Gene: CEP290 (centrosomal protein 290) Homo sapiens
Symbol: CEP290
Name: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 3H11Ag; Bardet-Biedl syndrome 14 protein; BBS14; cancer/testis antigen 87; centrosomal protein 290kDa; centrosomal protein of 290 kDa; CT87; CTCL tumor antigen se2-2; FLJ13615; FLJ21979; JBTS5; JBTS6; KIAA0373; LCA10; Meckel syndrome, type 4; MKS4; monoclonal antibody 3H11 antigen; nephrocytsin-6; NPHP6; POC3; POC3 centriolar protein homolog; prostate cancer antigen T21; rd16; SLSN6; tumor antigen se2-2
Mus musculus (house mouse) : Cep290 (centrosomal protein 290)  MGI  Alliance
Rattus norvegicus (Norway rat) : Cep290 (centrosomal protein 290)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Cep290 (centrosomal protein 290)
Pan paniscus (bonobo/pygmy chimpanzee) : CEP290 (centrosomal protein 290)
Canis lupus familiaris (dog) : CEP290 (centrosomal protein 290)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Cep290 (centrosomal protein 290)
Sus scrofa (pig) : CEP290 (centrosomal protein 290)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh381288,049,013 - 88,142,216 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371288,442,790 - 88,535,993 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361286,966,921 - 87,060,124 (-)NCBINCBI36hg18NCBI36
Celera1288,110,804 - 88,204,074 (-)NCBI
Cytogenetic Map12q21.32NCBI
HuRef1285,509,678 - 85,602,945 (-)NCBIHuRef
CHM1_11288,407,817 - 88,501,072 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status


Nucleotide Sequences
Protein Sequences