The GATA6 gene homepage

General information
Gene symbol GATA6
Gene name GATA binding protein 6
Chromosome 18
Chromosomal band q11-q12
Imprinted Unknown
Genomic reference NG_032677.1
Transcript reference NM_005257.4, NR_102763.1
Associated with diseases ASD-9, AVSD-5, CTHM, HDCA, TOF
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 51
Unique public DNA variants reported 9
Individuals with public variants 34
Hidden variants 2
Date created November 30, -0001
Date last updated September 28, 2016
Version GATA6:160928

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:4174
Entrez Gene 2627
PubMed articles GATA6
OMIM - Gene 601656
OMIM - Diseases ASD-9 (septal defect, atrial, type 9 (ASD-9))
AVSD-5 (septal defect, atrioventricular, type 5 (AVSD-5))
CTHM (heart malformations,conotruncal (CTHM))
HDCA (heart disease, congenital, and other congenital anomalies (HDCA))
TOF (tetralogy of Fallot (TOF))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00025545 18 GATA binding protein 6 NM_005257.4 NP_005248.2 51
00031889 18 Manually created transcript (removed from reference sequence) NR_102763.1 - -