ZFPM2

Chr 8AD

zinc finger protein, FOG family member 2

Also known as: DIH3, FOG2, PRDM19, SRXY9, ZC2HC11B, ZNF89B, hFOG-2

NCBI Gene: 23414 ENSG00000169946 UniProt: Q8WW38 OMIM: 603693

This gene encodes a zinc finger transcription factor that acts as an essential cofactor for GATA family proteins, regulating genes critical for heart development and gonadal differentiation. Mutations cause autosomal dominant conditions including tetralogy of Fallot, diaphragmatic hernia, and 46,XY sex reversal, affecting cardiac, pulmonary, and reproductive development. The gene is highly constrained against loss-of-function variants (pLI >0.99), indicating that most protein-disrupting variants are likely pathogenic.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

The zinc finger protein encoded by this gene is a widely expressed member of the FOG family of transcription factors. The family members modulate the activity of GATA family proteins, which are important regulators of hematopoiesis and cardiogenesis in mammals. It has been demonstrated that the protein can both activate and down-regulate expression of GATA-target genes, suggesting different modulation in different promoter contexts. A related mRNA suggests an alternatively spliced product but this information is not yet fully supported by the sequence. [provided by RefSeq, Jul 2008]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

46XY sex reversal 9MIM #616067

Diaphragmatic hernia 3MIM #610187

Tetralogy of FallotMIM #187500

UniProt46,XY sex reversal 9

UniProtConotruncal heart malformations

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.14

LOEUF· LoF intol.

LOF

Mechanism· predicted

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GeneReview available — ZFPM2