The GATA1 gene homepage

General information
Gene symbol GATA1
Gene name GATA binding protein 1 (globin transcription factor 1)
Chromosome X
Chromosomal band p11.23
Imprinted Unknown
Genomic reference NG_008846.1
Transcript reference NM_002049.3
Associated with diseases XLANP, XLTDA, XLTT, complete trisomy 21 syndrome
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 35
Unique public DNA variants reported 27
Individuals with public variants 10
Hidden variants 2
Date created September 13, 2012
Date last updated January 11, 2023
Version GATA1:230111

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
HGNC 4170
Entrez Gene 2623
PubMed articles GATA1
OMIM - Gene 305371
OMIM - Diseases XLANP (anemia, X-linked, with/without neutropenia and/or platelet abnormalitie (XLANP))
XLTDA (thrombocytopenia, X-linked, with or without dyserythropoietic anemia)
XLTT (thrombocytopenia with beta-thalassemia, X-linked (XLTT))
complete trisomy 21 syndrome
GeneCards GATA1
GeneTests GATA1
Orphanet GATA1

Active transcripts




NCBI ID     

NCBI Protein ID     

00000659 X GATA binding protein 1 (globin transcription factor 1) NM_002049.3 NP_002040.1 35

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