NKX2-5

NK2 homeobox 5

Ensembl:
ENSG00000183072
UniProt:
P52952
OMIM:
600584
Synonyms:
CSX, CSX1, NKX2.5, NKX2E, NKX4-1

Cilia effects upon perturbation of NKX2-5

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-7.93) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: Increased Signaling (Negative Regulator) PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Human ciliopathy phenotype:
congenital heart disease

Subcellular localization

cilia associated gene, nucleus

Functional category

  • Ciliary assembly/disassembly
  • T cell biology
  • Cardiac & muscle development
  • Muscle contraction & physiology
  • Transcription regulation

Function

The variant in EFCAB7 may disrupt embryonic heart development by influencing downstream target genes (Myh6, Zfpm1, and Nkx2-5) mediated through the Shh/Gli pathway( 39894222).