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_008177.1
Transcript reference NM_002052.3, XM_005272384.1, XM_005272385.2, XM_005272386.1
Associated with diseases ASD-2, AVSD-4, TACHD, TOF, VSD-1
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 14
Unique public DNA variants reported 6
Individuals with public variants 16
Hidden variants 65
Date created November 30, -0001
Date last updated September 28, 2016
Version GATA4:160928

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:4173
Entrez Gene 2626
PubMed articles GATA4
OMIM - Gene 600576
OMIM - Diseases ASD-2 (septal defect, atrial, type 2 (ASD-2))
AVSD-4 (septal defect, atrioventricular, type 4 (AVSD-4))
TACHD (testicular anomalies, with/without congenital heart disease (TACHD))
TOF (tetralogy of Fallot (TOF))
VSD-1 (septal defect, ventricular, type 1 (VSD-1))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00011764 8 GATA binding protein 4 NM_002052.3 NP_002043.2 14
00047023 8 transcript variant X3 XM_005272386.1 XP_005272443.1 -
00047024 8 transcript variant X2 XM_005272385.2 XP_005272442.1 -
00047025 8 transcript variant X1 XM_005272384.1 XP_005272441.1 -