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ZFPM2 zinc finger protein, FOG family member 2 [ Homo sapiens (human) ]

Gene ID: 23414, updated on 16-Apr-2024

Summary

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Official Symbol
ZFPM2provided by HGNC
Official Full Name
zinc finger protein, FOG family member 2provided by HGNC
Primary source
HGNC:HGNC:16700
See related
Ensembl:ENSG00000169946 MIM:603693; AllianceGenome:HGNC:16700
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DIH3; FOG2; SRXY9; ZNF89B; hFOG-2; ZC2HC11B
Summary
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]
Expression
Broad expression in ovary (RPKM 10.1), endometrium (RPKM 2.6) and 16 other tissues See more
Orthologs
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Genomic context

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See ZFPM2 in Genome Data Viewer
Location:
8q23.1
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (105318438..105804539)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (106445857..106932108)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (106330666..106816767)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 5201 Neighboring gene transmembrane and coiled-coil domain family 1 pseudogene 1 Neighboring gene VISTA enhancer hs195 Neighboring gene ribosomal protein L17 pseudogene 32 Neighboring gene uncharacterized LOC124902002 Neighboring gene uncharacterized LOC124902001 Neighboring gene uncharacterized LOC105375696 Neighboring gene VISTA enhancer hs1800 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:106725429-106725978 Neighboring gene ribosomal protein L12 pseudogene 24 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:106814445-106815644 Neighboring gene ZFPM2 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:106898552-106899078 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr8:106965782-106966981 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:107072226-107073425 Neighboring gene uncharacterized LOC124902003 Neighboring gene Sharpr-MPRA regulatory region 12229 Neighboring gene solute carrier family 16 member 14 pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Glioma Association and Balancing Selection of ZFPM2. Tsang SY, et al. PLoS One, 2015. PMID 26207917, Free PMC Article
  2. Exome sequencing identifies ZFPM2 as a cause of familial isolated congenital diaphragmatic hernia and possibly cardiovascular malformations. Brady PD, et al. Eur J Med Genet, 2014 May-Jun. PMID 24769157
  3. Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia. Longoni M, et al. Clin Genet, 2015 Apr. PMID 24702427, Free PMC Article
  4. Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination. Bashamboo A, et al. Hum Mol Genet, 2014 Jul 15. PMID 24549039
  5. Identification of novel significant variants of ZFPM2/FOG2 in non-syndromic Tetralogy of Fallot and double outlet right ventricle in a Chinese Han population. Huang X, et al. Mol Biol Rep, 2014. PMID 24469719

See all (72) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A Genomic Link From Heart Failure to Atrial Fibrillation Risk: FOG2 Modulates a TBX5/GATA4-Dependent Atrial Gene Regulatory Network.
    Title: A Genomic Link From Heart Failure to Atrial Fibrillation Risk: FOG2 Modulates a TBX5/GATA4-Dependent Atrial Gene Regulatory Network.
  2. Long noncoding RNA CCDC26 as a modulator of transcriptional switching between fetal and embryonic globins.
    Title: Long noncoding RNA CCDC26 as a modulator of transcriptional switching between fetal and embryonic globins.
  3. LncRNA ZFPM2-AS1 promotes lung adenocarcinoma progression by interacting with UPF1 to destabilize ZFPM2.
    Title: LncRNA ZFPM2-AS1 promotes lung adenocarcinoma progression by interacting with UPF1 to destabilize ZFPM2.
  4. EphA3 promotes the proliferation of NPC cells through negatively regulating the ability of FOG2.
    Title: EphA3 promotes the proliferation of NPC cells through negatively regulating the ability of FOG2.
  5. Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46,XY disorders of sex development.
    Title: Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46,XY disorders of sex development.
  6. The single nucleotide polymorphisms (SNPs) of NKX2.5, GATA4, and TBX5 are highly associated with congenital heart diseases in the Chinese population, but not significant in the SNPs of FOG2.
    Title: [Association of single nucleotide polymorphisms of transcription factors with congenital heart diseases in the Chinese population: a Meta analysis].
  7. when ZFPM2R698Q was co-transfected with GATA4, BNP promoter activity increased significantly, whereas co-transfection with ZFPM2R736L and GATA4 did not significantly increase BNP promoter activity. This suggests that the R698Q mutation may affect the ability of ZFPM2 to bind GATA4.
    Title: Identification of ZFPM2 mutations in sporadic conotruncal heart defect patients.
  8. Aberrant methylation status at the promoter CpG island shore of ZFPM2 gene may be associated with its gene transcription regulation in the tetralogy of fallot patients
    Title: CpG island shore methylation of ZFPM2 is identified in tetralogy of fallot samples.
  9. Genetic Analysis of Venous Thromboembolism in UK Biobank Identifies the ZFPM2 Locus and Implicates Obesity as a Causal Risk Factor.
    Title: Genetic Analysis of Venous Thromboembolism in UK Biobank Identifies the ZFPM2 Locus and Implicates Obesity as a Causal Risk Factor.
  10. ZFPM2 is a glioma susceptibility gene, its genotype and expression showing associations with incidence and severity. The balancing selection acting on ZFPM2 may relate to its roles in multiple organ development or associated disease etiology.
    Title: Glioma Association and Balancing Selection of ZFPM2.
Submit: New GeneRIF Correction See all GeneRIFs (30)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
46,XY sex reversal 9
MedGen: C4015129 OMIM: 616067 GeneReviews: Not available
Compare labs
Diaphragmatic hernia 3
MedGen: C1857781 OMIM: 610187 GeneReviews: Not available
Compare labs
Tetralogy of Fallot
MedGen: C0039685 OMIM: 187500 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2021-09-20)

