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

Summary

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Official Symbol: GATA2provided by HGNC
Official Full Name: GATA binding protein 2provided by HGNC
Primary source: HGNC:4171
See related: Ensembl:ENSG00000179348; HPRD:00673; MIM:137295; Vega:OTTHUMG00000159689
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; 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]

Genomic context

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Location :: 3q21.3

Sequence :: Chromosome: 3; NC_000003.11 (128198265..128212030, complement)

See GATA2 in Epigenomics, MapViewer

Chromosome 3 - NC_000003.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

Authors show that the cytomegalovirus UL144 gene is expressed during latent infection in two cell types of the myeloid lineage, CD34(+) and CD14(+) monocytes, and that the UL144 protein is functional in latently infected monocytes.
Title: The myeloid transcription factor GATA-2 regulates the viral UL144 gene during human cytomegalovirus latency in an isolate-specific manner.
Transcriptional regulators cooperate to establish or maintain primitive stem cell-like signatures in leukemic cells.
Title: Activity of a heptad of transcription factors is associated with stem cell programs and clinical outcome in acute myeloid leukemia.
SON protein regulates GATA-2 through transcriptional control of the microRNA 23a~27a~24-2 cluster
Title: SON protein regulates GATA-2 through transcriptional control of the microRNA 23a~27a~24-2 cluster.
GATA2 mutations with with biallelic CEBPA mutations are associated are frequent in intermediate-risk karyotype acute myeloid leukemia.
Title: GATA2 mutations are frequent in intermediate-risk karyotype AML with biallelic CEBPA mutations and are associated with favorable prognosis.
High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia.
Title: High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia.
GATA-2 directly regulates HOXB4 expression in hematopoietic stem cells, which may play an important role in the development and/or progression of aplastic anemia.
Title: Gene expression profiling identifies HOXB4 as a direct downstream target of GATA-2 in human CD34+ hematopoietic cells.
A heterozygous deletion in a GATA2 cis-element consisting of an E-box & a GATA motif which was found in a patient with mycobacterial infection & myelodysplasia caused embryo lethality when induced in mice.
Title: Cis-element mutated in GATA2-dependent immunodeficiency governs hematopoiesis and vascular integrity.
Germline GATA2 mutations predispose to familial myelodysplastic syndrome/acute myeloid leukemia; monosomy 7 and ASXL1 mutations may be recurrent secondary genetic abnormalities triggering overt malignancy.
Title: Germ-line GATA2 p.THR354MET mutation in familial myelodysplastic syndrome with acquired monosomy 7 and ASXL1 mutation demonstrating rapid onset and poor survival.
GATA2 CPG island methylation predicts progression in bladder cancer.
Title: Genome-wide analysis of CpG island methylation in bladder cancer identified TBX2, TBX3, GATA2, and ZIC4 as pTa-specific prognostic markers.
High GATA2 expression is a novel prognostic marker for poor outcome in pediatric AML patients.
Title: High GATA2 expression is a poor prognostic marker in pediatric acute myeloid leukemia.

Submit: New GeneRIF Correction See all (66)

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

Familial acute myeloid leukemia (AML) with mutated CEBPA is defined as AML in which a germline CEBPA mutation is present in a family in which multiple individuals have AML. In contrast, sporadic AML with mutated CEBPA is defined as AML in which a CEBPA mutation is identified in somatic (i.e., leukemic) cells but not in germline (i.e., non-leukemic) cells. Too few persons with familial AML with mutated CEBPA have been reported to be certain about the natural history of the disease. The age of onset of familial AML with mutated CEBPA appears to be earlier than sporadic AML; disease onset has been reported in persons as young as age four years and older than age 50 years. The prognosis of individuals with familial AML with mutated CEBPA appears to be favorable (~50%-65% overall survival) compared to the ~25%-40% overall survival of those who have normal karyotype AML but no germline CEPBA mutation. Individuals with familial AML with mutated CEBPA who have been cured of their initial disease may be at greater risk of developing additional malignant clones than persons with sporadic disease.

