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

    Gene ID: 23414, updated on 23-Nov-2023

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_001362836.2NP_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:248267
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam15909
      Location:245349
      zf-C2H2_8; C2H2-type zinc ribbon
    2. NM_001362837.2NP_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:169188
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam15909
      Location:166270
      zf-C2H2_8; C2H2-type zinc ribbon
    3. NM_012082.4NP_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:301320
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam15909
      Location:298388
      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_047421634.1XP_047277590.1  zinc finger protein ZFPM2 isoform X2

      UniProtKB/TrEMBL
      B7ZAW1, E7ET52
    2. XM_047421629.1XP_047277585.1  zinc finger protein ZFPM2 isoform X2

      UniProtKB/TrEMBL
      B7ZAW1, E7ET52
    3. XM_047421632.1XP_047277588.1  zinc finger protein ZFPM2 isoform X2

      UniProtKB/TrEMBL
      B7ZAW1, E7ET52
    4. XM_047421630.1XP_047277586.1  zinc finger protein ZFPM2 isoform X2

      UniProtKB/TrEMBL
      B7ZAW1, E7ET52
    5. XM_047421628.1XP_047277584.1  zinc finger protein ZFPM2 isoform X2

      UniProtKB/TrEMBL
      B7ZAW1, E7ET52
    6. XM_047421633.1XP_047277589.1  zinc finger protein ZFPM2 isoform X2

      UniProtKB/TrEMBL
      B7ZAW1, E7ET52
      Related
      ENSP00000428720.1, ENST00000517361.1
    7. XM_047421627.1XP_047277583.1  zinc finger protein ZFPM2 isoform X1

      UniProtKB/TrEMBL
      B7ZAW1

    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_054360201.1XP_054216176.1  zinc finger protein ZFPM2 isoform X2

      UniProtKB/TrEMBL
      B7ZAW1
    2. XM_054360198.1XP_054216173.1  zinc finger protein ZFPM2 isoform X2

      UniProtKB/TrEMBL
      B7ZAW1
    3. XM_054360199.1XP_054216174.1  zinc finger protein ZFPM2 isoform X2

      UniProtKB/TrEMBL
      B7ZAW1
    4. XM_054360197.1XP_054216172.1  zinc finger protein ZFPM2 isoform X2

      UniProtKB/TrEMBL
      B7ZAW1
    5. XM_054360200.1XP_054216175.1  zinc finger protein ZFPM2 isoform X2

      UniProtKB/TrEMBL
      B7ZAW1
    6. XM_054360196.1XP_054216171.1  zinc finger protein ZFPM2 isoform X1

      UniProtKB/TrEMBL
      B7ZAW1