Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q8WW38 (FOG2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 103. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Zinc finger protein ZFPM2
Alternative name(s):
Friend of GATA protein 2
Short name=FOG-2
Short name=Friend of GATA 2
Short name=hFOG-2
Zinc finger protein 89B
Zinc finger protein multitype 2
Gene names
Name:ZFPM2
Synonyms:FOG2, ZNF89B
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1151 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

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. Ref.1

Subunit structure

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. Ref.1

Subcellular location

Nucleus Ref.4.

Tissue specificity

Widely expressed at low level. Ref.1

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.

Post-translational modification

Sumoylation reduces transcriptional repression activity. Ref.4

Involvement in disease

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.
Note: The disease may be caused by mutations affecting the gene represented in this entry. Ref.5

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.

Sequence similarities

Belongs to the FOG (Friend of GATA) family.

Contains 3 C2H2-type zinc fingers.

Contains 5 C2HC-type zinc fingers.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseCardiomyopathy
Disease mutation
   DomainRepeat
Zinc-finger
   LigandDNA-binding
Metal-binding
Zinc
   Molecular functionActivator
Repressor
   PTMIsopeptide bond
Ubl conjugation
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processblood coagulation

Traceable author statement. Source: Reactome

embryonic organ development

Inferred from electronic annotation. Source: Ensembl

in utero embryonic development

Inferred from electronic annotation. Source: Ensembl

lung development

Inferred from electronic annotation. Source: Ensembl

negative regulation of cell death

Inferred from electronic annotation. Source: Ensembl

negative regulation of fat cell differentiation

Inferred from mutant phenotype PubMed 20705609. Source: UniProtKB

negative regulation of female gonad development

Inferred from electronic annotation. Source: Ensembl

negative regulation of transcription from RNA polymerase II promoter

Inferred from electronic annotation. Source: Ensembl

negative regulation of transcription, DNA-templated

Inferred from direct assay PubMed 20206639. Source: UniProtKB

outflow tract septum morphogenesis

Inferred from mutant phenotype PubMed 20807224. Source: BHF-UCL

positive regulation of male gonad development

Inferred from electronic annotation. Source: Ensembl

positive regulation of transcription from RNA polymerase II promoter

Inferred from direct assay Ref.1. Source: BHF-UCL

right ventricular cardiac muscle tissue morphogenesis

Inferred from mutant phenotype PubMed 20807224. Source: BHF-UCL

vasculogenesis

Inferred from electronic annotation. Source: Ensembl

ventricular septum morphogenesis

Inferred from mutant phenotype PubMed 20807224. Source: BHF-UCL

   Cellular_componentcytoplasm

Inferred from electronic annotation. Source: Ensembl

nucleoplasm

Traceable author statement. Source: Reactome

   Molecular_functionDNA binding

Inferred from electronic annotation. Source: UniProtKB-KW

RNA polymerase II transcription coactivator activity

Non-traceable author statement Ref.1. Source: BHF-UCL

nucleic acid binding transcription factor activity

Inferred from electronic annotation. Source: Ensembl

protein binding

Inferred from physical interaction PubMed 19723756PubMed 20705609PubMed 21220346. Source: UniProtKB

transcription corepressor activity

Inferred from direct assay Ref.1. Source: BHF-UCL

transcription factor binding

Inferred from physical interaction Ref.1. Source: BHF-UCL

zinc ion binding

Non-traceable author statement Ref.1. Source: BHF-UCL

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8WW38-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q8WW38-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-132: Missing.
     247-287: KDIFPCKSCG...REAAPVSEEN → SKCSVLCSPA...FFLQKKKKKK
Note: Sequence incomplete. No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 11511151Zinc finger protein ZFPM2
PRO_0000221043

Regions

Zinc finger250 – 27324C2HC-type 1
Zinc finger296 – 32025C2H2-type 1
Zinc finger335 – 35723C2H2-type 2
Zinc finger363 – 38523C2H2-type 3
Zinc finger548 – 57124C2HC-type 2
Zinc finger687 – 71024C2HC-type 3
Zinc finger854 – 87724C2HC-type 4
Zinc finger1119 – 114224C2HC-type 5
Region829 – 8357Interaction with CTBP2 Probable
Motif736 – 7405Nuclear localization signal By similarity

Amino acid modifications

Cross-link324Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1) Ref.4
Cross-link471Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1) Ref.4
Cross-link915Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1) Ref.4
Cross-link955Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1) Ref.4

