Gene: GATA2

Alternate names for this Gene: DCML|IMD21|MONOMAC|NFE1B

Gene 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.

Gene is located in Chromosome: 3

Location in Chromosome : 3q21.3

Description of this Gene: GATA binding protein 2

Type of Gene: protein-coding

rs55914222 in GATA2 gene and Diastolic blood pressure PMID 30578418 2019 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.

rs1426175410 in GATA2 gene and Emberger Syndrome PMID 25879889 2015 Diffuse parenchymal lung disease as first clinical manifestation of GATA-2 deficiency in childhood.

PMID 26812071 2016 Single-gene association between GATA-2 and autoimmune hepatitis: A novel genetic insight highlighting immunologic pathways to disease.

PMID 24266605 2013 Abstracts of the UK PIN (Primary Immunodeficiency Network) Meeting. December 6-7, 2013. Liverpool, United Kingdom.

PMID 21892158 2011 Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome).

PMID 23502222 2013 GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome.

PMID 27418648 2016 Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients.

PMID 24077845 2014 Acquired ASXL1 mutations are common in patients with inherited GATA2 mutations and correlate with myeloid transformation.

PMID 26492932 2015 Genomic analysis of germ line and somatic variants in familial myelodysplasia/acute myeloid leukemia.

PMID 23365458 2013 Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset.

PMID 26702063 2016 Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents.

PMID 25676417 2015 Characterisation of a compound in-cis GATA2 germline mutation in a pedigree presenting with myelodysplastic syndrome/acute myeloid leukemia with concurrent thrombocytopenia.

PMID 21892162 2011 Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia.

PMID 21670465 2011 Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.

PMID 27894982 2017 Multiple Opportunistic Infections in a Woman with GATA2 Mutation.

rs1426175410 in GATA2 gene and GATA2 Deficiency PMID 23502222 2013 GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome.

PMID 26812071 2016 Single-gene association between GATA-2 and autoimmune hepatitis: A novel genetic insight highlighting immunologic pathways to disease.

PMID 24077845 2014 Acquired ASXL1 mutations are common in patients with inherited GATA2 mutations and correlate with myeloid transformation.

PMID 27418648 2016 Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients.

PMID 24266605 2013 Abstracts of the UK PIN (Primary Immunodeficiency Network) Meeting. December 6-7, 2013. Liverpool, United Kingdom.

PMID 21892158 2011 Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome).

PMID 25879889 2015 Diffuse parenchymal lung disease as first clinical manifestation of GATA-2 deficiency in childhood.

PMID 29077208 2018 Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics.

PMID 23365458 2013 Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset.

PMID 26702063 2016 Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents.

PMID 26492932 2015 Genomic analysis of germ line and somatic variants in familial myelodysplasia/acute myeloid leukemia.

PMID 21670465 2011 Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.

PMID 21892162 2011 Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia.

PMID 25676417 2015 Characterisation of a compound in-cis GATA2 germline mutation in a pedigree presenting with myelodysplastic syndrome/acute myeloid leukemia with concurrent thrombocytopenia.

PMID 27894982 2017 Multiple Opportunistic Infections in a Woman with GATA2 Mutation.

rs387906629 in GATA2 gene and Leukemia, Myelocytic, Acute PMID 22147895 2012 Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature.

PMID 21765025 2011 Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency.

PMID 22147895 2012 Here, we describe a previously unreported MDS family carrying a missense GATA2 mutation (p.Thr354Met), one patient with MDS/AML carrying a frameshift GATA2 mutation (p.Leu332Thrfs*53), another with MDS harboring a GATA2 splice site mutation, and 3 patients exhibiting MDS or MDS/AML who have large deletions encompassing the GATA2 locus.

rs387906631 in GATA2 gene and MYELODYSPLASTIC SYNDROME PMID 21892162 2011 We found the same, previously unidentified heterozygous c.1061C>T (p.Thr354Met) missense mutation in the GATA2 transcription factor gene segregating with the multigenerational transmission of MDS-AML in three families and a GATA2 c.1063_1065delACA (p.Thr355del) mutation at an adjacent codon in a fourth MDS family.

rs62270945 in GATA2 gene and Systolic Pressure PMID 27841878 2017 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.