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 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesGeneReviewsMethods
Data last updated at UCSC: 2021-01-14 15:32:12

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:105,318,438-105,804,539)mRNA (may differ from genome)Protein (1151 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDLynxMGIneXtProtOMIMPubMed
ReactomeUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  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.

-  MalaCards Disease Associations
  MalaCards Gene Search: ZFPM2
Diseases sorted by gene-association score: 46xy sex reversal 9* (1200), diaphragmatic hernia 3* (1019), tetralogy of fallot* (435), conotruncal heart malformations* (300), 46,xy partial gonadal dysgenesis* (247), congenital diaphragmatic hernia* (43), tricuspid atresia (23), diaphragm disease (10), diaphragmatic eventration (10), ventricular septal defect (8), transposition of the great arteries (8), gonadal dysgenesis (6), heart septal defect (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 18.01 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 145.45 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -204.40504-0.406 Picture PostScript Text
3' UTR -221.301001-0.221 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007087 - Znf_C2H2
IPR015880 - Znf_C2H2-like
IPR013087 - Znf_C2H2/integrase_DNA-bd

Pfam Domains:
PF00096 - Zinc finger, C2H2 type

ModBase Predicted Comparative 3D Structure on Q8WW38
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  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

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm


-  Descriptions from all associated GenBank mRNAs
  BC109222 - Homo sapiens zinc finger protein, multitype 2, mRNA (cDNA clone MGC:129663 IMAGE:40008872), complete cds.
BC109223 - Homo sapiens zinc finger protein, multitype 2, mRNA (cDNA clone MGC:129664 IMAGE:40008873), complete cds.
AF119334 - Homo sapiens zinc finger protein FOG-2 mRNA, complete cds.
AK296997 - Homo sapiens cDNA FLJ55306 complete cds, highly similar to Zinc finger protein ZFPM2.
AL389989 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 1555880.
AK316426 - Homo sapiens cDNA, FLJ79325 complete cds, highly similar to Zinc finger protein ZFPM2.
AK303058 - Homo sapiens cDNA FLJ59826 complete cds, highly similar to Zinc finger protein ZFPM2.
JD462428 - Sequence 443452 from Patent EP1572962.
KP189192 - Homo sapiens ZFPM2-ELF5 fusion protein mRNA, partial cds.
AB073894 - Homo sapiens primary neuroblastoma cDNA, clone:Nbla03139, full insert sequence.
AL389987 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 774050.
BC020928 - Homo sapiens, clone IMAGE:4251288, mRNA, partial cds.
AL389988 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 2005278.
AL389974 - Homo sapiens EST from clone 38347, 5' end.
JD557821 - Sequence 538845 from Patent EP1572962.
JD225480 - Sequence 206504 from Patent EP1572962.
JD286410 - Sequence 267434 from Patent EP1572962.
JD313368 - Sequence 294392 from Patent EP1572962.
JD084862 - Sequence 65886 from Patent EP1572962.
JD236873 - Sequence 217897 from Patent EP1572962.
JD305680 - Sequence 286704 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q8WW38 (Reactome details) participates in the following event(s):

R-HSA-996755 ZFPM proteins bind GATA proteins
R-HSA-983231 Factors involved in megakaryocyte development and platelet production
R-HSA-109582 Hemostasis

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000407775.1, ENST00000407775.2, ENST00000407775.3, ENST00000407775.4, ENST00000407775.5, ENST00000407775.6, FOG2, FOG2_HUMAN, NM_012082, Q32MA6, Q8WW38, Q9NPL7, Q9NPS4, Q9UNI5, uc003ymd.1, uc003ymd.2, uc003ymd.3, uc003ymd.4, uc003ymd.5, ZNF89B
UCSC ID: ENST00000407775.7
RefSeq Accession: NM_012082
Protein: Q8WW38 (aka FOG2_HUMAN)
CCDS: CCDS47908.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene ZFPM2:
cdh-ov (Congenital Diaphragmatic Hernia Overview)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.