P3H4

Gene

prolyl 3-hydroxylase family member 4 (inactive)

HGNCHGNC:16946 EnsemblENSG00000141696 NCBI Gene10609

Locus: gene with protein productLocation: 17q21.2

Also known as

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

Also known asLEPREL4 · SC65 · NO55

View full nomenclature history (8)

Previous symbolsLEPREL4

Alias symbolsSC65, NO55

Previous namesprolyl 3-hydroxylase family member 4 (non-enzymatic), nucleolar autoantigen (55kD), rat synaptonemal complex protein, leprecan-like 4

Alias namessynaptonemal complex 65

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.

Amyotrophic Lateral Sclerosis

Osteogenesis Imperfecta

Breast Neoplasms

Urinary bladder carcinoma

Urinary Bladder Neoplasms

Hereditary sensory and autonomic neuropathy type 2

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.

Prolyl 3-hydroxylase family

Provenance

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

Open TargetsGene–disease associations from the Open Targets Platform.