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Gene : CILP Homo sapiens

Name  ? cartilage intermediate layer protein Cytological Location  15q22.31
Brief Description  cartilage intermediate layer protein
Description  Major alterations in the composition of the cartilage extracellular matrix occur in joint disease, such as osteoarthrosis. This gene encodes the cartilage intermediate layer protein (CILP), which increases in early osteoarthrosis cartilage. The encoded protein was thought to encode a protein precursor for two different proteins; an N-terminal CILP and a C-terminal homolog of NTPPHase, however, later studies identified no nucleotide pyrophosphatase phosphodiesterase (NPP) activity. The full-length and the N-terminal domain of this protein was shown to function as an IGF-1 antagonist. An allelic variant of this gene has been associated with lumbar disc disease. [provided by RefSeq, Sep 2010]
  • synonyms:
  • AY358904,
  • cartilage intermediate layer protein, nucleotide pyrophosphohydrolase,
  • CILP,
  • NM_003613,
  • CILP-1,
  • OTTHUMG00000133140,
  • HsT18872,
  • uc002aon.3,
  • HGNC:1980,
  • HsT18872
  • identifiers:
  • 8483,
  • ENSG00000138615,
  • CILP

Genome feature

Region: gene ? Length: 18383  
Location: 15:65194760-65213142 reverse strand Cyto location: 15q22.31


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Gene -> HPO annotation (Human Phenotype Ontology)

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Proteins

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SNPs

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Disease

1 Diseases

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

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Gene -> HPO annotation (Human Phenotype Ontology)

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Expression

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Other

940 SN Ps

5 Cross References

17 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results