ZFPM2 Gene (Protein Coding)

Zinc Finger Protein, FOG Family Member 2

GC08P104590
GIFtS:
42
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, suggest... See more...

Aliases for ZFPM2 Gene

Aliases for ZFPM2 Gene

  • Zinc Finger Protein, FOG Family Member 2 2 3 5
  • Zinc Finger Protein, Multitype 2 2 3
  • Zinc Finger Protein ZFPM2 3 4
  • Friend Of GATA Protein 2 3 4
  • Zinc Finger Protein 89B 3 4
  • Friend Of GATA 2 3 4
  • ZNF89B 3 4
  • HFOG-2 3 4
  • FOG-2 3 4
  • FOG2 3 4
  • Transcription Factor GATA4, Modulator Of 3
  • Zinc Finger Protein Multitype 2 4
  • Friend Of GATA2 3
  • ZC2HC11B 3
  • SRXY9 3
  • DIH3 3

External Ids for ZFPM2 Gene

Previous GeneCards Identifiers for ZFPM2 Gene

  • GC08P106398
  • GC08P105999
  • GC08P106287
  • GC08P106400
  • GC08P101532
  • GC08P106330

Summaries for ZFPM2 Gene

Entrez Gene Summary for ZFPM2 Gene

  • 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]

GeneCards Summary for ZFPM2 Gene

ZFPM2 (Zinc Finger Protein, FOG Family Member 2) is a Protein Coding gene. Diseases associated with ZFPM2 include 46,Xy Sex Reversal 9 and Diaphragmatic Hernia 3. Among its related pathways are Factors involved in megakaryocyte development and platelet production and MicroRNAs in cancer. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and transcription corepressor activity. An important paralog of this gene is ZFPM1.

UniProtKB/Swiss-Prot Summary for ZFPM2 Gene

  • 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).

Gene Wiki entry for ZFPM2 Gene

Additional gene information for ZFPM2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ZFPM2 Gene

Genomics for ZFPM2 Gene

GeneHancer (GH) Regulatory Elements for ZFPM2 Gene

Promoters and enhancers for ZFPM2 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH08J105316 Promoter/Enhancer 2.6 VISTA UCNEbase EPDnew Ensembl ENCODE CraniofacialAtlas 750 +729.0 729014 6.1 SMARCE1 CC2D1A ELF1 L3MBTL2 DACH1 TEAD4 ZC3H8 BCL6B ZNF148 MLLT1 ZFPM2 HSALNG0067583 ENSG00000243171 RPL17P32 lnc-LRP12-9
GH08J105517 Enhancer 1.1 Ensembl ENCODE 10.5 +928.6 928631 4.5 SMARCE1 CC2D1A L3MBTL2 DACH1 TEAD4 MLLT1 CBFA2T2 SP7 ZSCAN21 PRDM1 ZFPM2 MF281432-011 lnc-LRP12-12
GH08J105243 Enhancer 1 Ensembl ENCODE 10.8 +653.2 653168 1.8 ZBTB40 SMARCE1 CC2D1A L3MBTL2 TEAD4 GTF2F1 MLLT1 CBFA2T2 NCOA6 SMARCA4 ZFPM2 hsa-miR-1273e-078 RF00994-1085
GH08J105534 Enhancer 0.6 ENCODE 15.2 +944.5 944517 1.8 PRDM1 IKZF1 PKNOX1 HES1 MTA2 ZNF512B ZKSCAN1 GATAD2A NONO GATAD2B ZFPM2 lnc-LRP12-12 MF281432-011
GH08J105337 Enhancer 0.6 Ensembl 11.8 +746.5 746468 0.4 TEAD4 ZNF148 IKZF1 EP300 EHMT2 MEF2D NCOR1 NFIC DPF2 ZNF592 ZFPM2 HSALNG0067583 lnc-LRP12-9 ENSG00000243171 RPL17P32
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ZFPM2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ZFPM2 gene promoter:
  • Chx10
  • ER-alpha
  • GATA-1
  • NF-1
  • p300
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)

Genomic Locations for ZFPM2 Gene

Genomic Locations for ZFPM2 Gene
chr8:104,590,733-105,804,539
(GRCh38/hg38)
Size:
1,213,807 bases
Orientation:
Plus strand
chr8:106,330,920-106,816,767
(GRCh37/hg19)
Size:
485,848 bases
Orientation:
Plus strand

