PITPNM1

Gene

phosphatidylinositol transfer protein membrane associated 1

HGNCHGNC:9003 EnsemblENSG00000110697 NCBI Gene9600

Locus: gene with protein productLocation: 11q13.2

Also known as

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

Also known asPITPNM · DRES9 · NIR2 · RDGB1 · RDGBA1 · Rd9 · RDGB

View full nomenclature history (10)

Previous symbolsPITPNM

Alias symbolsDRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB

Previous namesphosphatidylinositol transfer protein, membrane associated 1

Alias namesPYK2 N-terminal domain-interacting receptor 2, retinal degeneration B alpha 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.

Neurodegenerative Diseases

Retinal Degeneration

Breast Neoplasms

Neoplasms

Hypocalcemic vitamin D-resistant rickets

Pancreatic triacylglycerol lipase deficiency

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.

Phosphatidylinositol transfer proteins

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2023-01-20.

Open TargetsGene–disease associations from the Open Targets Platform.