GATA6

GATA binding protein 6

Ensembl:
ENSG00000141448
UniProt:
Q92908
OMIM:
601656

Cilia effects upon perturbation of GATA6

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

cilia associated gene, 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).

Model organism evidence

Mus musculus (1 reference)

LZTFL1 participates in immune synapse formation, ciliogenesis, and the localization of ciliary proteins, and knockout of LZTFL1 induces abnormal distribution of heterotetrameric adaptor protein complex-1 (AP-1) in the Lztfl1-knockout mouse photoreceptor cells, suggesting that LZTFL1 is involved i

PMIDs: 31895934