InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ZFPM2

Summary

InnateDB Protein

IDBP-295563.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ZFPM2

Protein Name

zinc finger protein, multitype 2

Synonyms

DIH3; FOG2; hFOG-2; ZC2HC11B; ZNF89B;

Species

Homo sapiens

Ensembl Protein

ENSP00000384179

InnateDB Gene

IDBG-32130 (ZFPM2)

Protein Structure

UniProt Annotation

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). {ECO:0000250}.

Subcellular Localization

Nucleus {ECO:0000269PubMed:23226341}.

Disease Associations

Tetralogy 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:0000269PubMed:14517948}. Note=The disease may be caused by mutations affecting the gene represented in this entry.Diaphragmatic 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:0000269PubMed:16103912}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=ZFPM2 mutations have been found in patients with complete or partial gonadal dysgenesis, and are probably associated with 46,XY disorders of sex development. {ECO:0000269PubMed:24549039}.

Tissue Specificity

Widely expressed at low level. {ECO:0000269PubMed:10438528}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 15 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	15 [view]
Protein-Protein	15 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0001071	nucleic acid binding transcription factor activity
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:0007507	heart development
GO:0007596	blood coagulation
GO:0030324	lung development
GO:0045087	innate immune response (InnateDB)
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: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