Diagnosis Testing

CEBPA mutations are found in the leukemic cells of approximately 9% of persons with AML, including 15%-18% of persons with normal-karyotype AML; however, few of these individuals have a germline mutation. Detection of a germline CEBPA mutation in a specimen that contains only non-leukemic cells from an individual with AML or detection of a germline CEBPA mutation in a member of a pedigree in which more than one family member has had AML or myelodysplastic syndrome (MDS) establishes the diagnosis of familial AML with mutated CEBPA. Molecular genetic testing of CEBPA is available on a clinical basis.

Genetic Counseling

Familial AML with mutated CEBPA is inherited in an autosomal dominant manner. The proportion of cases caused by a de novo germline mutation is unknown; currently, all seven reported affected individuals have had an affected parent. Each child of an affected individual has a 50% chance of inheriting the germline mutation. No laboratories offering molecular genetic testing for prenatal diagnosis of familial AML with mutated CEBPA are listed in the GeneTests Laboratory Directory; however, prenatal testing may be available through laboratories offering custom prenatal testing for families in which the disease-causing germline mutation has been identified. Requests for prenatal testing for conditions that do not affect intellect and have treatment available are not common.

References

PMID: 20963938

Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency

MIM: 614172

Genetic Testing Registry

Lymphedema, primary, with myelodysplasia

MIM: 614038

Genetic Testing Registry

Myelodysplastic syndrome

MIM: 614286

Genetic Testing Registry

NHGRI GWAS Catalog

Identification of nine novel loci associated with white blood cell subtypes in a Japanese population.

Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction.

HIV-1 protein interactions

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Protein	Gene	Interaction	Pubs
Tat, p14	tat	GATA-2 synergizes with HIV-1 Tat to enhance transcriptional activity from the HIV-1 LTR promoter	PubMed

Go to the HIV-1, Human Protein Interaction Database

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_116027.2	U24214.1		BIND	PubMed	GATA-2 binds to the human eNOS promoter
P23769	P31749	AKT1	HPRD	PubMed
P23769	P49715	CEBPA	HPRD	PubMed
P23769	O15379	HDAC3	HPRD	PubMed
P23769	Q9UQL6	HDAC5	HPRD	PubMed
P23769	Q03014	HHEX	HPRD	PubMed
P23769	P05412	JUN	HPRD	PubMed
P23769	P28482	MAPK1	HPRD	PubMed
P23769	P29590	PML	HPRD	PubMed
P23769	P28069	POU1F1	HPRD	PubMed
P23769	P10276	RARA	HPRD	PubMed
P23769	P19793	RXRA	HPRD	PubMed
P23769	P17947	SPI1	HPRD	PubMed
P23769	P40763	STAT3	HPRD	PubMed
P23769	Q05516	ZBTB16	HPRD	PubMed
P23769	Q9Y2Y4	ZBTB32	HPRD	PubMed
P23769	Q8IX07	ZFPM1	HPRD	PubMed
BioGRID:108894	BioGRID:108309	ELAVL1	BioGRID	PubMed	Affinity Capture-RNA
BioGRID:108894	BioGRID:108347	EP300	BioGRID	PubMed	Biochemical Activity
BioGRID:108894	BioGRID:114368	HDAC3	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108894	BioGRID:115331	HDAC5	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108894	BioGRID:109928	JUN	BioGRID	PubMed	Reconstituted Complex
BioGRID:108894	BioGRID:108918	KAT2A	BioGRID	PubMed	Biochemical Activity
BioGRID:108894	BioGRID:110191	LMO2	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:108894	BioGRID:111465	MED1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:108894	BioGRID:111384	PML	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:108894	BioGRID:111445	POU1F1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:108894	BioGRID:111446	POU2AF1	BioGRID	PubMed	Two-hybrid
BioGRID:108894	BioGRID:110264	SMAD4	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:108894	BioGRID:112566	SPI1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:108894	BioGRID:112749	TAL1	BioGRID	PubMed	Two-hybrid
BioGRID:108894	BioGRID:113498	ZBTB16	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:108894	BioGRID:117964	ZBTB32	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108894	BioGRID:127806	ZFPM1	BioGRID	PubMed	Affinity Capture-Western

