15057824

DOI: 10.1038/nature02399

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 7670472

Title: Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene.

PubMed ID: 7670472

DOI: 10.1038/ng0795-330

PubMed ID: 10852928

Title: Cartilage oligomeric matrix protein is a calcium-binding protein, and a mutation in its type 3 repeats causes conformational changes.

PubMed ID: 10852928

DOI: 10.1074/jbc.m909780199

PubMed ID: 11084047

Title: Mutations in cartilage oligomeric matrix protein causing pseudoachondroplasia and multiple epiphyseal dysplasia affect binding of calcium and collagen I, II, and IX.

PubMed ID: 11084047

DOI: 10.1074/jbc.m009512200

PubMed ID: 12225811

Title: Matrix-matrix interaction of cartilage oligomeric matrix protein and fibronectin.

PubMed ID: 12225811

DOI: 10.1016/s0945-053x(02)00015-x

PubMed ID: 15075323

Title: Interactions between the cartilage oligomeric matrix protein and matrilins. Implications for matrix assembly and the pathogenesis of chondrodysplasias.

PubMed ID: 15075323

DOI: 10.1074/jbc.m403778200

PubMed ID: 16051604

Title: Cartilage oligomeric matrix protein/thrombospondin 5 supports chondrocyte attachment through interaction with integrins.

PubMed ID: 16051604

DOI: 10.1074/jbc.m504778200

PubMed ID: 16542502

Title: Cartilage oligomeric matrix protein is involved in human limb development and in the pathogenesis of osteoarthritis.

PubMed ID: 16542502

DOI: 10.1186/ar1922

PubMed ID: 16611630

Title: ADAMTS-12 associates with and degrades cartilage oligomeric matrix protein.

PubMed ID: 16611630

DOI: 10.1074/jbc.m513433200

PubMed ID: 17588949

Title: Interaction of cartilage oligomeric matrix protein/thrombospondin 5 with aggrecan.

PubMed ID: 17588949

DOI: 10.1074/jbc.m611390200

PubMed ID: 17993464

Title: Cartilage oligomeric matrix protein protects cells against death by elevating members of the IAP family of survival proteins.

PubMed ID: 17993464

DOI: 10.1074/jbc.m704035200

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 19276170

Title: The crystal structure of the signature domain of cartilage oligomeric matrix protein: implications for collagen, glycosaminoglycan and integrin binding.

PubMed ID: 19276170

DOI: 10.1096/fj.08-128090

PubMed ID: 7670471

Title: Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia.

PubMed ID: 7670471

DOI: 10.1038/ng0795-325

PubMed ID: 9021009

Title: Multiple epiphyseal dysplasia, ribbing type: a novel point mutation in the COMP gene in a South African family.

PubMed ID: 9021009

DOI: 10.1002/(sici)1096-8628(19970211)68:4<396::aid-ajmg4>3.3.co;2-r

PubMed ID: 9184241

Title: Multiple epiphyseal dysplasia and pseudoachondroplasia due to novel mutations in the calmodulin-like repeats of cartilage oligomeric matrix protein.

PubMed ID: 9184241

DOI: 10.1111/j.1399-0004.1997.tb02458.x

PubMed ID: 9463320

Title: Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum.

PubMed ID: 9463320

DOI: 10.1086/301713

PubMed ID: 9921895

Title: Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia.

PubMed ID: 9921895

DOI: 10.1007/s004390050883

PubMed ID: 9452026

Title: Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia.

PubMed ID: 9452026

DOI: 10.1002/humu.1380110105

PubMed ID: 9452063

Title: Pseudoachondroplasia due to the substitution of the highly conserved Asp482 by Gly in the seventh calmodulin-like repeat of cartilage oligomeric matrix protein.

PubMed ID: 9452063

DOI: 10.1002/humu.1380110142

PubMed ID: 11746045

Title: Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita.

PubMed ID: 11746045

DOI: 10.1002/ajmg.10062

PubMed ID: 11746044

Title: Novel mutation in exon 18 of the cartilage oligomeric matrix protein gene causes a severe pseudoachondroplasia.

PubMed ID: 11746044

DOI: 10.1002/ajmg.10067

PubMed ID: 11565064

Title: A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity.

PubMed ID: 11565064

DOI: 10.1086/324023

PubMed ID: 21922596

Title: Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.

PubMed ID: 21922596

DOI: 10.1002/humu.21611

PubMed ID: 32686688

Title: Mutations in COMP cause familial carpal tunnel syndrome.

PubMed ID: 32686688

DOI: 10.1038/s41467-020-17378-z

PubMed ID: 32747625

Title: Author Correction: Mutations in COMP cause familial carpal tunnel syndrome.

PubMed ID: 32747625

DOI: 10.1038/s41467-020-17845-7

Sequence Information:

  • Length: 757
  • Mass: 82860
  • Checksum: A0B73AADB39FBC7B
  • Sequence:
    • MVPDTACVLL LTLAALGASG QGQSPLGSDL GPQMLRELQE TNAALQDVRE LLRQQVREIT 
FLKNTVMECD ACGMQQSVRT GLPSVRPLLH CAPGFCFPGV ACIQTESGAR CGPCPAGFTG 
NGSHCTDVNE CNAHPCFPRV RCINTSPGFR CEACPPGYSG PTHQGVGLAF AKANKQVCTD 
INECETGQHN CVPNSVCINT RGSFQCGPCQ PGFVGDQASG CQRRAQRFCP DGSPSECHEH 
ADCVLERDGS RSCVCAVGWA GNGILCGRDT DLDGFPDEKL RCPERQCRKD NCVTVPNSGQ 
EDVDRDGIGD ACDPDADGDG VPNEKDNCPL VRNPDQRNTD EDKWGDACDN CRSQKNDDQK 
DTDQDGRGDA CDDDIDGDRI RNQADNCPRV PNSDQKDSDG DGIGDACDNC PQKSNPDQAD 
VDHDFVGDAC DSDQDQDGDG HQDSRDNCPT VPNSAQEDSD HDGQGDACDD DDDNDGVPDS 
RDNCRLVPNP GQEDADRDGV GDVCQDDFDA DKVVDKIDVC PENAEVTLTD FRAFQTVVLD 
PEGDAQIDPN WVVLNQGREI VQTMNSDPGL AVGYTAFNGV DFEGTFHVNT VTDDDYAGFI 
FGYQDSSSFY VVMWKQMEQT YWQANPFRAV AEPGIQLKAV KSSTGPGEQL RNALWHTGDT 
ESQVRLLWKD PRNVGWKDKK SYRWFLQHRP QVGYIRVRFY EGPELVADSN VVLDTTMRGG 
RLGVFCFSQE NIIWANLRYR CNDTIPEDYE THQLRQA

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.