Genomic View for ZFPM2 Gene

Genes around ZFPM2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZFPM2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZFPM2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ZFPM2 Gene

Proteins for ZFPM2 Gene

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  • Protein details for ZFPM2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WW38-FOG2_HUMAN
    Recommended name:
    Zinc finger protein ZFPM2
    Protein Accession:
    Q8WW38
    Secondary Accessions:
    • Q32MA6
    • Q9NPL7
    • Q9NPS4
    • Q9UNI5

    Protein attributes for ZFPM2 Gene

    Size:
    1151 amino acids
    Molecular mass:
    128159 Da
    Quaternary 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). Interacts with ATOH8; mediates indirect interaction with GATA4 (By similarity).

    Alternative splice isoforms for ZFPM2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ZFPM2 Gene

Protein Expression for ZFPM2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for ZFPM2 Gene

  • Sumoylation reduces transcriptional repression activity.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ZFPM2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for ZFPM2

No data available for DME Specific Peptides for ZFPM2 Gene

Domains & Families for ZFPM2 Gene

Gene Families for ZFPM2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for ZFPM2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ZFPM2 Gene

GenScript: Design optimal peptide antigens:
  • Zinc finger protein multitype 2 (FOG2_HUMAN)
  • Zinc finger protein, multitype 2 (Q32MA5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8WW38

UniProtKB/Swiss-Prot:

FOG2_HUMAN :
  • The CCHC FOG-type zinc fingers 1, 2, 3 and 5 directly bind to GATA-type zinc fingers. The Tyr residue adjacent to the last Cys of the CCHC FOG-type zinc finger is essential for the interaction with GATA-type zinc fingers (By similarity).
  • Belongs to the FOG (Friend of GATA) family.
Domain:
  • The CCHC FOG-type zinc fingers 1, 2, 3 and 5 directly bind to GATA-type zinc fingers. The Tyr residue adjacent to the last Cys of the CCHC FOG-type zinc finger is essential for the interaction with GATA-type zinc fingers (By similarity).
Family:
  • Belongs to the FOG (Friend of GATA) family.
genes like me logo Genes that share domains with ZFPM2: view

Function for ZFPM2 Gene

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Molecular function for ZFPM2 Gene

UniProtKB/Swiss-Prot 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).

Phenotypes From GWAS Catalog for ZFPM2 Gene

Gene Ontology (GO) - Molecular Function for ZFPM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0001085 RNA polymerase II transcription factor binding IBA,IEA 21873635
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0003713 transcription coactivator activity NAS 10438528
genes like me logo Genes that share ontologies with ZFPM2: view
genes like me logo Genes that share phenotypes with ZFPM2: view

Human Phenotype Ontology for ZFPM2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ZFPM2 Gene

MGI Knock Outs for ZFPM2:

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ZFPM2 Gene

Localization for ZFPM2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZFPM2 Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ZFPM2 gene
Compartment Confidence
nucleus 5
cytosol 2
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ZFPM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005654 nucleoplasm IDA,TAS --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with ZFPM2: view

Pathways & Interactions for ZFPM2 Gene

genes like me logo Genes that share pathways with ZFPM2: view

Pathways by source for ZFPM2 Gene

1 KEGG pathway for ZFPM2 Gene

SIGNOR curated interactions for ZFPM2 Gene

Inactivates:

Gene Ontology (GO) - Biological Process for ZFPM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IBA 21873635
GO:0001570 vasculogenesis IEA --
GO:0001701 in utero embryonic development IEA --
GO:0003148 outflow tract septum morphogenesis IMP 20807224
GO:0003221 right ventricular cardiac muscle tissue morphogenesis IMP 20807224
genes like me logo Genes that share ontologies with ZFPM2: view

Drugs & Compounds for ZFPM2 Gene

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  1. Drug

(1) Drugs for ZFPM2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with ZFPM2: view

Transcripts for ZFPM2 Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
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mRNA/cDNA for ZFPM2 Gene

(3) REFSEQ mRNAs :
(12) Additional mRNA sequences :
(35) Selected AceView cDNA sequences:
(10) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ZFPM2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
SP1: - - -
SP2:

Relevant External Links for ZFPM2 Gene

GeneLoc Exon Structure for
ZFPM2
ECgene alternative splicing isoforms for
ZFPM2

Expression for ZFPM2 Gene

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  1. Primer
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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ZFPM2 Gene

mRNA expression in normal human tissues for ZFPM2 Gene
mRNA expression by GTEx for ZFPM2 GenemRNA expression by BioGPS for ZFPM2 Gene

mRNA differential expression in normal tissues according to GTEx for ZFPM2 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x6.5) and Brain - Cerebellum (x4.7).

