PMS2

Gene

PMS1 homolog 2, mismatch repair system component

HGNCHGNC:9122 EnsemblENSG00000122512 NCBI Gene5395

Locus: gene with protein productLocation: 7p22.1

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.

Mismatch repair endonuclease PMS2P54278

Protein · therapeutic target

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Also known as

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

Also known asPMSL2 · H_DJ0042M02.9 · HNPCC4 · MLH4 · PMS-2

View full nomenclature history (8)

Previous symbolsPMSL2

Alias symbolsH_DJ0042M02.9, HNPCC4, MLH4, PMS-2

Previous namesPMS2 postmeiotic segregation increased 2 (S. cerevisiae), postmeiotic segregation increased (S. cerevisiae) 2, PMS1 homolog 2, mismatch repair protein

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.

Colorectal Neoplasms, Hereditary Nonpolyposis

Endometrial Neoplasms

Inherited cancer-predisposing syndrome

Neoplastic Syndromes, Hereditary

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.

MutL homologs

Provenance

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

Open TargetsGene–disease associations from the Open Targets Platform.