ClinGen Genome Curation Page
Haploinsufficency

Little evidence for dosage pathogenicity (Last evaluated 2021-09-20)

ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma.
EBI GWAS Catalog
Genetics of coronary artery calcification among African Americans, a meta-analysis.
EBI GWAS Catalog
Genome-wide association study of ancestry-specific TB risk in the South African Coloured population.
EBI GWAS Catalog
GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.
EBI GWAS Catalog
Identification of cis- and trans-acting genetic variants explaining up to half the variation in circulating vascular endothelial growth factor levels.
EBI GWAS Catalog
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
EBI GWAS Catalog
New gene functions in megakaryopoiesis and platelet formation.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC129663, MGC129664

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
  
enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transcription coactivator activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables transcription corepressor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables zinc ion binding NAS
Non-traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in embryonic organ development IEA
Inferred from Electronic Annotation
more info
  
involved_in fat cell differentiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in gonadal mesoderm development IEA
Inferred from Electronic Annotation
more info
  
involved_in heart development IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in in utero embryonic development IEA
Inferred from Electronic Annotation
more info
  
involved_in lung development IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of fat cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of female gonad development IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in outflow tract septum morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of cardiac muscle cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of male gonad development IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in right ventricular cardiac muscle tissue morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in vasculogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in ventricular septum morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
part_of chromatin ISA
Inferred from Sequence Alignment
more info
  
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in male germ cell nucleus IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
zinc finger protein ZFPM2
Names
FOG-2
Friend of GATA2
friend of GATA 2
friend of GATA protein 2
transcription factor GATA4, modulator of
zinc finger protein 89B
zinc finger protein, multitype 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011723.2 RefSeqGene

    Range
    4520..490621
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001362836.2 → NP_001349765.1  zinc finger protein ZFPM2 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC041039, AL389988, BC020928, BC109222
    UniProtKB/TrEMBL
    Q32MA5
    Conserved Domains (2) summary
    sd00017
    Location:248 → 267
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam15909
    Location:245 → 349
    zf-C2H2_8; C2H2-type zinc ribbon

  2. NM_001362837.2 → NP_001349766.1  zinc finger protein ZFPM2 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AK296997, AL389988, BC020928, BC109222
    Consensus CDS
    CCDS94333.1
    UniProtKB/TrEMBL
    B7ZAW1, E7ET52
    Related
    ENSP00000430757.1, ENST00000520492.5
    Conserved Domains (2) summary
    sd00017
    Location:169 → 188
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam15909
    Location:166 → 270
    zf-C2H2_8; C2H2-type zinc ribbon

  3. NM_012082.4 → NP_036214.2  zinc finger protein ZFPM2 isoform 1

    See identical proteins and their annotated locations for NP_036214.2

    Status: REVIEWED

    Source sequence(s)
    AC041039, AL389988, BC020928, BC109222
    Consensus CDS
    CCDS47908.1
    UniProtKB/Swiss-Prot
    Q32MA6, Q8WW38, Q9NPL7, Q9NPS4, Q9UNI5
    UniProtKB/TrEMBL
    Q32MA5
    Related
    ENSP00000384179.2, ENST00000407775.7
    Conserved Domains (2) summary
    sd00017
    Location:301 → 320
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam15909
    Location:298 → 388
    zf-C2H2_8; C2H2-type zinc ribbon

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    105318438..105804539
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047421634.1 → XP_047277590.1  zinc finger protein ZFPM2 isoform X2

    UniProtKB/TrEMBL
    E7ET52

  2. XM_047421629.1 → XP_047277585.1  zinc finger protein ZFPM2 isoform X2

    UniProtKB/TrEMBL
    E7ET52

  3. XM_047421632.1 → XP_047277588.1  zinc finger protein ZFPM2 isoform X2

    UniProtKB/TrEMBL
    E7ET52

  4. XM_047421630.1 → XP_047277586.1  zinc finger protein ZFPM2 isoform X2

    UniProtKB/TrEMBL
    E7ET52

  5. XM_047421628.1 → XP_047277584.1  zinc finger protein ZFPM2 isoform X2

    UniProtKB/TrEMBL
    E7ET52

  6. XM_047421633.1 → XP_047277589.1  zinc finger protein ZFPM2 isoform X2

    UniProtKB/TrEMBL
    E7ET52
    Related
    ENSP00000428720.1, ENST00000517361.1

  7. XM_047421627.1 → XP_047277583.1  zinc finger protein ZFPM2 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    106445857..106932108
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054360201.1 → XP_054216176.1  zinc finger protein ZFPM2 isoform X2

  2. XM_054360198.1 → XP_054216173.1  zinc finger protein ZFPM2 isoform X2

  3. XM_054360199.1 → XP_054216174.1  zinc finger protein ZFPM2 isoform X2

  4. XM_054360197.1 → XP_054216172.1  zinc finger protein ZFPM2 isoform X2

  5. XM_054360200.1 → XP_054216175.1  zinc finger protein ZFPM2 isoform X2

  6. XM_054360196.1 → XP_054216171.1  zinc finger protein ZFPM2 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8WW38.3 GenPept UniProtKB/Swiss-Prot:Q8WW38

Gene LinkOut

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