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
Associated with diseases ASD-9, AVSD-5, CTHM, HDCA, TOF
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 36
Unique public DNA variants reported 32
Individuals with public variants 201
Hidden variants 25
Date created May 03, 2013
Date last updated September 15, 2020
Version GATA6:200915

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 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))
Orphanet GATA6

Active transcripts




NCBI ID     

NCBI Protein ID     

00008371 18 GATA binding protein 6 NM_005257.4 NP_005248.2 36

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