The GATA2 gene homepage

General information
Gene symbol GATA2
Gene name GATA binding protein 2
Chromosome 3
Chromosomal band q21
Imprinted Unknown
Genomic reference LRG_295
Transcript reference NM_001145661.1, NM_001145662.1, NM_032638.4
Associated with diseases AML, MDS, Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency, lymphedema, primary, with myelodysplasia
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 47
Unique public DNA variants reported 6
Individuals with public variants 33
Hidden variants 36
Date created November 30, -0001
Date last updated September 28, 2016
Version GATA2:160928

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:4171
Entrez Gene 2624
PubMed articles GATA2
OMIM - Gene 137295
OMIM - Diseases AML (leukemia, myeloid, acute (AML))
MDS (myelodysplastic syndrome (MDS))
Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency
lymphedema, primary, with myelodysplasia


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00021561 3 transcript variant 2 NM_032638.4 NP_116027.2 47
00027624 3 Manually created transcript NM_001145661.1 - 47
00027625 3 Manually created transcript NM_001145662.1 - 42