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Q8WW38

- FOG2_HUMAN

UniProt

Q8WW38 - FOG2_HUMAN

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Protein

Zinc finger protein ZFPM2

Gene
ZFPM2, FOG2, ZNF89B
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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.1 Publication

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri250 – 27324C2HC-type 1Add
BLAST
Zinc fingeri296 – 32025C2H2-type 1Add
BLAST
Zinc fingeri335 – 35723C2H2-type 2Add
BLAST
Zinc fingeri363 – 38523C2H2-type 3Add
BLAST
Zinc fingeri548 – 57124C2HC-type 2Add
BLAST
Zinc fingeri687 – 71024C2HC-type 3Add
BLAST
Zinc fingeri854 – 87724C2HC-type 4Add
BLAST
Zinc fingeri1119 – 114224C2HC-type 5Add
BLAST

GO - Molecular functioni

  1. DNA binding Source: UniProtKB-KW
  2. nucleic acid binding transcription factor activity Source: Ensembl
  3. protein binding Source: UniProtKB
  4. RNA polymerase II transcription coactivator activity Source: BHF-UCL
  5. transcription corepressor activity Source: BHF-UCL
  6. transcription factor binding Source: BHF-UCL
  7. zinc ion binding Source: BHF-UCL

GO - Biological processi

  1. blood coagulation Source: Reactome
  2. embryonic organ development Source: Ensembl
  3. in utero embryonic development Source: Ensembl
  4. lung development Source: Ensembl
  5. negative regulation of cell death Source: Ensembl
  6. negative regulation of fat cell differentiation Source: UniProtKB
  7. negative regulation of female gonad development Source: Ensembl
  8. negative regulation of transcription, DNA-templated Source: UniProtKB
  9. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
  10. outflow tract septum morphogenesis Source: BHF-UCL
  11. positive regulation of male gonad development Source: Ensembl
  12. positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  13. right ventricular cardiac muscle tissue morphogenesis Source: BHF-UCL
  14. vasculogenesis Source: Ensembl
  15. ventricular septum morphogenesis Source: BHF-UCL
Complete GO annotation...

Keywords - Molecular functioni

Activator, Repressor

Keywords - Biological processi

Differentiation, Gonadal differentiation, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Metal-binding, Zinc

Enzyme and pathway databases

ReactomeiREACT_24970. Factors involved in megakaryocyte development and platelet production.

Names & Taxonomyi

Protein namesi
Recommended 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 namesi
Name:ZFPM2
Synonyms:FOG2, ZNF89B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 8

Organism-specific databases

HGNCiHGNC:16700. ZFPM2.

Subcellular locationi

Nucleus 1 Publication

GO - Cellular componenti

  1. cytoplasm Source: Ensembl
  2. nucleoplasm Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti30 – 301E → G in TOF; does not affect its ability to interact with GATA4.
Corresponds to variant rs121908601 [ dbSNP | Ensembl ].
VAR_017942
Natural varianti657 – 6571S → G in TOF; slightly impairs its ability to interact with GATA4.
Corresponds to variant rs28374544 [ dbSNP | Ensembl ].
VAR_017943
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.
ZFPM2 mutations have been found in patients with complete or partial gonadal dysgenesis, and are probably associated with 46,XY disorders of sex development (1 Publication).

Keywords - Diseasei

Cardiomyopathy, Disease mutation

Organism-specific databases

MIMi187500. phenotype.
610187. phenotype.
Orphaneti2140. Congenital diaphragmatic hernia.
3303. Tetralogy of Fallot.
PharmGKBiPA134947303.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 11511151Zinc finger protein ZFPM2PRO_0000221043Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Cross-linki324 – 324Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)1 Publication
Cross-linki471 – 471Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)1 Publication
Cross-linki915 – 915Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)1 Publication
Cross-linki955 – 955Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)1 Publication

Post-translational modificationi

Sumoylation reduces transcriptional repression activity.1 Publication

Keywords - PTMi

Isopeptide bond, Ubl conjugation

Proteomic databases

PaxDbiQ8WW38.
PRIDEiQ8WW38.

PTM databases

PhosphoSiteiQ8WW38.

Expressioni

Tissue specificityi

Widely expressed at low level.1 Publication

Gene expression databases

ArrayExpressiQ8WW38.
BgeeiQ8WW38.
CleanExiHS_ZFPM2.
GenevestigatoriQ8WW38.

Organism-specific databases

HPAiHPA004094.

Interactioni

Subunit structurei

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.1 Publication

Protein-protein interaction databases

BioGridi116986. 13 interactions.
IntActiQ8WW38. 2 interactions.
STRINGi9606.ENSP00000384179.

Structurei

3D structure databases

ProteinModelPortaliQ8WW38.
SMRiQ8WW38. Positions 248-391, 543-575.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni829 – 8357Interaction with CTBP2 Inferred

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi736 – 7405Nuclear localization signal By similarity

Domaini

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.

