GATA6

GATA binding protein 6

Tier: Cilia-Associated Genes

Ensembl:
ENSG00000141448
UniProt:
Q92908
OMIM:
601656

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-9.93) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Human ciliopathy phenotype:
pancreatic hypoplasia-diabetes-congenital heart disease syndrome; Pancreatic hypoplasia - diabetes - congenital heart disease

Subcellular localization

nucleus

Functional category

  • Ciliary assembly/disassembly
  • Signaling (Hedgehog, GPCRs, ion channels)
  • Cardiac & muscle development
  • Muscle contraction & physiology
  • Transcription regulation

Function

Mutations in the GATA6 gene cause Congenital Heart Disease (PMID: 22158542, 22962692).