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Gene : CEP290 Homo sapiens

Name  ? centrosomal protein 290 Cytological Location  12q21.32
Brief Description  centrosomal protein 290
Description  This gene encodes a protein with 13 putative coiled-coil domains, a region with homology to SMC chromosome segregation ATPases, six KID motifs, three tropomyosin homology domains and an ATP/GTP binding site motif A. The protein is localized to the centrosome and cilia and has sites for N-glycosylation, tyrosine sulfation, phosphorylation, N-myristoylation, and amidation. Mutations in this gene have been associated with Joubert syndrome and nephronophthisis and the presence of antibodies against this protein is associated with several forms of cancer. [provided by RefSeq, Jul 2008]
  • synonyms:
  • MKS4,
  • BBS14,
  • CT87,
  • CEP290,
  • BBS14,
  • SLSN6,
  • CT87,
  • LCA10,
  • MKS4,
  • cancer/testis antigen 87,
  • Joubert syndrome 5,
  • NPHP6,
  • nephrocystin-6,
  • Meckel syndrome, type 4,
  • AB002371,
  • POC3,
  • LCA10,
  • POC3,
  • NPHP6,
  • SLSN6,
  • 3H11Ag,
  • uc001tar.4,
  • OTTHUMG00000169871,
  • KIAA0373,
  • JBTS5,
  • FLJ13615,
  • HGNC:29021,
  • POC3 centriolar protein homolog (Chlamydomonas),
  • rd16,
  • JBTS5,
  • centrosomal protein 290kDa,
  • rd16,
  • Bardet-Biedl syndrome 14,
  • 3H11Ag,
  • NM_025114
  • identifiers:
  • 80184,
  • ENSG00000198707,
  • CEP290

Genome feature

Region: gene ? Length: 93204  
Location: 12:88049013-88142216 reverse strand Cyto location: 12q21.32


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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

5 Diseases

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

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Expression

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Other

3753 SN Ps

5 Cross References

19 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results