Protein differential expression in normal tissues from HIPED for ZFPM2 Gene

This gene is overexpressed in Fetal testis (55.7) and Adipocyte (13.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ZFPM2 Gene



Protein tissue co-expression partners for ZFPM2 Gene

NURSA nuclear receptor signaling pathways regulating expression of ZFPM2 Gene:

ZFPM2

SOURCE GeneReport for Unigene cluster for ZFPM2 Gene:

Hs.431009

mRNA Expression by UniProt/SwissProt for ZFPM2 Gene:

Q8WW38-FOG2_HUMAN
Tissue specificity: Widely expressed at low level.

Evidence on tissue expression from TISSUES for ZFPM2 Gene

  • Heart(2.3)
  • Muscle(2.1)
  • Nervous system(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ZFPM2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • lip
  • nose
  • outer ear
  • pituitary gland
  • skull
Thorax:
  • breast
  • clavicle
  • diaphragm
  • heart
  • heart valve
  • lung
Abdomen:
  • intestine
  • large intestine
  • liver
  • small intestine
  • stomach
Pelvis:
  • fallopian tube
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • urethra
  • uterus
  • vagina
  • vas deferens
  • vulva
Limb:
  • arm
  • digit
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • humerus
  • lower limb
  • radius
  • shin
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
General:
  • hair
  • skin
genes like me logo Genes that share expression patterns with ZFPM2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for ZFPM2 Gene

Orthologs for ZFPM2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ZFPM2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia ZFPM2 33 32
  • 99.54 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia ZFPM2 33 32
  • 91.6 (n)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia ZFPM2 33
  • 91 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia ZFPM2 33 32
  • 90.86 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Zfpm2 32
  • 89.57 (n)
mouse
(Mus musculus)
 Mammalia Zfpm2 17 33 32
  • 89.08 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia ZFPM2 33
  • 88 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves ZFPM2 33 32
  • 83.52 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia ZFPM2 33
  • 85 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia zfpm2 32
  • 75.18 (n)
zebrafish
(Danio rerio)
 Actinopterygii zfpm2a 33 32
  • 66.46 (n)
 OneToMany
zfpm2b 33
  • 45 (a)
 OneToMany
Species where no ortholog for ZFPM2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ZFPM2 Gene

ENSEMBL:
Gene Tree for ZFPM2 (if available)
TreeFam:
Gene Tree for ZFPM2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ZFPM2: view image

Paralogs for ZFPM2 Gene

Paralogs for ZFPM2 Gene

genes like me logo Genes that share paralogs with ZFPM2: view

Variants for ZFPM2 Gene

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Sequence variations from dbSNP and Humsavar for ZFPM2 Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs113289249 benign, 46,XY sex reversal 9 105,802,583(+) A/G coding_sequence_variant, missense_variant
rs117908591 benign, 46,XY sex reversal 9 105,802,369(+) G/A coding_sequence_variant, missense_variant
rs11993776 benign, not specified, - 105,801,290(+) C/G coding_sequence_variant, missense_variant
rs121908601 pathogenic, likely-benign, Tetralogy of Fallot, Double outlet right ventricle, Diaphragmatic hernia 3, 46,XY sex reversal 9, Conotruncal heart malformations (CTHM) [MIM:217095], Tetralogy of Fallot (TOF) [MIM:187500] 105,419,192(+) A/C/G 5_prime_UTR_variant, coding_sequence_variant, intron_variant, missense_variant
rs121908602 pathogenic, Diaphragmatic hernia 3 105,561,395(+) C/T 5_prime_UTR_variant, coding_sequence_variant, stop_gained

