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Gene

GATA4

GATA binding protein 4

Summary

Cytogenetic location
8p23.1
Coordinates
Chromosome 8: 11,704,202–11,760,002 (GRCh38)
Exons
7 exons across 55.8 kb
Protein
443 amino acids
Inheritance
Autosomal dominant
MANE Select transcript
ENST00000532059.6NM_001308093.3
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

  • 46,XY Differences of Sex Development and Gonadal Dysgenesis

    • 46,XY differences of sex development

      Conditions in people with XY chromosomes in which gonadal or genital development is atypical, caused by variants in genes such as SRD5A2, HSD17B3, NR5A1, MAP3K1, DHH, WT1, CYP11A1 and LHCGR.

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

      Diagnosis informs hormone treatment, fertility counselling and, where dysgenetic gonads carry Y material, assessment of gonadal tumour risk.

  • 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

    • GATA4-Related Congenital Heart DiseaseAutosomal dominant

      Congenital heart defects caused by changes in GATA4, sometimes with an underdeveloped pancreas or diabetes.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong
    • 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.

      • 1 GenCC submitter rates 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.

      • 2 GenCC submitters rate 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 GATA4 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 8, with a bracket where GATA4 sits. GATA4 and 16 genes near it on chromosome 8, from 11,232,102 to 12,232,101.Chromosome 88p23.1p23.3p23.2p23.1p22p21.3p21.2p21.1p12p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.3q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.311.4 Mb11.6 Mb11.8 Mb12 Mb12.2 MbMTMR9: 11,284,450–11,328,146, forward strandMTMR9SLC35G5: 11,331,012–11,332,360, forward strandSLC35G5FAM167A: 11,419,202–11,475,908, reverse strandFAM167ABLK: 11,486,894–11,564,599, forward strandBLKGATA4: 11,704,202–11,760,002, forward strandGATA4NEIL2: 11,769,633–11,787,346, forward strandNEIL2FDFT1: 11,795,565–11,846,085, forward strandFDFT1CTSB: 11,842,524–11,911,780, reverse strandCTSBDEFB136: 11,973,937–11,974,599, reverse strandDEFB136DEFB135: 11,982,256–11,984,590, forward strandDEFB135DEFB134: 11,993,174–12,000,752, reverse strandDEFB134DEFB130B: 12,064,389–12,071,747, reverse strandDEFB130BZNF705D: 12,089,338–12,115,516, forward strandZNF705DUSP17L7: 12,132,417–12,134,099, reverse strandUSP17L7USP17L2: 12,136,435–12,138,849, reverse strandUSP17L2DEFB109D: 12,150,888–12,158,033, reverse strandDEFB109DFAM86B1: 12,182,096–12,194,168, reverse strandFAM86B1Diagram of GATA4: 7 exons on the forward strand of chromosome 8Exon 2: 5 known disease-causing sitesExon 3: 4 known disease-causing sitesExon 4: 9 known disease-causing sitesExon 5: 5 known disease-causing sitesExon 6: 1 known disease-causing siteExon 7: 1 known disease-causing siteExon 1: 11,704,202–11,704,304, 103 basesExon 2: 11,707,856–11,708,928, 1,073 basesExon 3: 11,748,916–11,749,085, 170 basesExon 4: 11,750,111–11,750,236, 126 basesExon 5: 11,755,046–11,755,133, 88 basesExon 6: 11,756,935–11,757,083, 149 basesExon 7: 11,758,293–11,760,002, 1,710 bases12345675′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 3.4 kb of the gene's 55.8 kb; 1,332 of those bases code for the protein.

How a genome test reads GATA4

27

positions in GATA4 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 55.8 kb of GATA4, introns included, not only the 3.4 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.). GATA4 gene: GATA binding protein 4. Retrieved 17 October 2026, from https://dantelabs.com/genes/gata4

Vancouver

Dante Labs. GATA4 gene: GATA binding protein 4 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/gata4

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