Natural variations

Alternative sequence1 – 132132Missing in isoform 2.
VSP_009701
Alternative sequence247 – 28741KDIFP…VSEEN → SKCSVLCSPALEVMGIYGRK KCLLTRNQEQTFFLQKKKKK K in isoform 2.
VSP_009702
Natural variant301E → G in TOF; in one patient with sporadic TOF; does not affect its ability to interact with GATA4. Ref.5
Corresponds to variant rs121908601 [ dbSNP | Ensembl ].
VAR_017942
Natural variant4031A → G.
Corresponds to variant rs11993776 [ dbSNP | Ensembl ].
VAR_024178
Natural variant6571S → G in TOF; in one patient with sporadic TOF; slightly impairs its ability to interact with GATA4. Ref.5
Corresponds to variant rs28374544 [ dbSNP | Ensembl ].
VAR_017943
Natural variant7821E → D.
Corresponds to variant rs2920048 [ dbSNP | Ensembl ].
VAR_017944
Natural variant10551A → V.
Corresponds to variant rs16873741 [ dbSNP | Ensembl ].
VAR_030760

Experimental info

Sequence conflict1981F → L in CAB97541. Ref.3
Sequence conflict9391L → P in AAD49558. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified February 20, 2007. Version 3.
Checksum: 680E31BA1D044C35

FASTA1,151128,159
        10         20         30         40         50         60 
MSRRKQSKPR QIKRPLEDAI EDEEEECPSE ETDIISKGDF PLEESFSTEF GPENLSCEEV 

        70         80         90        100        110        120 
EYFCNKGDDE GIQETAESDG DTQSEKPGQP GVETDDWDGP GELEVFQKDG ERKIQSRQQL 

       130        140        150        160        170        180 
PVGTTWGPFP GKMDLNNNSL KTKAQVPMVL TAGPKWLLDV TWQGVEDNKN NCIVYSKGGQ 

       190        200        210        220        230        240 
LWCTTTKAIS EGEELIAFVV DFDSRLQAAS QMTLTEGMYP ARLLDSIQLL PQQAAMASIL 

       250        260        270        280        290        300 
PTAIVNKDIF PCKSCGIWYR SERNLQAHLM YYCSGRQREA APVSEENEDS AHQISSLCPF 

       310        320        330        340        350        360 
PQCTKSFSNA RALEMHLNSH SGVKMEEFLP PGASLKCTVC SYTADSVINF HQHLFSHLTQ 

       370        380        390        400        410        420 
AAFRCNHCHF GFQTQRELLQ HQELHVPSGK LPRESDMEHS PSATEDSLQP ATDLLTRSEL 

       430        440        450        460        470        480 
PQSQKAMQTK DASSDTELDK CEKKTQLFLT NQRPEIQPTT NKQSFSYTKI KSEPSSPRLA 

       490        500        510        520        530        540 
SSPVQPNIGP SFPVGPFLSQ FSFPQDITMV PQASEILAKM SELVHRRLRH GSSSYPPVIY 

       550        560        570        580        590        600 
SPLMPKGATC FECNITFNNL DNYLVHKKHY CSSRWQQMAK SPEFPSVSEK MPEALSPNTG 

       610        620        630        640        650        660 
QTSINLLNPA AHSADPENPL LQTSCINSST VLDLIGPNGK GHDKDFSTQT KKLSTSSNND 

       670        680        690        700        710        720 
DKINGKPVDV KNPSVPLVDG ESDPNKTTCE ACNITFSRHE TYMVHKQYYC ATRHDPPLKR 

       730        740        750        760        770        780 
SASNKVPAMQ RTMRTRKRRK MYEMCLPEQE QRPPLVQQRF LDVANLNNPC TSTQEPTEGL 

       790        800        810        820        830        840 
GECYHPRCDI FPGIVSKHLE TSLTINKCVP VSKCDTTHSS VSCLEMDVPI DLSKKCLSQS 

       850        860        870        880        890        900 
ERTTTSPKRL LDYHECTVCK ISFNKVENYL AHKQNFCPVT AHQRNDLGQL DGKVFPNPES 

       910        920        930        940        950        960 
ERNSPDVSYE RSIIKCEKNG NLKQPSPNGN LFSSHLATLQ GLKVFSEAAQ LIATKEENRH 

       970        980        990       1000       1010       1020 
LFLPQCLYPG AIKKAKGADQ LSPYYGIKPS DYISGSLVIH NTDIEQSRNA ENESPKGQAS 

      1030       1040       1050       1060       1070       1080 
SNGCAALKKD SLPLLPKNRG MVIVNGGLKQ DERPAANPQQ ENISQNPQHE DDHKSPSWIS 

      1090       1100       1110       1120       1130       1140 
ENPLAANENV SPGIPSAEEQ LSSIAKGVNG SSQAPTSGKY CRLCDIQFNN LSNFITHKKF 

      1150 
YCSSHAAEHV K 

« Hide

Isoform 2 [UniParc].

