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

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: mouse all
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Genomic context

Location:: 8q23.1

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (105318438..105804539)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (106445857..106932108)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (106330666..106816767)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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].
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.
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.
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.
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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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	not available
Diaphragmatic hernia 3 MedGen: C1857781 OMIM: 610187 GeneReviews: Not available	not available
Tetralogy of Fallot MedGen: C0039685 OMIM: 187500 GeneReviews: Not available	not available

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH93255 (e-PCR)
- UniSTS:92422

D8S1487 (e-PCR)
- UniSTS:46349

SHGC-83420 (e-PCR)
- UniSTS:101920

D8S1897 (e-PCR)
- UniSTS:40745

D8S2005 (e-PCR)
- UniSTS:63020

RH48595 (e-PCR)
- UniSTS:72752

RH68588 (e-PCR)
- UniSTS:69440

A007K30 (e-PCR)
- UniSTS:16736

SHGC-110826 (e-PCR)
- UniSTS:168039

SHGC-85791 (e-PCR)
- UniSTS:103802

RH18423 (e-PCR)
- UniSTS:62633

D8S1768 (e-PCR), detects polymorphism
- UniSTS:15809

G49581 (e-PCR)
- UniSTS:109250

RH79250 (e-PCR)
- UniSTS:81606

D8S1703 (e-PCR), detects polymorphism
- UniSTS:77817

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
located_in 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

NG_011723.2 RefSeqGene

Range

4520..490621

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

105318438..105804539

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

E7ET52
XM_047421629.1 → XP_047277585.1 zinc finger protein ZFPM2 isoform X2

UniProtKB/TrEMBL

E7ET52
XM_047421632.1 → XP_047277588.1 zinc finger protein ZFPM2 isoform X2

UniProtKB/TrEMBL

E7ET52
XM_047421630.1 → XP_047277586.1 zinc finger protein ZFPM2 isoform X2

UniProtKB/TrEMBL

E7ET52
XM_047421628.1 → XP_047277584.1 zinc finger protein ZFPM2 isoform X2

UniProtKB/TrEMBL

E7ET52
XM_047421633.1 → XP_047277589.1 zinc finger protein ZFPM2 isoform X2

UniProtKB/TrEMBL

E7ET52

Related

ENSP00000428720.1, ENST00000517361.1
XM_047421627.1 → XP_047277583.1 zinc finger protein ZFPM2 isoform X1