Cep290 - centrosomal protein 290 Gene

Mus musculus

Also known as Nphp6; b2b1454Clo; b2b1752Clo

Gene ID: 216274 | Gene type: protein coding

About Cep290

Summary

Predicted to enable identical protein binding activity. Involved in cilium assembly; microtubule Cytoskeleton organization; and protein transport. Acts upstream of or within several processes, including animal organ development; cilium assembly; and photoreceptor cell maintenance. Located in centriolar satellite and photoreceptor cell cilium. Part of MKS complex. Used to study Joubert syndrome 5; Leber congenital amaurosis 10; cystic kidney disease; and visceral heterotaxy. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome 14; Joubert syndrome 5; Leber congenital amaurosis 10; Meckel syndrome 4; and Senior-Loken syndrome. Orthologous to human CEP290 (centrosomal protein 290). [provided by Alliance of Genome Resources, Apr 2022]

Cep290 Products(2)

mRNA	Protein	Name
NM_001400997.1	NP_001387926.1	centrosomal protein of 290 kDa isoform 1
NM_146009.4	NP_666121.2	centrosomal protein of 290 kDa isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16632484	MGI

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within ciliary basal body-plasma membrane docking	IMP IMP: Inferred from mutant phenotype	27002738	MGI
acts upstream of or within ciliary transition zone assembly	IMP IMP: Inferred from mutant phenotype	27002738	MGI
involved in cilium assembly	IMP IMP: Inferred from mutant phenotype	21565611	MGI
acts upstream of or within determination of left/right symmetry	IMP IMP: Inferred from mutant phenotype	25807483	MGI
acts upstream of or within establishment or maintenance of cell polarity	IMP IMP: Inferred from mutant phenotype	22832925	MGI
acts upstream of or within heart development	IMP IMP: Inferred from mutant phenotype	25807483	MGI
acts upstream of or within kidney development	IMP IMP: Inferred from mutant phenotype	27002738	MGI
involved in microtubule cytoskeleton organization	IGI IGI: Inferred from genetic interaction	29899041	MGI
acts upstream of or within non-motile cilium assembly	IMP IMP: Inferred from mutant phenotype	22832925	MGI
acts upstream of or within photoreceptor cell maintenance	IGI IGI: Inferred from genetic interaction	23943788	MGI
acts upstream of or within photoreceptor cell maintenance	IMP IMP: Inferred from mutant phenotype	23943788	MGI
acts upstream of or within protein localization	IMP IMP: Inferred from mutant phenotype	31302159	MGI
involved in protein transport	IMP IMP: Inferred from mutant phenotype	16632484	MGI
acts upstream of or within response to endoplasmic reticulum stress	IMP IMP: Inferred from mutant phenotype	31302159	MGI
acts upstream of or within retina development in camera-type eye	IMP IMP: Inferred from mutant phenotype	21052544	MGI

Cellular Component GO Annotation	Evidence	Reference	Source
part of MKS complex	IDA IDA: Inferred from direct assay	21725307	MGI
located in centriolar satellite	IDA IDA: Inferred from direct assay	24415959	MGI
located in centriole	IDA IDA: Inferred from direct assay	29038301	MGI
located in centrosome	IDA IDA: Inferred from direct assay	16632484	MGI
located in ciliary transition zone	IDA IDA: Inferred from direct assay	22446187	MGI
located in photoreceptor connecting cilium	IDA IDA: Inferred from direct assay	16632484	MGI
located in photoreceptor distal connecting cilium	IDA IDA: Inferred from direct assay	29899041	MGI
located in photoreceptor outer segment	IDA IDA: Inferred from direct assay	23943788	MGI
located in photoreceptor proximal connecting cilium	IDA IDA: Inferred from direct assay	29899041	MGI
is active in rod photoreceptor outer segment	IGI IGI: Inferred from genetic interaction	29899041	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

centrosomal protein of 290 kDa

Bardet-Biedl syndrome 14 protein homolog

nephrocystin-6

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02511	CEP290 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Cep290	NCBI	NCBI:80184

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