GATA2 GATA binding protein 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GATA2provided by HGNC
Official Full Name: GATA binding protein 2provided by HGNC
Primary source: HGNC:HGNC:4171
See related: Ensembl:ENSG00000179348 MIM:137295; AllianceGenome:HGNC:4171
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: DCML; IMD21; NFE1B; MONOMAC
Summary: This gene encodes a member of the GATA family of zinc-finger transcription factors that are named for the consensus nucleotide sequence they bind in the promoter regions of target genes. The encoded protein plays an essential role in regulating transcription of genes involved in the development and proliferation of hematopoietic and endocrine cell lineages. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]
Expression: Broad expression in prostate (RPKM 28.7), endometrium (RPKM 17.9) and 16 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q21.3

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (128479422..128493201, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (131220983..131234760, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (128198265..128212044, complement)

Chromosome 3 - NC_000003.12 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?

Haemophagocytic lymphohistiocytosis caused by GATA2 deficiency: a report on three patients.
Title: Haemophagocytic lymphohistiocytosis caused by GATA2 deficiency: a report on three patients.
GATA2 promotes castration-resistant prostate cancer development by suppressing IFN-beta axis-mediated antitumor immunity.
Title: GATA2 promotes castration-resistant prostate cancer development by suppressing IFN-β axis-mediated antitumor immunity.
An intricate regulatory circuit between FLI1 and GATA1/GATA2/LDB1/ERG dictates erythroid vs. megakaryocytic differentiation.
Title: An intricate regulatory circuit between FLI1 and GATA1/GATA2/LDB1/ERG dictates erythroid vs. megakaryocytic differentiation.
[Clinical Characteristics and Prognosis of Acute Myeloid Leukemia Patients with GATA2 Gene Mutation].
Title: [Clinical Characteristics and Prognosis of Acute Myeloid Leukemia Patients with GATA2 Gene Mutation].
PML::RARA and GATA2 proteins interact via DNA templates to induce aberrant self-renewal in mouse and human hematopoietic cells.
Title: PML::RARA and GATA2 proteins interact via DNA templates to induce aberrant self-renewal in mouse and human hematopoietic cells.
Dysregulated expression of GATA2 and GATA6 transcription factors in adenomyosis: implications for impaired endometrial receptivity.
Title: Dysregulated expression of GATA2 and GATA6 transcription factors in adenomyosis: implications for impaired endometrial receptivity.
A novel GATA2 distal enhancer mutation results in MonoMAC syndrome in 2 second cousins.
Title: A novel GATA2 distal enhancer mutation results in MonoMAC syndrome in 2 second cousins.
Linking GATA2 to myeloid dysplasia and complex cytogenetics in adult myelodysplastic neoplasm and acute myeloid leukemia.
Title: Linking GATA2 to myeloid dysplasia and complex cytogenetics in adult myelodysplastic neoplasm and acute myeloid leukemia.
TET2 lesions enhance the aggressiveness of CEBPA-mutant acute myeloid leukemia by rebalancing GATA2 expression.
Title: TET2 lesions enhance the aggressiveness of CEBPA-mutant acute myeloid leukemia by rebalancing GATA2 expression.
Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41.
Title: Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41.

Submit: New GeneRIF Correction See all GeneRIFs (234)

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
Acute myeloid leukemia MedGen: C0023467 OMIM: 601626 GeneReviews: CEBPA-Associated Familial Acute Myeloid Leukemia (AML), ETV6 Thrombocytopenia and Predisposition to Leukemia, RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies, DDX41-Associated Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia	Compare labs
Deafness-lymphedema-leukemia syndrome MedGen: C3279664 OMIM: 614038 GeneReviews: Not available	Compare labs
Monocytopenia with susceptibility to infections MedGen: C3280030 OMIM: 614172 GeneReviews: Not available	Compare labs
Myelodysplastic syndrome MedGen: C3463824 OMIM: 614286 GeneReviews: Not available	Compare labs

Copy number response

Description
Copy number response Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2023-04-12) ClinGen Genome Curation PagePubMed Triplosensitivity No evidence available (Last evaluated 2023-04-12) ClinGen Genome Curation Page

EBI GWAS Catalog

Description
Identification of nine novel loci associated with white blood cell subtypes in a Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Multiple loci are associated with white blood cell phenotypes. EBI GWAS Catalog EBI GWAS CatalogPubMed
Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction. 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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	GATA-2 synergizes with HIV-1 Tat to enhance transcriptional activity from the HIV-1 LTR promoter	PubMed
Vif	vif	HIV-1 Vif upregulates the expression of GATA binding protein 2 (GATA2) in Vif-expression T cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GATA2_662 (e-PCR)
- UniSTS:277270

