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

Gene ID: 23414, updated on 7-Jun-2020

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
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

Genomic context

See ZFPM2 in Genome Data Viewer
Location:
8q23.1
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (105318438..105804539)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (106330917..106816767)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes 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 LOC105375696 Neighboring gene VISTA enhancer hs1800 Neighboring gene ribosomal protein L12 pseudogene 24 Neighboring gene ZFPM2 antisense RNA 1 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 (2012-04-04)

ClinGen Genome Curation Page
Haploinsufficency

Some evidence for dosage pathogenicity (Last evaluated (2012-04-04)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC129663, MGC129664

Gene Ontology Provided by GOA

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

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)

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
    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
    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
    Q8WW38
    UniProtKB/TrEMBL
    Q9NPQ0
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011516947.3XP_011515249.1  zinc finger protein ZFPM2 isoform X1

    Conserved Domains (2) summary
    sd00017
    Location:291310
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam15909
    Location:288378
    zf-C2H2_8; C2H2-type zinc ribbon
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