GATA2 GATA binding protein 2
Gene ID: 2624, updated on 8-Oct-2024Gene type: protein coding
Also known as: DCML; IMD21; NFE1B; MONOMAC
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- Go to complete Gene record for GATA2
- Go to Variation Viewer for GATA2 variants
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 | See labs |
Deafness-lymphedema-leukemia syndrome | 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 | See labs |
Multiple loci are associated with white blood cell phenotypes. GeneReviews: Not available | |
Myelodysplastic syndrome | 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 PagePubMedTriplosensitivity 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
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 |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- GATA2 database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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