FOG2 Antibody – Rabbit

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]

FOG2: 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. Defects in ZFPM2 may be a cause of tetralogy of Fallot (TOF). 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. Defects in ZFPM2 are the cause of diaphragmatic hernia 3 (DIH3); 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. Belongs to the FOG (Friend of GATA) family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Nuclear receptor co-regulator; C2H2-type zinc finger protein

Chromosomal Location of Human Ortholog: 8q23

Cellular Component: nucleoplasm; cytoplasm; nucleus

Molecular Function: protein binding; DNA binding; zinc ion binding; transcription factor binding; transcription corepressor activity

Biological Process: transcription, DNA-dependent; in utero embryonic development; gonadal mesoderm development; embryonic organ development; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription from RNA polymerase II promoter; vasculogenesis; negative regulation of fat cell differentiation; negative regulation of transcription, DNA-dependent; blood coagulation; lung development

Disease: Tetralogy Of Fallot; 46,xy Sex Reversal 9; Diaphragmatic Hernia 3