Human Gene ZFPM2 (ENST00000407775.7) Description and Page Index
Description: Homo sapiens zinc finger protein, FOG family member 2 (ZFPM2), transcript variant 1, mRNA. (from RefSeq NM_012082) RefSeq Summary (NM_012082): 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]. Gencode Transcript: ENST00000407775.7 Gencode Gene: ENSG00000169946.14 Transcript (Including UTRs) Position: hg38 chr8:105,318,438-105,804,539 Size: 486,102 Total Exon Count: 8 Strand: + Coding Region Position: hg38 chr8:105,318,942-105,803,538 Size: 484,597 Coding Exon Count: 8
ID:FOG2_HUMAN DESCRIPTION: RecName: Full=Zinc finger protein ZFPM2; AltName: Full=Friend of GATA protein 2; Short=FOG-2; Short=Friend of GATA 2; Short=hFOG-2; AltName: Full=Zinc finger protein 89B; AltName: Full=Zinc finger protein multitype 2; FUNCTION: 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). SUBUNIT: Interacts with the N-terminal zinc-finger of GATA4, GATA5 and probably GATA6. Interacts with retinoid nuclear receptor RXRA when ligand bound (By similarity). Interacts with corepressor CTBP2; this interaction is however not essential for corepressor activity. Able to bind GATA1 in vitro. Interacts with NR2F2 and NR2F6 (By similarity). SUBCELLULAR LOCATION: Nucleus (By similarity). TISSUE SPECIFICITY: Widely expressed at low level. DOMAIN: The CCHC-type zinc fingers 1, 5, 6 and 8 directly bind to GATA-type zinc fingers. The Tyr residue adjacent to the last Cys of the CCHC-type zinc finger is essential for the interaction with GATA-type zinc fingers (By similarity). DISEASE: Defects in ZFPM2 may be a cause of tetralogy of Fallot (TOF) [MIM:187500]. TOF is a congenital heart anomaly which consists of pulmonary stenosis, ventricular septal defect, dextroposition of the aorta (aorta is on the right side instead of the left) and hypertrophy of the right ventricle. This condition results in a blue baby at birth due to inadequate oxygenation. Surgical correction is emergent. DISEASE: Defects in ZFPM2 are the cause of diaphragmatic hernia 3 (DIH3) [MIM:610187]; a form of congenital diaphragmatic hernia (CDH). CDH refers to a group of congenital defects in the structural integrity of the diaphragm associated with often lethal pulmonary hypoplasia and pulmonary hypertension. SIMILARITY: Belongs to the FOG (Friend of GATA) family. SIMILARITY: Contains 3 C2H2-type zinc fingers. SIMILARITY: Contains 5 C2HC-type zinc fingers.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q8WW38
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0001085 RNA polymerase II transcription factor binding GO:0001105 RNA polymerase II transcription coactivator activity GO:0003676 nucleic acid binding GO:0003677 DNA binding GO:0003714 transcription corepressor activity GO:0005515 protein binding GO:0008134 transcription factor binding GO:0008270 zinc ion binding GO:0046872 metal ion binding
Biological Process: GO:0000122 negative regulation of transcription from RNA polymerase II promoter GO:0001570 vasculogenesis GO:0001701 in utero embryonic development GO:0003148 outflow tract septum morphogenesis GO:0003221 right ventricular cardiac muscle tissue morphogenesis GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006366 transcription from RNA polymerase II promoter GO:0007506 gonadal mesoderm development GO:0007507 heart development GO:0007596 blood coagulation GO:0030154 cell differentiation GO:0030324 lung development GO:0045599 negative regulation of fat cell differentiation GO:0045892 negative regulation of transcription, DNA-templated GO:0045893 positive regulation of transcription, DNA-templated GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:0048568 embryonic organ development GO:0048738 cardiac muscle tissue development GO:0060045 positive regulation of cardiac muscle cell proliferation GO:0060412 ventricular septum morphogenesis GO:0060548 negative regulation of cell death GO:2000020 positive regulation of male gonad development GO:2000195 negative regulation of female gonad development