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Gene: CEP290 (centrosomal protein 290) Homo sapiens
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Symbol: CEP290
Name: centrosomal protein 290
Description: Exhibits identical protein binding activity. Involved in cilium assembly; positive regulation of intracellular protein transport; and positive regulation of transcription, DNA-templated. Localizes to several cellular components, including the ciliary transition zone; cytosol; and microtubule organizing center. Colocalizes with the gamma-tubulin complex. Implicated in Bardet-Biedl syndrome 14; Joubert syndrome 5; Leber congenital amaurosis 10; Meckel syndrome 4; and Senior-Loken syndrome.
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
Orthologs:
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
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
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)
Model


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

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences