SMAD2

SMAD family member 2

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000175387
UniProt:
Q15796
OMIM:
601366
Synonyms:
JV18-1, MADH2, MADR2

Cilia effects upon perturbation of SMAD2

Cilia number / % ciliated:
No effect
Loss-of-function effect:
No effect

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-11.71) 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:
congenital heart defects, multiple types, 8, with or without heterotaxy

Subcellular localization

basal body, cytosol, nucleus, transition zone

References: PMID:41005307, PMID:25959824, PMID:23746451

Functional category

  • Ciliary assembly/disassembly
  • Signaling (Hedgehog, GPCRs, ion channels)
  • Transition zone
  • Transcription regulation
  • Cilia length regulation

Function

Madiator in the activation of TGF-β signaling pathway and controls cilia length (25959824). Downstream of TGFBR1 and 2, which phosphorylate SMAD2/3 at base of cilium upon TGF-β stimulation (23746451).