Structural Variations from Database of Genomic Variants (DGV) for ZFPM2 Gene

Variant ID Type Subtype PubMed ID
dgv12252n54 CNV loss 21841781
dgv3872n106 CNV deletion 24896259
dgv3873n106 CNV deletion 24896259
esv1230300 CNV deletion 17803354
esv1637363 CNV insertion 17803354
esv1968574 CNV deletion 18987734
esv2318733 CNV deletion 18987734
esv2357213 CNV deletion 18987734
esv23851 CNV loss 19812545
esv2571877 CNV deletion 19546169
esv2643906 CNV deletion 19546169
esv2660166 CNV deletion 23128226
esv2667745 CNV deletion 23128226
esv2670397 CNV deletion 23128226
esv2674317 CNV deletion 23128226
esv2676076 CNV deletion 23128226
esv26932 CNV loss 19812545
esv2737391 CNV deletion 23290073
esv2737392 CNV deletion 23290073
esv2737393 CNV deletion 23290073
esv2737394 CNV deletion 23290073
esv3206 CNV loss 18987735
esv3306668 CNV mobile element insertion 20981092
esv3339978 CNV insertion 20981092
esv3355346 CNV insertion 20981092
esv3438024 CNV insertion 20981092
esv3543960 CNV deletion 23714750
esv3543961 CNV deletion 23714750
esv3618286 CNV loss 21293372
esv3618288 CNV loss 21293372
esv3618290 CNV loss 21293372
esv3618291 CNV loss 21293372
esv3891455 CNV loss 25118596
esv9123 CNV loss 19470904
esv988675 CNV deletion 20482838
nsv1034972 CNV gain 25217958
nsv1075160 CNV deletion 25765185
nsv1075572 CNV deletion 25765185
nsv1076101 CNV deletion 25765185
nsv1109980 CNV deletion 24896259
nsv1142699 CNV deletion 24896259
nsv1147300 CNV deletion 26484159
nsv1149560 CNV deletion 26484159
nsv1153230 CNV deletion 26484159
nsv1161786 CNV deletion 26073780
nsv395924 CNV deletion 16902084
nsv396362 CNV deletion 16902084
nsv472001 CNV novel sequence insertion 20440878
nsv474373 CNV novel sequence insertion 20440878
nsv510163 OTHER sequence alteration 20534489
nsv510164 OTHER sequence alteration 20534489
nsv521187 CNV loss 19592680
nsv525601 CNV gain 19592680
nsv611837 CNV loss 21841781
nsv6339 CNV insertion 18451855
nsv831418 CNV gain 17160897
nsv951461 CNV deletion 24416366

Variation tolerance for ZFPM2 Gene

Residual Variation Intolerance Score: 46.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.02; 84.21% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ZFPM2 Gene

Human Gene Mutation Database (HGMD)
ZFPM2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZFPM2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZFPM2 Gene

Disorders for ZFPM2 Gene

MalaCards: The human disease database

(16) MalaCards diseases for ZFPM2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search ZFPM2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FOG2_HUMAN
  • 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:0000269 PubMed:14517948, ECO:0000269 PubMed:20807224}. 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:0000269 PubMed:16103912}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 46,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.
  • Conotruncal 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.

Additional Disease Information for ZFPM2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ZFPM2: view

No data available for Genatlas for ZFPM2 Gene

Publications for ZFPM2 Gene

  1. hFOG-2, a novel zinc finger protein, binds the co-repressor mCtBP2 and modulates GATA-mediated activation. (PMID: 10438528) Holmes M … Chong B (The Journal of biological chemistry 1999) 2 3 4 56
  2. Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination. (PMID: 24549039) Bashamboo A … McElreavey K (Human molecular genetics 2014) 3 4 56
  3. New gene functions in megakaryopoiesis and platelet formation. (PMID: 22139419) Gieger C … Soranzo N (Nature 2011) 3 43 56
  4. Identification of cis- and trans-acting genetic variants explaining up to half the variation in circulating vascular endothelial growth factor levels. (PMID: 21757650) Debette S … Seshadri S (Circulation research 2011) 3 43 56
  5. New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle. (PMID: 20807224) De Luca A … Dallapiccola B (Clinical genetics 2011) 3 4 56

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