Gene
GATA5
GATA binding protein 5
- HGNC 15802↗(opens in a new tab)
- Ensembl gene ENSG00000130700↗(opens in a new tab)
- NCBI Gene 140628↗(opens in a new tab)
Summary
- Cytogenetic location
- 20q13.33
- Coordinates
- Chromosome 20: 62,463,497–62,475,995 (GRCh38)
- Exons
- 7 exons across 12.5 kb
- Protein
- 397 amino acids
- Also known as
- bB379O24.1, GATAS
- MANE Select transcript
- ENST00000252997.3NM_080473.5
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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No Genome Test report reads GATA5 yet. The test sequences your whole genome, so your data includes it all the same.
How GATA5 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Stretches short reads find hard
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 2.6 kb of the gene's 12.5 kb; 1,194 of those bases code for the protein.
How a genome test reads GATA5
1
position in GATA5 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 12.5 kb of GATA5, introns included, not only the 2.6 kb of exons.
Traits linked to GATA5
The Human Phenotype Ontology lists these as features of the rare conditions GATA5 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the cardiovascular system
- Aortic valve has two leaflets rather than three
- Aortic regurgitation
- Aortic valve calcification
- Heart murmur
- Narrowing of aorta
- Narrowing of aortic valve
- Thoracic aorta calcification
- Aortic arch aneurysm
Show 13 more traits
- Fainting spell
- High blood pressure
- Hole in heart wall separating two lower heart chambers
- Palpitations
- Quivering upper heart chambers resulting in irregular heartbeat
- Tetralogy of Fallot
- An opening in the wall separating the top two chambers of the heart
- Double outlet right ventricle
- Heart attack
- Abnormal left ventricular outflow tract morphology
- Ascending aortic dissection
- Stretched and thinned heart muscle
- Underdeveloped left heart
External links
Gene records
Transcript
Protein
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.
- 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
Dante Labs. (n.d.). GATA5 gene: GATA binding protein 5. Retrieved 16 October 2026, from https://dantelabs.com/genes/gata5
Dante Labs. GATA5 gene: GATA binding protein 5 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/gata5
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