GATA6 GATA binding protein 6
Gene ID: 2627, updated on 2-Nov-2024Gene type: protein coding
Summary
This gene is a member of a small family of zinc finger transcription factors that play an important role in the regulation of cellular differentiation and organogenesis during vertebrate development. This gene is expressed during early embryogenesis and localizes to endo- and mesodermally derived cells during later embryogenesis and thereby plays an important role in gut, lung, and heart development. Mutations in this gene are associated with several congenital defects. [provided by RefSeq, Mar 2012]
Associated conditions
| Description | Tests |
|---|---|
| Atrial septal defect 9 | not available |
| Atrioventricular septal defect 5 | not available |
| Conotruncal heart malformations | not available |
| Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2. GeneReviews: Not available | |
| Pancreatic hypoplasia-diabetes-congenital heart disease syndrome | not available |
| Tetralogy of Fallot | not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2013-06-20) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2013-06-20) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 18q11.2
- Sequence:
- Chromosome: 18; NC_000018.10 (22169589..22202528)
- Total number of exons:
- 8
Variation
| Resource | Links for this gene |
|---|---|
| SNP | Variation Viewer for GATA6 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
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