ZFPM2: Zinc Finger Protein, FOG Family Member 2
A key transcriptional regulator in cardiac, gonadal, and hematopoietic development
Gene Information Card
| Symbol | ZFPM2 |
|---|---|
| Full Name | Zinc Finger Protein, FOG Family Member 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q23.1 |
| NCBI Gene ID | 23414 ncbi.nlm.nih.gov/gene/23414 |
| Ensembl ID | ENSG00000169946 |
| UniProt ID | Q8WW38 |
| OMIM ID | 603693 |
| HGNC ID | 16700 |
| Aliases | FOG2, ZC3H7B, hFOG-2, MGC10500 |
Description
ZFPM2 (Zinc Finger Protein, FOG Family Member 2), also known as FOG2, encodes a multi-zinc-finger protein that functions as a transcriptional cofactor for GATA transcription factors. It plays critical roles in cardiac morphogenesis, gonadal development, and hematopoiesis. Mutations in ZFPM2 are associated with congenital heart defects, 46,XY disorders of sex development, and primary ovarian insufficiency.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital heart disease (CHD) | Loss-of-function mutations impair GATA4-mediated cardiac gene regulation, leading to septal and outflow tract defects. | ClinVar, OMIM |
| 46,XY disorder of sex development (DSD) | Missense and nonsense variants disrupt testicular development pathways. | OMIM, PubMed |
| Primary ovarian insufficiency (POI) | Heterozygous mutations reduce ovarian reserve through altered GATA4/6 signaling. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Ovary | 8.3 | Medium |
| Testis | 6.7 | Medium |
| Placenta | 4.2 | Low |
| Lung | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 15.2 | High expression |
| HepG2 (liver cancer) | 9.8 | Medium |
| A549 (lung cancer) | 5.4 | Low |
| HeLa (cervical cancer) | 4.1 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2023C>T (p.Arg675*) | Nonsense | Rare | Loss of function; associated with 46,XY DSD |
| c.1477G>A (p.Gly493Arg) | Missense | Rare | Impaired GATA4 binding; linked to CHD |
| c.2542C>T (p.Arg848Trp) | Missense | Rare | Reduced transcriptional activity; POI risk |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants that truncate the protein, abolishing GATA cofactor activity.
Gain of Function (GOF)
Not reported in ZFPM2.
Dominant Negative (DN)
Missense variants that retain partial structure but disrupt normal GATA complex formation.
View complete mutation data：
Gene Ontology (GO)
| • transcription coactivator activity | • zinc ion binding |
| • nucleus | • cardiac muscle cell development |
| • gonad development | • negative regulation of transcription by RNA polymerase II |
Pathways
• GATA transcription factor network
• Cardiac progenitor differentiation
• Testis determination
Protein Summary
ZFPM2 (FOG2) is a 1,151-amino-acid nuclear protein containing multiple C2H2-type zinc fingers. It acts as a cofactor for GATA transcription factors (especially GATA4), modulating their activity in a context-dependent manner. The protein is essential for heart morphogenesis, gonadal differentiation, and hematopoietic stem cell regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZFPM2 Knockout HEK293 Cell Line | EDJ-KQ8006 | Human | 23414 | Details Get a Quote |
| ZFPM2 Knockout HeLa Cell Line | EDJ-KQ55729 | Human | 23414 | Details Get a Quote |
| ZFPM2 Knockout A-549 Cell Line | EDJ-KQ64228 | Human | 23414 | Details Get a Quote |
| ZFPM2 Knockout HCT 116 Cell Line | EDJ-KQ72673 | Human | 23414 | Details Get a Quote |
