CEP290 (centrosomal protein 290) - Rat Genome Database

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Gene: CEP290 (centrosomal protein 290) Homo sapiens
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Symbol: CEP290
Name: centrosomal protein 290
RGD ID: 1604786
HGNC Page HGNC
Description: Enables identical protein binding activity. Involved in cilium assembly; positive regulation of intracellular protein transport; and positive regulation of transcription, DNA-templated. Acts upstream of or within regulation of establishment of protein localization. Located in several cellular components, including ciliary transition zone; cytosol; and microtubule organizing center. Part of protein-containing complex. Colocalizes with centrosome. 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
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1288,049,016 - 88,142,099 (-)EnsemblGRCh38hg38GRCh38
GRCh381288,049,013 - 88,142,216 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371288,442,793 - 88,535,865 (-)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