Checksum: A4365593BE3B4476
Show »

FASTA1,019113,229

References

« Hide 'large scale' references
[1]"hFOG-2, a novel zinc finger protein, binds the co-repressor mCtBP2 and modulates GATA-mediated activation."
Holmes M., Turner J., Fox A.H., Chisholm O., Crossley M., Chong B.
J. Biol. Chem. 274:23491-23498(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, TISSUE SPECIFICITY, INTERACTION WITH CTBP2, POSSIBLE INTERACTION WITH GATA1.
Tissue: Erythroleukemia.
[2]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Prostate.
[3]The European IMAGE consortium
Submitted (JUL-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-287 (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 641-1151 (ISOFORM 1).
[4]"SUMOylation regulates the transcriptional repression activity of FOG-2 and its association with GATA-4."
Perdomo J., Jiang X.M., Carter D.R., Khachigian L.M., Chong B.H.
PLoS ONE 7:E50637-E50637(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: SUMOYLATION AT LYS-324; LYS-471; LYS-915 AND LYS-955, SUBCELLULAR LOCATION.
[5]"Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot."
Pizzuti A., Sarkozy A., Newton A.L., Conti E., Flex E., Digilio M.C., Amati F., Gianni D., Tandoi C., Marino B., Crossley M., Dallapiccola B.
Hum. Mutat. 22:372-377(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS TOF GLY-30 AND GLY-657.
[6]"Fog2 is required for normal diaphragm and lung development in mice and humans."
Ackerman K.G., Herron B.J., Vargas S.O., Huang H., Tevosian S.G., Kochilas L., Rao C., Pober B.R., Babiuk R.P., Epstein J.A., Greer J.J., Beier D.R.
PLoS Genet. 1:58-65(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN DIAPHRAGMATIC HERNIA 3.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF119334 mRNA. Translation: AAD49558.1.
BC020928 mRNA. Translation: AAH20928.1.
BC109222 mRNA. Translation: AAI09223.1.
AL389987 mRNA. Translation: CAB97539.1.
AL389989 mRNA. Translation: CAB97541.1.
CCDSCCDS47908.1. [Q8WW38-1]
RefSeqNP_036214.2. NM_012082.3. [Q8WW38-1]
UniGeneHs.431009.

3D structure databases

ProteinModelPortalQ8WW38.
SMRQ8WW38. Positions 248-391, 543-575.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid116986. 13 interactions.
IntActQ8WW38. 2 interactions.
STRING9606.ENSP00000384179.

PTM databases

PhosphoSiteQ8WW38.

Polymorphism databases

DMDM126302543.

Proteomic databases

PaxDbQ8WW38.
PRIDEQ8WW38.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000407775; ENSP00000384179; ENSG00000169946. [Q8WW38-1]
GeneID23414.
KEGGhsa:23414.
UCSCuc003ymd.3. human. [Q8WW38-1]

Organism-specific databases

CTD23414.
GeneCardsGC08P106400.
HGNCHGNC:16700. ZFPM2.
HPAHPA004094.
MIM187500. phenotype.
603693. gene.
610187. phenotype.
neXtProtNX_Q8WW38.
Orphanet2140. Congenital diaphragmatic hernia.
3303. Tetralogy of Fallot.
PharmGKBPA134947303.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG146797.
HOGENOMHOG000057275.
HOVERGENHBG048953.
InParanoidQ8WW38.
KOK17442.
OMADPNKTTC.
OrthoDBEOG74TWXR.
PhylomeDBQ8WW38.
TreeFamTF331342.

Enzyme and pathway databases

ReactomeREACT_604. Hemostasis.

Gene expression databases

ArrayExpressQ8WW38.
BgeeQ8WW38.
CleanExHS_ZFPM2.
GenevestigatorQ8WW38.

Family and domain databases

Gene3D3.30.160.60. 1 hit.
InterProIPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
PfamPF00096. zf-C2H2. 1 hit.
[Graphical view]
SMARTSM00355. ZnF_C2H2. 8 hits.
[Graphical view]
PROSITEPS00028. ZINC_FINGER_C2H2_1. 2 hits.
PS50157. ZINC_FINGER_C2H2_2. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSZFPM2. human.
GeneWikiZFPM2.
GenomeRNAi23414.
NextBio45615.
PROQ8WW38.
SOURCESearch...

Entry information

Entry nameFOG2_HUMAN
AccessionPrimary (citable) accession number: Q8WW38
Secondary accession number(s): Q32MA6 expand/collapse secondary AC list , Q9NPL7, Q9NPS4, Q9UNI5
Entry history
Integrated into UniProtKB/Swiss-Prot: March 15, 2004
Last sequence update: February 20, 2007
Last modified: July 9, 2014
This is version 103 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 8

Human chromosome 8: entries, gene names and cross-references to MIM