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CEP290

Gene

centrosomal protein 290

HGNCHGNC:29021EnsemblENSG00000198707NCBI Gene80184
Locus: gene with protein productLocation: 12q21.32

Also known as

Symbols and names change; identity (the HGNC ID) does not. Previous and alternative forms are kept distinct.

Also known asKIAA0373 · FLJ13615 · rd16 · NPHP6 · JBTS5 · SLSN6 · LCA10 · MKS4 · BBS14 · CT87 · POC3 · 3H11Ag
View full nomenclature history (19)
Alias symbolsKIAA0373, FLJ13615, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3, 3H11Ag
Previous namescentrosomal protein 290kDa
Alias namesJoubert syndrome 5, nephrocystin-6, cancer/testis antigen 87, POC3 centriolar protein homolog (Chlamydomonas), Meckel syndrome, type 4, Bardet-Biedl syndrome 14

Associated diseases

via associated_with

Diseases linked to this gene through the canonical GENE→DISEASE (associated_with) relation, drawn from Open Targets' top-ranked associations by overall score — not the full association set. Disease-level detail lives on each disease's own page.

Leber Congenital Amaurosis

Drawn from Open Targets’ top 10 associations by overall score for this gene — the subset resolved to a canonical disease. Lower-ranked associations, and diseases not yet canonicalised, are not shown.

Gene family

HGNC gene-group membership.

MKS complexCentriolar satellite proteins

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2026-03-12.
Open TargetsGene–disease associations from the Open Targets Platform.