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RPGRIP1L

Gene

RPGRIP1 like

HGNCHGNC:29168EnsemblENSG00000103494NCBI Gene23322
Locus: gene with protein productLocation: 16q12.2

Also known as

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

Also known asKIAA1005 · CORS3 · JBTS7 · MKS5 · NPHP8 · FTM · PPP1R134
View full nomenclature history (11)
Alias symbolsKIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134
Previous namesRPGRIP1-like
Alias namesfantom homolog, Meckel syndrome, type 5, protein phosphatase 1, regulatory subunit 134

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.

Genetic Diseases, Inborn
Ciliopathy
Neurodegenerative Diseases

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.

Protein phosphatase 1 regulatory subunitsC2 domain containingMKS complexNPHP complex

Provenance

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