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GATA4 GATA binding protein 4

Gene ID: 2626, updated on 5-Jan-2022
Gene type: protein coding
Also known as: TOF; ASD2; VSD1; TACHD

Summary

This gene encodes a member of the GATA family of zinc-finger transcription factors. Members of this family recognize the GATA motif which is present in the promoters of many genes. This protein is thought to regulate genes involved in embryogenesis and in myocardial differentiation and function, and is necessary for normal testicular development. Mutations in this gene have been associated with cardiac septal defects. Additionally, alterations in gene expression have been associated with several cancer types. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.
GeneReviews: Not available
Atrial septal defect 2
MedGen: C1842778OMIM: 607941GeneReviews: Not available
See labs
Atrioventricular septal defect 4
MedGen: C3280781OMIM: 614430GeneReviews: Not available
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Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo.
GeneReviews: Not available
Testicular anomalies with or without congenital heart disease
MedGen: C3809858OMIM: 615542GeneReviews: Not available
See labs
Tetralogy of Fallot
MedGen: C0039685OMIM: 187500GeneReviews: Not available
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Ventricular septal defect 1
MedGen: C3280777OMIM: 614429GeneReviews: Not available
See labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2017-02-08)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2017-02-08)

ClinGen Genome Curation PagePubMed

Genomic context

Location:
8p23.1
Sequence:
Chromosome: 8; NC_000008.11 (11676935..11760002)
Total number of exons:
9

Links

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