Pathways from BioSystems

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Adipogenesis, organism-specific biosystem (from WikiPathways)
Adipogenesis, organism-specific biosystemThe different classess of factors involved in adipogenesis are shown. Adipogenesis is the process by which fat cells differentiate from predadipocytes to adipocytes (fat cells). Adipose tissue, compo...
Factors involved in megakaryocyte development and platelet production, organism-specific biosystem (from REACTOME)
Factors involved in megakaryocyte development and platelet production, organism-specific biosystemMegakaryocytes (MKs) give rise to circulating platelets (thrombocytes) through terminal differentiation of MKs which release cytoplasmic fragments as circulating platelets. As MKs mature they underg...
HIF-1-alpha transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
HIF-1-alpha transcription factor network, organism-specific biosystem
HIF-1-alpha transcription factor network
Hemostasis, organism-specific biosystem (from REACTOME)
Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
IL-3 Signaling Pathway, organism-specific biosystem (from WikiPathways)
IL-3 Signaling Pathway, organism-specific biosystemInterleukin-3 belongs to a family of cytokines, which includes IL-5 and GM-CSF. It signals through a receptor complex comprising of an IL-3 specific IL-3 receptor alpha subunit (IL3RA) and a common b...
Regulation of Androgen receptor activity, organism-specific biosystem (from Pathway Interaction Database)
Regulation of Androgen receptor activity, organism-specific biosystem
Regulation of Androgen receptor activity
SIDS Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
SIDS Susceptibility Pathways, organism-specific biosystemIn this model, we provide an integrated view of Sudden Infant Death Syndrome (SIDS) at the level of implicated tissues, signaling networks and genetics. The purpose of this model is to serve as an ov...
Signaling events mediated by HDAC Class I, organism-specific biosystem (from Pathway Interaction Database)
Signaling events mediated by HDAC Class I, organism-specific biosystem
Signaling events mediated by HDAC Class I
Signaling events mediated by HDAC Class II, organism-specific biosystem (from Pathway Interaction Database)
Signaling events mediated by HDAC Class II, organism-specific biosystem
Signaling events mediated by HDAC Class II

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

Genotypes

Homology

Homologs of the GATA2 gene: The GATA2 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, and zebrafish.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Clone Names

