Cep290 - centrosomal protein 290 Gene

Also Known as Nphp6; b2b1454Clo; b2b1752Clo

Species: Mus musculus

Gene Type: protein coding
Gene ID: 216274

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 References Source
enables protein binding IPI
IPI: Inferred from physical interaction
16632484 MGI
Biological Process GO Annotation Evidence References 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 References 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

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