Sequence similaritiesi

Zinc finger

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri250 – 27324C2HC-type 1Add
BLAST
Zinc fingeri296 – 32025C2H2-type 1Add
BLAST
Zinc fingeri335 – 35723C2H2-type 2Add
BLAST
Zinc fingeri363 – 38523C2H2-type 3Add
BLAST
Zinc fingeri548 – 57124C2HC-type 2Add
BLAST
Zinc fingeri687 – 71024C2HC-type 3Add
BLAST
Zinc fingeri854 – 87724C2HC-type 4Add
BLAST
Zinc fingeri1119 – 114224C2HC-type 5Add
BLAST

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiNOG146797.
HOGENOMiHOG000057275.
HOVERGENiHBG048953.
InParanoidiQ8WW38.
KOiK17442.
OMAiDPNKTTC.
OrthoDBiEOG74TWXR.
PhylomeDBiQ8WW38.
TreeFamiTF331342.

Family and domain databases

Gene3Di3.30.160.60. 1 hit.
InterProiIPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
PfamiPF00096. zf-C2H2. 1 hit.
[Graphical view]
SMARTiSM00355. ZnF_C2H2. 8 hits.
[Graphical view]
PROSITEiPS00028. ZINC_FINGER_C2H2_1. 2 hits.
PS50157. ZINC_FINGER_C2H2_2. 2 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q8WW38-1) [UniParc]FASTAAdd to Basket

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.

« Hide

MSRRKQSKPR QIKRPLEDAI EDEEEECPSE ETDIISKGDF PLEESFSTEF     50
GPENLSCEEV EYFCNKGDDE GIQETAESDG DTQSEKPGQP GVETDDWDGP 100
GELEVFQKDG ERKIQSRQQL PVGTTWGPFP GKMDLNNNSL KTKAQVPMVL 150
TAGPKWLLDV TWQGVEDNKN NCIVYSKGGQ LWCTTTKAIS EGEELIAFVV 200
DFDSRLQAAS QMTLTEGMYP ARLLDSIQLL PQQAAMASIL PTAIVNKDIF 250
PCKSCGIWYR SERNLQAHLM YYCSGRQREA APVSEENEDS AHQISSLCPF 300
PQCTKSFSNA RALEMHLNSH SGVKMEEFLP PGASLKCTVC SYTADSVINF 350
HQHLFSHLTQ AAFRCNHCHF GFQTQRELLQ HQELHVPSGK LPRESDMEHS 400
PSATEDSLQP ATDLLTRSEL PQSQKAMQTK DASSDTELDK CEKKTQLFLT 450
NQRPEIQPTT NKQSFSYTKI KSEPSSPRLA SSPVQPNIGP SFPVGPFLSQ 500
FSFPQDITMV PQASEILAKM SELVHRRLRH GSSSYPPVIY SPLMPKGATC 550
FECNITFNNL DNYLVHKKHY CSSRWQQMAK SPEFPSVSEK MPEALSPNTG 600
QTSINLLNPA AHSADPENPL LQTSCINSST VLDLIGPNGK GHDKDFSTQT 650
KKLSTSSNND DKINGKPVDV KNPSVPLVDG ESDPNKTTCE ACNITFSRHE 700
TYMVHKQYYC ATRHDPPLKR SASNKVPAMQ RTMRTRKRRK MYEMCLPEQE 750
QRPPLVQQRF LDVANLNNPC TSTQEPTEGL GECYHPRCDI FPGIVSKHLE 800
TSLTINKCVP VSKCDTTHSS VSCLEMDVPI DLSKKCLSQS ERTTTSPKRL 850
LDYHECTVCK ISFNKVENYL AHKQNFCPVT AHQRNDLGQL DGKVFPNPES 900
ERNSPDVSYE RSIIKCEKNG NLKQPSPNGN LFSSHLATLQ GLKVFSEAAQ 950
LIATKEENRH LFLPQCLYPG AIKKAKGADQ LSPYYGIKPS DYISGSLVIH 1000
NTDIEQSRNA ENESPKGQAS SNGCAALKKD SLPLLPKNRG MVIVNGGLKQ 1050
DERPAANPQQ ENISQNPQHE DDHKSPSWIS ENPLAANENV SPGIPSAEEQ 1100
LSSIAKGVNG SSQAPTSGKY CRLCDIQFNN LSNFITHKKF YCSSHAAEHV 1150
K 1151
Length:1,151
Mass (Da):128,159
Last modified:February 20, 2007 - v3
Checksum:i680E31BA1D044C35
GO
Isoform 2 (identifier: Q8WW38-2) [UniParc]FASTAAdd to Basket

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.

