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

Genome Assembly

GRCz12tu

Annotation Status

Current

Description

Acts upstream of or within several processes, including otolith mineralization; photoreceptor cell maintenance; and sensory organ morphogenesis. Predicted to be located in centrosome. 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

11 figures from 8 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	Additional Resources	Length
UniProtKB:A0A8M3AZL6	InterPro	2741
UniProtKB:F8W5U5	InterPro	2439
UniProtKB:A0A8M2BA16	InterPro	2734
UniProtKB:A0A8M3AP13	InterPro	2446
UniProtKB:A0A8M3AWH7	InterPro	2734
UniProtKB:A0AB32TDT1	InterPro	2727
UniProtKB:A0AB32TES9	InterPro	2468
UniProtKB:A0AB32TJJ0	InterPro	2461