Database of mammalian genes
Home

Home Search Browse Statistics User guide FAQs Links Questions Contribute Download


Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for CEP290 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID80184
Official gene symbolCEP290
Full namecentrosomal protein 290kDa
Aliases,3H11Ag,BBS14,CT87,FLJ13615,FLJ21979,JBTS5,JBTS6,KIAA0373,LCA10,MKS4,NPHP6,POC3,SLSN6,rd16,
Gene summaryThis 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]
LocationChromosome: 12   Locus: 12q21.32
Gene position88535993 - 88442790  Map Viewer
Gene orientationminus
Gene size93204 bp
Gene sequence
OMIM ID610142