2. Gene
  3. Cep290 - centrosomal protein 290 Gene

Cep290 - centrosomal protein 290 Gene

  • Gene
  • Protein
  • Agent
  • Ortholog
Rattus norvegicus

Also known as RGD1311640

Gene ID: 314787 | Gene type: protein coding

About Cep290

Summary

Predicted to enable identical protein binding activity. Predicted to be involved in several processes, including animal organ development; cilium assembly; and positive regulation of intracellular protein transport. Predicted to act upstream of or within several processes, including animal organ development; determination of left/right symmetry; and photoreceptor cell maintenance. Located in ciliary basal body. 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_001135755.2 NP_001129227.1 centrosomal protein of 290 kDa isoform 2
NM_001401003.1 NP_001387932.1 centrosomal protein of 290 kDa isoform 1
Gene Ontology
  • Cellular Component
Cellular Component GO Annotation Evidence Reference Source
located in ciliary basal body IDA
IDA: Inferred from direct assay
17558407 RGD
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

centrosomal protein 290kDa

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