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Gene

GATA3

GATA binding protein 3

Summary

Cytogenetic location
10p14
Coordinates
Chromosome 10: 8,054,688–8,075,198 (GRCh38)
Exons
6 exons across 20.5 kb
Protein
444 amino acids
Inheritance
Autosomal dominant
Also known as
HDR
MANE Select transcript
ENST00000379328.9NM_001002295.2
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 report relevant to this gene

  • Inherited Parathyroid & Calcium-Sensing Disorders

    • Hypoparathyroidism-deafness-renal disease syndromeAutosomal dominant

      Low parathyroid hormone together with hearing loss and kidney anomalies, caused by GATA3 variants.

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

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 GATA3 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 10, with a bracket where GATA3 sits. GATA3 and 5 genes near it on chromosome 10, from 7,564,943 to 8,564,942.Chromosome 1010p14p15.3p15.2p15.1p14p13p12.33p12.32p12.31p12.2p12.1p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.31q23.32q23.33q24.1q24.2q24.31q24.32q24.33q25.1q25.2q25.3q26.11q26.12q26.13q26.2q26.37.6 Mb7.8 Mb8 Mb8.2 Mb8.4 MbITIH5: 7,559,270–7,667,021, reverse strandITIH5ITIH2: 7,699,386–7,758,675, forward strandITIH2KIN: 7,750,962–7,788,001, reverse strandKINATP5F1C: 7,788,092–7,807,911, forward strandATP5F1CTAF3: 7,818,497–8,016,631, forward strandTAF3GATA3: 8,054,688–8,075,198, forward strandGATA3Diagram of GATA3: 6 exons on the forward strand of chromosome 10Exon 2: 3 known disease-causing sitesExon 3: 20 known disease-causing sitesExon 4: 10 known disease-causing sitesExon 5: 3 known disease-causing sitesExon 6: 5 known disease-causing sitesExon 1: 8,054,688–8,054,891, 204 basesExon 2: 8,055,287–8,055,896, 610 basesExon 3: 8,058,305–8,058,841, 537 basesExon 4: 8,063,993–8,064,138, 146 basesExon 5: 8,069,473–8,069,598, 126 basesExon 6: 8,073,739–8,075,198, 1,460 bases1234565′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 3.1 kb of the gene's 20.5 kb; 1,335 of those bases code for the protein.

How a genome test reads GATA3

47

positions in GATA3 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 20.5 kb of GATA3, introns included, not only the 3.1 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.). GATA3 gene: GATA binding protein 3. Retrieved 17 October 2026, from https://dantelabs.com/genes/gata3

Vancouver

Dante Labs. GATA3 gene: GATA binding protein 3 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/gata3

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