GATA4

GATA binding protein 4

Tier: Cilia-Associated Genes

Ensembl:: ENSG00000136574
UniProt:: P43694
OMIM:: 600576

Cilia effects upon perturbation of GATA4

Cilia number / % ciliated:: Unknown
Loss-of-function effect:: Unknown
Overexpression effect:: Unknown

Ciliogenesis screen results (3 screens)

Wheway et al. 2015 (siRNA) [siRNA]: Hyper-ciliogenesis (z=2.34) 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:: 46,XY partial gonadal dysgenesis; congenital heart disease

Subcellular localization

nucleus

References: PMID:41071877

Function

Functional validation in single- and double-heterozygous mouse models carrying these variants recapitulated TOF-like phenotypes and impaired normal cilia structure and function, particularly disrupting Hedgehog signaling in cardiomyocytes, and down-regulating key transcription factors Gata4 and Nkx2-5(PMID: 41071877).

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