GATA2 Chromosome 3
GATA binding protein 2
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What This Gene Does
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]
Gene Info
Gene Group
GATA zinc finger domain containing
Locus Type
gene with protein product
Location
3q21.3
Ensembl
ENSG00000179348
Associated Conditions (17)
Deafness-lymphedema-leukemia syndrome
Monocytopenia with susceptibility to infections
GATA2 deficiency with susceptibility to MDS/AML
Inborn genetic diseases
GATA2-related disorder
Acute myeloid leukemia
Myelodysplastic syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder
Hereditary cancer
Predisposition to myelodysplastic syndrome
Leukemia
acute myeloid
susceptibility to
Neoplasm
Lung cancer
multilineage dysplasia
Key Variants
RS1060500091
Conflicting classifications of pathogenicity
Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections, Deafness-lymphedema-leukemia syndrome
Health Risk
RS1060500092
Conflicting classifications of pathogenicity
Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections, GATA2 deficiency with susceptibility to MDS/AML
Health Risk
RS1060503831
Conflicting classifications of pathogenicity
Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections, Inborn genetic diseases
Health Risk
RS1126559
Conflicting classifications of pathogenicity
Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections, Inborn genetic diseases
Health Risk
RS1220018679
Conflicting classifications of pathogenicity
Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections, Inborn genetic diseases
Health Risk
RS1246380412
Conflicting classifications of pathogenicity
Monocytopenia with susceptibility to infections, Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
Health Risk
RS1255750954
Conflicting classifications of pathogenicity
Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML, Monocytopenia with susceptibility to infections
Health Risk
RS1282036381
Conflicting classifications of pathogenicity
Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections, Inborn genetic diseases
Health Risk
RS1296477757
Conflicting classifications of pathogenicity
GATA2 deficiency with susceptibility to MDS/AML, Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
Health Risk
RS1399106413
Conflicting classifications of pathogenicity
Monocytopenia with susceptibility to infections, Deafness-lymphedema-leukemia syndrome, Inborn genetic diseases
Health Risk
RS140382420
Conflicting classifications of pathogenicity
Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections, GATA2-related disorder
Health Risk
RS1405092589
Conflicting classifications of pathogenicity
Inborn genetic diseases, Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
Health Risk
All Variants (269)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS869320735 | Health Risk | Pathogenic | Monocytopenia with susceptibility to infections, GATA2 deficiency with susceptibility to MDS/AML, Deafness-lymphedema-leukemia syndrome |
| RS869320770 | Health Risk | Pathogenic | Monocytopenia with susceptibility to infections, Deafness-lymphedema-leukemia syndrome, Deafness-lymphedema-leukemia syndrome |
| RS1313081073 | Health Risk | Pathogenic/Likely pathogenic | Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections, Deafness-lymphedema-leukemia syndrome |
| RS1420609104 | Health Risk | Pathogenic/Likely pathogenic | Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections, GATA2 deficiency with susceptibility to MDS/AML |
| RS1426175410 | Health Risk | Pathogenic/Likely pathogenic | Leukemia, acute myeloid, susceptibility to |
| RS1553770510 | Health Risk | Pathogenic/Likely pathogenic | Leukemia, acute myeloid, susceptibility to |
| RS1553770949 | Health Risk | Pathogenic/Likely pathogenic | Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections, Deafness-lymphedema-leukemia syndrome |
| RS1559985787 | Health Risk | Pathogenic/Likely pathogenic | Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections, GATA2 deficiency with susceptibility to MDS/AML |
| RS1576745270 | Health Risk | Pathogenic/Likely pathogenic | GATA2 deficiency with susceptibility to MDS/AML, Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections |
| RS1576745308 | Health Risk | Pathogenic/Likely pathogenic | Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML, Deafness-lymphedema-leukemia syndrome |
| RS1576748357 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1576749014 | Health Risk | Pathogenic/Likely pathogenic | Myelodysplastic syndrome, Myelodysplastic syndrome |
| RS2107668560 | Health Risk | Pathogenic/Likely pathogenic | Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML, Inborn genetic diseases |
| RS2107668693 | Health Risk | Pathogenic/Likely pathogenic | Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML, Deafness-lymphedema-leukemia syndrome |
| RS2107673689 | Health Risk | Pathogenic/Likely pathogenic | Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML, Inborn genetic diseases |
| RS376003468 | Health Risk | Pathogenic/Likely pathogenic | Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections, GATA2 deficiency with susceptibility to MDS/AML |
| RS387906633 | Health Risk | Pathogenic/Likely pathogenic | Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML, Monocytopenia with susceptibility to infections |
| RS745439347 | Health Risk | Pathogenic/Likely pathogenic | Monocytopenia with susceptibility to infections, Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections |
| RS764747992 | Health Risk | Pathogenic/Likely pathogenic | GATA2 deficiency with susceptibility to MDS/AML, Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections |