MGP Database

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MGP004662

UniProt Annotations

Entry Information
Gene Namezinc finger protein, FOG family member 2
Protein EntryFOG2_HUMAN
UniProt IDQ8WW38
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8WW38-1; Sequence=Displayed; Name=2; IsoId=Q8WW38-2; Sequence=VSP_009701, VSP_009702; Note=Sequence incomplete. No experimental confirmation available.;
Disease46,XY sex reversal 9 (SRXY9) [MIM:616067]: A disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females or have ambiguous external genitalia. {ECO:0000269|PubMed:24549039}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseConotruncal heart malformations (CTHM) [MIM:217095]: A group of congenital heart defects involving the outflow tracts. Examples include truncus arteriosus communis, double-outlet right ventricle and transposition of great arteries. Truncus arteriosus communis is characterized by a single outflow tract instead of a separate aorta and pulmonary artery. In transposition of the great arteries, the aorta arises from the right ventricle and the pulmonary artery from the left ventricle. In double outlet of the right ventricle, both the pulmonary artery and aorta arise from the right ventricle. {ECO:0000269|PubMed:20807224}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseDiaphragmatic hernia 3 (DIH3) [MIM:610187]: 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. {ECO:0000269|PubMed:16103912}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseTetralogy of Fallot (TOF) [MIM:187500]: 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. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing cyanosis. {ECO:0000269|PubMed:14517948, ECO:0000269|PubMed:20807224}. Note=The disease may be caused by mutations affecting the gene represented in this entry.
DomainThe 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). {ECO:0000250}.
FunctionTranscription 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). {ECO:0000250}.
PtmSumoylation reduces transcriptional repression activity. {ECO:0000269|PubMed:23226341}.
SimilarityBelongs to the FOG (Friend of GATA) family. {ECO:0000305}.
SimilarityContains 3 C2H2-type zinc fingers. {ECO:0000255|PROSITE-ProRule:PRU00042}.
SimilarityContains 5 C2HC-type zinc fingers. {ECO:0000305}.
Subcellular LocationNucleus {ECO:0000269|PubMed:23226341}.
SubunitInteracts 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). {ECO:0000250}.
Tissue SpecificityWidely expressed at low level. {ECO:0000269|PubMed:10438528}.
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