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Gene : COMP Homo sapiens

Name  ? cartilage oligomeric matrix protein Cytological Location  19p13.11
Brief Description  cartilage oligomeric matrix protein
Description  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]
  • synonyms:
  • THBS5,
  • cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple),
  • MED,
  • EDM1,
  • EDM1,
  • thrombospondin-5,
  • PSACH,
  • THBS5,
  • MED,
  • NM_000095,
  • COMP,
  • EPD1,
  • PSACH,
  • TSP5,
  • HGNC:2227,
  • OTTHUMG00000169318,
  • L32137,
  • uc002nke.4,
  • EPD1
  • identifiers:
  • 1311,
  • ENSG00000105664,
  • COMP

Genome feature

Region: gene ? Length: 8533  
Location: 19:18782773-18791305 reverse strand Cyto location: 19p13.11


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

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Genomics

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Proteins

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SNPs

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Disease

2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Expression

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Gene Ontology

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Other

208 SN Ps

5 Cross References

18 Data Sets

11 Homologues

0 Located Features

97 Rna Seq Results