PNKP

Gene

polynucleotide kinase 3'-phosphatase

HGNCHGNC:9154 EnsemblENSG00000039650 NCBI Gene11284

Locus: gene with protein productLocation: 19q13.33

Also known as

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

Also known asPNK

View full nomenclature history (2)

Alias symbolsPNK

Alias namesbifunctional polynucleotide phosphatase/kinase

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.

early-infantile DEE

Genetic Diseases, Inborn

Genetic developmental and epileptic encephalopathy

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.

HAD Asp-based non-protein phosphatases

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2025-10-10.

Open TargetsGene–disease associations from the Open Targets Platform.