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Gene

GATA6

GATA binding protein 6

Summary

Cytogenetic location
18q11.2
Coordinates
Chromosome 18: 22,169,589–22,202,528 (GRCh38)
Exons
7 exons across 32.9 kb
Protein
595 amino acids
Inheritance
Autosomal dominant
MANE Select transcript
ENST00000269216.10NM_005257.6
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Diabetes Mellitus

    • A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Teplizumab (Tzield) for stage 2 presymptomatic T1D (FDA approved 2022); insulin replacement at clinical T1D onset; TrialNet autoantibody screening for high-risk relatives; closed-loop insulin delivery systems

  • Inherited Congenital Heart Defects

    • GATA6-Related Congenital Heart DiseaseAutosomal dominant

      Congenital heart defects caused by changes in GATA6, often with an underdeveloped pancreas or diabetes.

      • ClinGen rates the link definitive
      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing about it supports checks for diabetes and pancreatic function alongside heart care.

    • Pancreatic Hypoplasia, Diabetes and Congenital Heart Disease SyndromeAutosomal dominant

      A condition, usually caused by changes in GATA6, that combines an underdeveloped pancreas, diabetes and congenital heart defects.

      • 4 GenCC submitters rate it definitive or strong
    • Atrial Septal Defect

      A hole between the upper chambers of the heart; inherited forms are caused by genes such as NKX2-5, GATA4, TBX20, MYH6 and ACTC1, and NKX2-5 forms also carry a risk of progressive heart block.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Knowing about it supports heart imaging and, for NKX2-5, regular ECG checks.

  • Neonatal Diabetes Mellitus

    • Diabetes diagnosed in the first months of life, either permanent or transient, caused by single-gene defects in insulin production or secretion.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Most people with KCNJ11 or ABCC8 neonatal diabetes can switch from insulin injections to sulfonylurea tablets, often with better glucose control.

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How GATA6 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 18, with a bracket where GATA6 sits. GATA6 and 3 genes near it on chromosome 18, from 21,686,059 to 22,686,058.Chromosome 1818q11.2p11.32p11.31p11.23p11.22p11.21p11.1q11.1q11.2q12.1q12.2q12.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q2321.8 Mb22 Mb22.2 Mb22.4 Mb22.6 MbABHD3: 21,650,895–21,704,878, reverse strandABHD3MIB1: 21,704,957–21,870,953, forward strandMIB1GATA6: 22,169,589–22,202,528, forward strandGATA6CTAGE1: 22,413,599–22,417,915, reverse strandCTAGE1Diagram of GATA6: 7 exons on the forward strand of chromosome 18Exon 2: 17 known disease-causing sitesExon 3: 1 known disease-causing siteExon 4: 6 known disease-causing sitesExon 5: 4 known disease-causing sitesExon 1: 22,169,589–22,169,682, 94 basesExon 2: 22,171,108–22,172,279, 1,172 basesExon 3: 22,176,955–22,177,121, 167 basesExon 4: 22,181,453–22,181,578, 126 basesExon 5: 22,182,757–22,182,844, 88 basesExon 6: 22,182,940–22,183,043, 104 basesExon 7: 22,200,656–22,202,528, 1,873 bases124675′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 3.6 kb of the gene's 32.9 kb; 1,788 of those bases code for the protein.

How a genome test reads GATA6

31

positions in GATA6 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 32.9 kb of GATA6, introns included, not only the 3.6 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). GATA6 gene: GATA binding protein 6. Retrieved 17 October 2026, from https://dantelabs.com/genes/gata6

Vancouver

Dante Labs. GATA6 gene: GATA binding protein 6 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/gata6

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