CEP290

CEP290
Identifiers
Aliases	CEP290, 3H11Ag, BBS14, CT87, JBTS5, LCA10, MKS4, NPHP6, POC3, SLSN6, rd16, centrosomal protein 290
External IDs	OMIM: 610142; MGI: 2384917; HomoloGene: 77213; GeneCards: CEP290; OMA:CEP290 - orthologs
Gene location (Human)
Chr.	Chromosome 12 (human)
End	88,142,099 bp
Gene location (Mouse)
Chr.	Chromosome 10 (mouse)
End	100,410,702 bp
RNA expression pattern
	Top expressed in
	right uterine tube; ; testicle; ; ventricular zone; ; bronchial epithelial cell; ; Achilles tendon; ; endothelial cell; ; Brodmann area 23; ; sural nerve; ; left ovary; ; right ovary;
	Top expressed in
	spermatid; ; spermatocyte; ; neural layer of retina; ; tail of embryo; ; genital tubercle; ; olfactory epithelium; ; ventricular zone; ; pineal gland; ; Epithelium of choroid plexus; ; morula;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	protein binding; microtubule minus-end binding; identical protein binding;
Cellular component	cytoplasm; cytosol; centrosome; cell projection; MKS complex; membrane; gamma-tubulin complex; centriolar satellite; ciliary transition zone; cilium; photoreceptor connecting cilium; microtubule organizing center; cytoskeleton; nucleus; ciliary basal body; extracellular region; centriole; cytoplasmic vesicle; specific granule lumen; protein-containing complex;
Biological process	positive regulation of intracellular protein transport; pronephros development; otic vesicle formation; hindbrain development; positive regulation of transcription, DNA-templated; cell projection organization; G2/M transition of mitotic cell cycle; regulation of establishment of protein localization; eye photoreceptor cell development; protein transport; cilium assembly; neutrophil degranulation; ciliary basal body-plasma membrane docking; regulation of G2/M transition of mitotic cell cycle; transport;
	Sources:Amigo / QuickGO
Orthologs
	80184
	216274
	ENSG00000198707
	ENSMUSG00000019971
	O15078
	Q6A078
	NM_025114
	NM_146009; NM_001400997
	NP_079390
	NP_666121; NP_001387926
	Wikidata
View/Edit Human	View/Edit Mouse

Centrosomal protein of 290 kDa is a protein that in humans is encoded by the CEP290 gene. CEP290 is located on the Q arm of chromosome 12.