GATA2_V51 (e-PCR)
- UniSTS:277270

SHGC-77315 (e-PCR)
- UniSTS:38447

RH76244 (e-PCR)
- UniSTS:89726

D3S3103 (e-PCR)
- UniSTS:50073

PMC58532P1 (e-PCR)
- UniSTS:273367

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables C2H2 zinc finger domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables transcription coactivator binding	IEA Inferred from Electronic Annotation more info
enables transcription coregulator binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in GABAergic neuron differentiation	IEA Inferred from Electronic Annotation more info
involved_in brown fat cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in cell differentiation in hindbrain	IEA Inferred from Electronic Annotation more info
involved_in cell fate commitment	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell fate determination	IEA Inferred from Electronic Annotation more info
involved_in central nervous system neuron development	IEA Inferred from Electronic Annotation more info
involved_in cochlea development	IEA Inferred from Electronic Annotation more info
involved_in commitment of neuronal cell to specific neuron type in forebrain	IEA Inferred from Electronic Annotation more info
involved_in definitive hemopoiesis	IEA Inferred from Electronic Annotation more info
involved_in embryonic placenta development	IEA Inferred from Electronic Annotation more info
involved_in eosinophil fate commitment	IDA Inferred from Direct Assay more info	PubMed
involved_in fat cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glandular epithelial cell maturation	IEA Inferred from Electronic Annotation more info
involved_in hematopoietic progenitor cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in hematopoietic stem cell homeostasis	IEA Inferred from Electronic Annotation more info
involved_in homeostasis of number of cells within a tissue	IEA Inferred from Electronic Annotation more info
involved_in inner ear morphogenesis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of Notch signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of brown fat cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of endothelial cell apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of hematopoietic progenitor cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of macrophage differentiation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of neural precursor cell proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of neuroblast proliferation	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 neuroblast proliferation	IEA Inferred from Electronic Annotation more info
involved_in neuron maturation	IEA Inferred from Electronic Annotation more info
involved_in neuron migration	IEA Inferred from Electronic Annotation more info
involved_in phagocytosis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of angiogenesis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of angiogenesis	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of blood vessel endothelial cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell migration involved in sprouting angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cytosolic calcium ion concentration	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of erythrocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of mast cell degranulation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of megakaryocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of miRNA transcription	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of miRNA transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of miRNA transcription	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of neuron differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of phagocytosis	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of phagocytosis, engulfment	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
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of forebrain neuron differentiation	IEA Inferred from Electronic Annotation more info
involved_in regulation of primitive erythrocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in response to lipid	IEA Inferred from Electronic Annotation more info
involved_in semicircular canal development	IEA Inferred from Electronic Annotation more info
involved_in somatic stem cell population maintenance	IEA Inferred from Electronic Annotation more info
involved_in thyroid-stimulating hormone-secreting cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in urogenital system development	IEA Inferred from Electronic Annotation more info
involved_in vascular wound healing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ventral spinal cord interneuron differentiation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
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
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of transcription regulator complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: endothelial transcription factor GATA-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_029334.1 RefSeqGene

Range

5001..18766

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_295

mRNA and Protein(s)

NM_001145661.2 → NP_001139133.1 endothelial transcription factor GATA-2 isoform 1

See identical proteins and their annotated locations for NP_001139133.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript. Both variants 1 and 2 encode the same isoform (1).

Source sequence(s)

AC080005, AI524325, AK314826, BC015613

Consensus CDS

CCDS3049.1

UniProtKB/Swiss-Prot

D3DNB3, P23769, Q53YE0, Q96BH0, Q96BH8, Q9BUJ6

UniProtKB/TrEMBL

A0A8Q3WLD0

Related

ENSP00000417074.1, ENST00000487848.6

Conserved Domains (1) summary

cd00202
Location:349 → 398

ZnF_GATA; Zinc finger DNA binding domain; binds specifically to DNA consensus sequence [AT]GATA[AG] promoter elements; a subset of family members may also bind protein; zinc-finger consensus topology is C-X(2)-C-X(17)-C-X(2)-C
NM_001145662.1 → NP_001139134.1 endothelial transcription factor GATA-2 isoform 2

See identical proteins and their annotated locations for NP_001139134.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate splice site in the CDS but maintains the reading frame, compared to variant 1. This variant encodes isoform 2, which is shorter than isoform 1.

Source sequence(s)

AI524325, BC015577, BC015613, DA837371

Consensus CDS

CCDS46903.1

UniProtKB/TrEMBL

A0A8Q3WLD0

Related

ENSP00000400259.2, ENST00000430265.6

Conserved Domains (1) summary

cd00202
Location:294 → 336

ZnF_GATA; Zinc finger DNA binding domain; binds specifically to DNA consensus sequence [AT]GATA[AG] promoter elements; a subset of family members may also bind protein; zinc-finger consensus topology is C-X(2)-C-X(17)-C-X(2)-C
NM_032638.5 → NP_116027.2 endothelial transcription factor GATA-2 isoform 1

See identical proteins and their annotated locations for NP_116027.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (1).

Source sequence(s)

AC080005, BC002557, BC051342

Consensus CDS

CCDS3049.1

UniProtKB/Swiss-Prot

D3DNB3, P23769, Q53YE0, Q96BH0, Q96BH8, Q9BUJ6

UniProtKB/TrEMBL

A0A8Q3WLD0

Related

ENSP00000345681.2, ENST00000341105.7

Conserved Domains (1) summary

cd00202
Location:349 → 398

ZnF_GATA; Zinc finger DNA binding domain; binds specifically to DNA consensus sequence [AT]GATA[AG] promoter elements; a subset of family members may also bind protein; zinc-finger consensus topology is C-X(2)-C-X(17)-C-X(2)-C