GATA4

GATA binding protein 4

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

cilia associated gene, nucleus

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).

Model organism evidence

Mus musculus (2 references)

Axonemal Central Pair Apparatus Protein (HYDIN) is a ciliary protein previously linked to congenital cardiomyopathy.

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: 32376282, 31895934