EGLN1

Gene

egl-9 family hypoxia inducible factor 1

HGNCHGNC:1232 EnsemblENSG00000135766 NCBI Gene54583

Locus: gene with protein productLocation: 1q42.2

Encodes

via encodes

The protein product this gene encodes, reached through the canonical GENE→PROTEIN (encodes) relation. Its biology, drugs, indications, trials and therapeutic evidence live on the protein's own page.

Egl nine homolog 1Q9GZT9

Protein · therapeutic target

Clinically validated target · 5 approved medicines against this target

Explore protein biology & therapeutics

Also known as

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

Also known asC1orf12 · SM-20 · PHD2 · ZMYND6 · HIFPH2

View full nomenclature history (9)

Previous symbolsC1orf12

Alias symbolsSM-20, PHD2, ZMYND6, HIFPH2

Previous namesEGL nine (C.elegans) homolog 1, egl nine homolog 1 (C. elegans), egl-9 family hypoxia-inducible factor 1

Alias namesHIF prolyl hydroxylase 2

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.

Anemia

Kidney Failure, Chronic

Neurodegenerative Diseases

Autosomal dominant secondary polycythemia

Kidney Diseases

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.

Zinc fingers MYND-typeEgl-9 family hypoxia inducible factors

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2026-06-10.

Open TargetsGene–disease associations from the Open Targets Platform.