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ZFPM2

Chr 8q23

zinc finger protein, FOG family member 2

Aliases:
PRDM19, FOG2, hFOG-2, ZNF89B
MANE:
ENST00000407775.7

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Differences in sex development

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Fetal anomalies

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Familial non syndromic congenital heart disease

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Paediatric disorders - additional genes

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • 46,XY partial gonadal dysgenesis

    0.72
  • diaphragmatic hernia 3

    0.64
  • Tetralogy of Fallot

    0.58
  • conotruncal heart malformations

    0.56
  • atrial fibrillation

    0.50
  • double outlet right ventricle

    0.49
  • hypertensive disorder

    0.46
  • breast carcinoma

    0.45
  • neurodegenerative disease

    0.45
  • venous thromboembolism

    0.44

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Zinc finger protein ZFPM2

Transcription regulator that plays a central role in heart morphogenesis and development of coronary vessels from epicardium, by regulating genes that are essential during cardiogenesis. Essential cofactor that acts via the formation of a heterodimer with transcription factors of the GATA family GATA4, GATA5 and GATA6. Such heterodimer can both activate or repress transcriptional activity, depending on the cell and promoter context. Also required in gonadal differentiation, possibly be regulating expression of SRY. Probably acts a corepressor of NR2F2 (By similarity)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.