MGC2306, FLJ45948

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
C2H2 zinc finger domain binding	IPI Inferred from Physical Interaction more info	PubMed
RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	IEA Inferred from Electronic Annotation more info
RNA polymerase II distal enhancer sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enhancer sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
sequence-specific DNA binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
blood coagulation	TAS Traceable Author Statement more info
cell differentiation in hindbrain	IEA Inferred from Electronic Annotation more info
cell fate determination	IEA Inferred from Electronic Annotation more info
cell maturation	IEA Inferred from Electronic Annotation more info
central nervous system neuron development	IEA Inferred from Electronic Annotation more info
definitive hemopoiesis	IEA Inferred from Electronic Annotation more info
embryonic placenta development	IEA Inferred from Electronic Annotation more info
eosinophil fate commitment	IDA Inferred from Direct Assay more info	PubMed
homeostasis of number of cells within a tissue	IEA Inferred from Electronic Annotation more info
inner ear morphogenesis	IEA Inferred from Electronic Annotation more info
negative regulation of Notch signaling pathway	IDA Inferred from Direct Assay more info	PubMed
negative regulation of fat cell differentiation	IMP Inferred from Mutant Phenotype more info
negative regulation of fat cell proliferation	IMP Inferred from Mutant Phenotype more info
negative regulation of macrophage differentiation	IEA Inferred from Electronic Annotation more info
negative regulation of neural precursor cell proliferation	IDA Inferred from Direct Assay more info	PubMed
negative regulation of transcription from RNA polymerase II promoter	IEA Inferred from Electronic Annotation more info
neuron fate commitment	IEA Inferred from Electronic Annotation more info
phagocytosis	IEA Inferred from Electronic Annotation more info
pituitary gland development	IEA Inferred from Electronic Annotation more info
positive regulation of angiogenesis	IDA Inferred from Direct Assay more info	PubMed
positive regulation of erythrocyte differentiation	IEA Inferred from Electronic Annotation more info
positive regulation of megakaryocyte differentiation	IEA Inferred from Electronic Annotation more info
positive regulation of phagocytosis	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of transcription from RNA polymerase II promoter	IDA Inferred from Direct Assay more info	PubMed
positive regulation of transcription from RNA polymerase II promoter	IGI Inferred from Genetic Interaction more info	PubMed
positive regulation of transcription from RNA polymerase II promoter	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of histone acetylation	IEA Inferred from Electronic Annotation more info
semicircular canal development	IEA Inferred from Electronic Annotation more info
somatic stem cell maintenance	IEA Inferred from Electronic Annotation more info
transcription, DNA-dependent	IDA Inferred from Direct Assay more info	PubMed
urogenital system development	IEA Inferred from Electronic Annotation more info
ventral spinal cord interneuron differentiation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
NOT nucleolus	IDA Inferred from Direct Assay more info
nucleoplasm	TAS Traceable Author Statement more info
nucleus	IDA Inferred from Direct Assay more info
protein complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: endothelial transcription factor GATA-2

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_001145661.1 → NP_001139133.1 endothelial transcription factor GATA-2 isoform 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

P23769

Conserved Domains (1) summary

cd00202
Location:294 – 344
Blast Score: 162

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

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/Swiss-Prot

P23769

Conserved Domains (1) summary

cd00202
Location:294 – 336
Blast Score: 164

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_032638.4 → NP_116027.2 endothelial transcription factor GATA-2 isoform 1

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, AI524325, BC002557, BC051342

Consensus CDS

CCDS3049.1

UniProtKB/Swiss-Prot

P23769

Related

ENSP00000345681, OTTHUMP00000216238, ENST00000341105, OTTHUMT00000356925

Conserved Domains (1) summary

cd00202
Location:294 – 344
Blast Score: 162

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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000003.11 Reference GRCh37.p10 Primary Assembly

Range

128198265..128212030, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000135.1 Alternate HuRef

Range

125582307..125596070, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018914.1 Alternate CHM1_1.0

Range

128181090..128194854, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01020897.1 (6326..20089)	None
genomic	AC080005.24 (46672..60430)	None
genomic	AF169253.1	None
genomic	AMYH01013463.1 (9400..23164)	None
genomic	CH471052.2	EAW79313.1
		EAW79314.1
		EAW79315.1
		EAW79316.1
		EAW79317.1
mRNA	AI524325.1	None
mRNA	AK127845.1	None
mRNA	AK314826.1	BAG37347.1
mRNA	BC002557.2	AAH02557.1
mRNA	BC015577.2	AAH15577.1
mRNA	BC015613.2	AAH15613.1
mRNA	BC018988.2	AAH18988.1
mRNA	BC051272.1	AAH51272.1
mRNA	BC051342.1	AAH51342.1
mRNA	BT006671.1	AAP35317.1
mRNA	BX647499.1	None
mRNA	DA636256.1	None
mRNA	DA837371.1	None
mRNA	M68891.1	AAA35868.1
mRNA	M77810.1	AAA35869.1
other-genetic	DQ892141.2	ABM83067.1
other-genetic	DQ895335.2	ABM86261.1