The GATA2 gene homepage

This database is one of the "Vascular anomalies and lymphedema" gene variant databases.
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
Exon/intron information NM_001145661.1 exon/intron table
Associated with diseases AML, IMD21, MDS, Emberger syndrome
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (3) Élodie Fastré, Pascal Brouillard, and Pia Ostergaard
Total number of public variants reported 112
Unique public DNA variants reported 73
Individuals with public variants 99
Hidden variants 1
Download all this gene's data Download all data
Notes This database is one of the "Vascular anomalies and lymphedema" gene variant databases, curated by the Laboratory of Human Molecular Genetics, de Duve Institute, Brussels (Belgium).
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created April 03, 2013
Date last updated November 30, 2023
Version GATA2:231130

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_001145661.1.
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
Homepage URL
HGNC 4171
Entrez Gene 2624
PubMed articles GATA2
OMIM - Gene 137295
OMIM - Diseases AML (leukemia, myeloid, acute (AML))
IMD21 (Immunodeficiency 21)
MDS (myelodysplastic syndrome (MDS))
Emberger syndrome
GeneCards GATA2
GeneTests GATA2
Orphanet GATA2

Active transcripts




NCBI ID     

NCBI Protein ID     

00024202 3 transcript variant 1 NM_001145661.1 NP_001139133.1 112

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2013-2023. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), curator(s), or any of their employees or agents for the effects of any product, process, or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.