Show »
Length:1,019
Mass (Da):113,229
Checksum:iA4365593BE3B4476
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti30 – 301E → G in TOF; does not affect its ability to interact with GATA4.
Corresponds to variant rs121908601 [ dbSNP | Ensembl ].
VAR_017942
Natural varianti260 – 2601R → Q Probable disease-associated mutation found in a patient with a disorder of sex development; results in reduced transactivation activity on the AMH promoter; reduced interaction with GATA4.
VAR_071104
Natural varianti402 – 4021S → R Probable disease-associated mutation found in a patient with a disorder of sex development; results in reduced transactivation activity on the AMH promoter; loss of interaction with GATA4.
VAR_071105
Natural varianti403 – 4031A → G.
Corresponds to variant rs11993776 [ dbSNP | Ensembl ].
VAR_024178
Natural varianti657 – 6571S → G in TOF; slightly impairs its ability to interact with GATA4.
Corresponds to variant rs28374544 [ dbSNP | Ensembl ].
VAR_017943
Natural varianti782 – 7821E → D.
Corresponds to variant rs2920048 [ dbSNP | Ensembl ].
VAR_017944
Natural varianti1055 – 10551A → V.
Corresponds to variant rs16873741 [ dbSNP | Ensembl ].
VAR_030760

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 132132Missing in isoform 2. VSP_009701Add
BLAST
Alternative sequencei247 – 28741KDIFP…VSEEN → SKCSVLCSPALEVMGIYGRK KCLLTRNQEQTFFLQKKKKK K in isoform 2. VSP_009702Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti198 – 1981F → L in CAB97541. 1 Publication
Sequence conflicti939 – 9391L → P in AAD49558. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS47908.1. [Q8WW38-1]
RefSeqiNP_036214.2. NM_012082.3. [Q8WW38-1]
UniGeneiHs.431009.

Genome annotation databases

EnsembliENST00000407775; ENSP00000384179; ENSG00000169946. [Q8WW38-1]
GeneIDi23414.
KEGGihsa:23414.
UCSCiuc003ymd.3. human. [Q8WW38-1]

Polymorphism databases

DMDMi126302543.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS47908.1. [Q8WW38-1 ]
RefSeqi NP_036214.2. NM_012082.3. [Q8WW38-1 ]
UniGenei Hs.431009.

3D structure databases

ProteinModelPortali Q8WW38.
SMRi Q8WW38. Positions 248-391, 543-575.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 116986. 13 interactions.
IntActi Q8WW38. 2 interactions.
STRINGi 9606.ENSP00000384179.

PTM databases

PhosphoSitei Q8WW38.

Polymorphism databases

DMDMi 126302543.

Proteomic databases

PaxDbi Q8WW38.
PRIDEi Q8WW38.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000407775 ; ENSP00000384179 ; ENSG00000169946 . [Q8WW38-1 ]
GeneIDi 23414.
KEGGi hsa:23414.
UCSCi uc003ymd.3. human. [Q8WW38-1 ]

Organism-specific databases

CTDi 23414.
GeneCardsi GC08P106400.
HGNCi HGNC:16700. ZFPM2.
HPAi HPA004094.
MIMi 187500. phenotype.
603693. gene.
610187. phenotype.
neXtProti NX_Q8WW38.
Orphaneti 2140. Congenital diaphragmatic hernia.
3303. Tetralogy of Fallot.
PharmGKBi PA134947303.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG146797.
HOGENOMi HOG000057275.
HOVERGENi HBG048953.
InParanoidi Q8WW38.
KOi K17442.
OMAi DPNKTTC.
OrthoDBi EOG74TWXR.
PhylomeDBi Q8WW38.
TreeFami TF331342.

Enzyme and pathway databases

Reactomei REACT_24970. Factors involved in megakaryocyte development and platelet production.

Miscellaneous databases

ChiTaRSi ZFPM2. human.
GeneWikii ZFPM2.
GenomeRNAii 23414.
NextBioi 45615.
PROi Q8WW38.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q8WW38.
Bgeei Q8WW38.
CleanExi HS_ZFPM2.
Genevestigatori Q8WW38.

Family and domain databases

Gene3Di 3.30.160.60. 1 hit.
InterProi IPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view ]
Pfami PF00096. zf-C2H2. 1 hit.
[Graphical view ]
SMARTi SM00355. ZnF_C2H2. 8 hits.
[Graphical view ]
PROSITEi PS00028. ZINC_FINGER_C2H2_1. 2 hits.
PS50157. ZINC_FINGER_C2H2_2. 2 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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 in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination."
    Bashamboo A., Brauner R., Bignon-Topalovic J., Lortat-Jacob S., Karageorgou V., Lourenco D., Guffanti A., McElreavey K.
    Hum. Mol. Genet. 23:3657-3665(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH GATA4, PROBABLE INVOLVEMENT IN DISORDERS OF SEX DEVELOPMENT, VARIANTS GLN-260; ARG-402; GLY-403 AND ASP-782, CHARACTERIZATION OF VARIANTS GLN-260 AND ARG-402.
  6. Cited for: VARIANTS TOF GLY-30 AND GLY-657.
  7. Cited for: INVOLVEMENT IN DIAPHRAGMATIC HERNIA 3.

Entry informationi

Entry nameiFOG2_HUMAN
AccessioniPrimary (citable) accession number: Q8WW38
Secondary accession number(s): Q32MA6
, Q9NPL7, Q9NPS4, Q9UNI5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 15, 2004
Last sequence update: February 20, 2007
Last modified: September 3, 2014
This is version 104 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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