Back to discover

NPC2

Gene

NPC intracellular cholesterol transporter 2

HGNCHGNC:14537EnsemblENSG00000119655NCBI Gene10577
Locus: gene with protein productLocation: 14q24.3

Also known as

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

Also known asHE1 · NP-C2 · EDDM1
View full nomenclature history (5)
Alias symbolsHE1, NP-C2, EDDM1
Previous namesNiemann-Pick disease, type C2
Alias namesepididymal protein 1

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.

Niemann-Pick Disease, Type C
Genetic Diseases, Inborn
Niemann-Pick disease
Glaucoma, Open-Angle
Glaucoma

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.

MicroRNA protein coding host genesMD-2 related lipid recognition domain containing

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2023-01-20.
Open TargetsGene–disease associations from the Open Targets Platform.