The GATA4 gene homepage

General information
Gene symbol GATA4
Gene name GATA binding protein 4
Chromosome 8
Chromosomal band p23.1-p22
Imprinted Unknown
Genomic reference NG_008177.2
Transcript reference NM_002052.3
Exon/intron information NM_002052.3 exon/intron table
Associated with diseases ASD2, AVSD4, TACHD, TOF, VSD1
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 220
Unique public DNA variants reported 139
Individuals with public variants 451
Hidden variants 9
Download all this gene's data Download all data
Notes Change to MANE select NM_001308093.3
We gratefully acknowledge Aimée Paulussen for acting as a curator untill 2016. Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created April 29, 2010
Date last updated February 26, 2024
Version GATA4:240226

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_002052.3.
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 https://www.LOVD.nl/GATA4
HGNC 4173
Entrez Gene 2626
PubMed articles GATA4
OMIM - Gene 600576
OMIM - Diseases ASD2 (septal defect, atrial, type 2 (ASD2))
AVSD4 (septal defect, atrioventricular, type 4 (AVSD-4))
TACHD (testicular anomalies, with/without congenital heart disease (TACHD))
TOF (tetralogy of Fallot (TOF))
VSD1 (septal defect, ventricular, type 1 (VSD-1))
HGMD GATA4
GeneCards GATA4
GeneTests GATA4
Orphanet GATA4


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00008369 8 GATA binding protein 4 NM_002052.3 NP_002043.2 220


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 © 2010-2024. 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.

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