|  Help  |  About  |  Contact Us

Protein Coding Gene : Cep290 centrosomal protein 290

Primary Identifier  MGI:2384917 Organism  mouse, laboratory
Chromosome  10 NCBI Gene Number  216274
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0)

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 cilium assembly; photoreceptor cell maintenance; and retina development in camera-type eye. Located in microtubule organizing center and photoreceptor cell cilium. Part of MKS complex. Is active in rod photoreceptor outer segment. Used to study Joubert syndrome 5; Leber congenital amaurosis 10; cystic kidney disease; and visceral heterotaxy. Human ortholog(s) of this gene implicated in several diseases, including 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).
PHENOTYPE: Mutant mice display mislocalization of ciliary and phototransduction proteins resulting in early-onset retinal degeneration. Heterotaxy with transposition of the great arteries (TGA), atrioventricular septal defect (AVSD), left bronchial isomerism, and hypoplastic spleen is also seen. [provided by MGI curators]
  • synonyms:
  • cDNA sequence BC004690,
  • Mutant line 1752,
  • centrosomal protein 290,
  • BC004690,
  • b2b1454Clo,
  • Nphp6,
  • MGI:5437065,
  • MGI:5438053,
  • Cep290,
  • MGC:7859,
  • Mutant line 1454,
  • b2b1752Clo,
  • Kiaa

Features --> Cross References

Genome

Sequence Feature Displayer

JG Browse Displayer

0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

1 Involved In Mutations

0 Strain

0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

19 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

Other

0 Driver For