Gene

cep290

ID

ZDB-GENE-041111-243

Name

centrosomal protein 290

Symbol

cep290 Nomenclature History

Previous Names

im:7145703
im:7147820 (1)
nephrocystin-6 (1)
nphp6 (1)

Type

protein_coding_gene

Location

Chr: 25 Mapping Details/Browsers

Description

Involved in hindbrain development; pronephros development; and sensory organ morphogenesis. Acts upstream of or within several processes, including otolith development; photoreceptor cell maintenance; and retina layer formation. Predicted to be located in centrosome and nucleus. Predicted to be active in centriolar satellite and ciliary transition zone. Is expressed in several structures, including Kupffer's vesicle; gut; nervous system; notochord; and pronephros. Used to study Leber congenital amaurosis; ciliopathy; and retinal degeneration. 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).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

10 figures from 7 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

IMAGE:7145703 (1 image)
IMAGE:7147820 (1 image)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 50 figures from 15 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With cep290 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
Bardet-Biedl syndrome 14	Alliance	?Bardet-Biedl syndrome 14	615991
Joubert syndrome 5	Alliance	Joubert syndrome 5	610188
Leber congenital amaurosis 10	Alliance	Leber congenital amaurosis 10	611755
Meckel syndrome 4	Alliance	Meckel syndrome 4	611134
Senior-Loken syndrome	Alliance	Senior-Loken syndrome 6	610189

Associated With cep290 Via Experimental Models

Human Disease	Fish	Conditions	Citations
ciliopathy	WT + MO4-cep290	control	Tobin et al., 2008
Leber congenital amaurosis	cep290^{sa1383/sa1383}	standard conditions	Wang et al., 2020
retinal degeneration	cep290^fh297/fh297	standard conditions	Fogerty et al., 2022

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR032321	Centrosomal protein of 290kDa, coiled-coil region
Family	IPR026201	Centrosomal protein of 290kDa

Domain Details Per Protein

Protein	Length	Centrosomal protein of 290kDa	Centrosomal protein of 290kDa, coiled-coil region
UniProtKB:A0A8M3AZL6 InterPro	2741
UniProtKB:F8W5U5 InterPro	2439
UniProtKB:A0A8M2BA16 InterPro	2734
UniProtKB:A0A8M3AP13 InterPro	2446
UniProtKB:A0A8M3AWH7 InterPro	2734