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Gene

ZFPM2

zinc finger protein, FOG family member 2

Summary

Cytogenetic location
8q23
Coordinates
Chromosome 8: 105,318,438–105,804,539 (GRCh38)
Exons
8 exons across 486.1 kb
Protein
1,151 amino acids
Inheritance
Autosomal dominant
Also known as
PRDM19, FOG2, hFOG-2, ZNF89B
MANE Select transcript
ENST00000407775.7NM_012082.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • 46,XY Differences of Sex Development and Gonadal Dysgenesis

    • 46,XY complete gonadal dysgenesis (Swyer syndrome)

      A condition in which people with XY chromosomes have undeveloped streak gonads and a female appearance, caused by variants in SRY, NR5A1, MAP3K1, DHH and other genes.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Streak gonads carry a high risk of gonadoblastoma, so removal is usually recommended, and hormone replacement is needed for puberty.

    • 46,XY differences of sex development

      Conditions in people with XY chromosomes in which gonadal or genital development is atypical, caused by variants in genes such as SRD5A2, HSD17B3, NR5A1, MAP3K1, DHH, WT1, CYP11A1 and LHCGR.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Diagnosis informs hormone treatment, fertility counselling and, where dysgenetic gonads carry Y material, assessment of gonadal tumour risk.

  • Congenital Diaphragmatic Hernia (Monogenic)

    • Congenital Diaphragmatic Hernia

      Incomplete formation of the diaphragm present at birth, which in a minority of families is linked to single genes such as ZFPM2, GATA4, NR2F2, ALDH1A2 or PLS3, often with incomplete penetrance.

      • ClinGen rates the link definitive
      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing is mainly relevant to family planning, as it can inform recurrence risk and the option of prenatal imaging in a future pregnancy.

  • Tetralogy of Fallot

    • Autosomal dominant

      Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.

      • 1 GenCC submitter rates it definitive or strong

Broader groupings

  • Hypertrophic Cardiomyopathy

    • Autosomal dominant

      One of 62 genes linked to it

      A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Beta-blockers, non-dihydropyridine calcium channel blockers, activity restriction, genetic counseling

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How ZFPM2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 8, with a bracket where ZFPM2 sits. ZFPM2 and 1 gene near it on chromosome 8, from 104,832,336 to 106,290,641.Chromosome 88q23p23.3p23.2p23.1p22p21.3p21.2p21.1p12p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.3q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.3105 Mb105.2 Mb105.4 Mb105.6 Mb105.8 Mb106 Mb106.2 MbZFPM2: 105,318,438–105,804,539, forward strandZFPM2OXR1: 106,270,112–106,752,711, forward strandOXR1Diagram of ZFPM2: 8 exons on the forward strand of chromosome 8Exon 2: 1 known disease-causing siteExon 4: 1 known disease-causing siteExon 7: 2 known disease-causing sitesExon 8: 1 known disease-causing siteExon 1: 105,318,438–105,318,981, 544 basesExon 2: 105,419,144–105,419,302, 159 basesExon 3: 105,444,280–105,444,381, 102 basesExon 4: 105,561,363–105,561,481, 119 basesExon 5: 105,634,246–105,634,357, 112 basesExon 6: 105,788,718–105,788,924, 207 basesExon 7: 105,798,724–105,798,948, 225 basesExon 8: 105,801,047–105,804,539, 3,493 bases124685′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 5 kb of the gene's 486.1 kb; 3,456 of those bases code for the protein.

How a genome test reads ZFPM2

6

positions in ZFPM2 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 486.1 kb of ZFPM2, introns included, not only the 5 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). ZFPM2 gene: zinc finger protein, FOG family member 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/zfpm2

Vancouver

Dante Labs. ZFPM2 gene: zinc finger protein, FOG family member 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/zfpm2

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