GATA2 GATA binding protein 2

Gene ID: 2624, updated on 27-May-2024
Gene type: protein coding
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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Acute myeloid leukemia MedGen: C0023467OMIM: 601626GeneReviews: 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	See labs
Deafness-lymphedema-leukemia syndrome MedGen: C3279664OMIM: 614038GeneReviews: Not available	See labs
Identification of nine novel loci associated with white blood cell subtypes in a Japanese population. GeneReviews: Not available
Monocytopenia with susceptibility to infections MedGen: C3280030OMIM: 614172GeneReviews: Not available	See labs
Multiple loci are associated with white blood cell phenotypes. GeneReviews: Not available
Myelodysplastic syndrome MedGen: C3463824OMIM: 614286GeneReviews: Not available	See labs
Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction. GeneReviews: Not available

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

Genomic context

Location:: 3q21.3

Sequence:: Chromosome: 3; NC_000003.12 (128479422..128493201, complement)

Total number of exons:: 8

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for GATA2 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
GATA2 database
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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