NPHP4

Chr 1AR

nephrocystin 4

Also known as: POC10, SLSN4

NCBI Gene: 261734 ENSG00000131697 UniProt: O75161 OMIM: 607215

The protein organizes apical junctions and is required for building functional cilia, playing critical roles in renal tubular development and function. Mutations cause nephronophthisis type 4 (a renal cystic disease) and Senior-Loken syndrome type 4 (nephronophthisis combined with retinitis pigmentosa), affecting both kidney and retinal function. The condition follows autosomal recessive inheritance.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a protein involved in renal tubular development and function. This protein interacts with nephrocystin, and belongs to a multifunctional complex that is localized to actin- and microtubule-based structures. Mutations in this gene are associated with nephronophthisis type 4, a renal disease, and with Senior-Loken syndrome type 4, a combination of nephronophthisis and retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Nephronophthisis 4MIM #606966

Senior-Loken syndrome 4MIM #606996

Nephronophthisis 4MIM #606966

Clinical highlights

Gene-disease validity (ClinGen)

nephronophthisis 4 · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.98

LOEUF

LOF

Mechanism· G2P