SMAD3

SMAD family member 3

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000166949
UniProt:
P84022
OMIM:
603109
Synonyms:
HST17436, JV15-2, MADH3

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:
decreased exploration in new environment, decreased circulating alkaline phosphatase level, decreased lymphocyte cell number, preweaning lethality, complete penetrance

Subcellular localization

basal body, cilia, cytosol, nucleus, transition zone

References: PMID:41005307, PMID:23746451, PMID:20011520

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Viral interactions
  • Cell migration & adhesion
  • Signaling (Hedgehog, GPCRs, ion channels)
  • Cardiac & muscle development
  • Transition zone
  • ECM & connective tissue
  • Transcription regulation

Function

Downstream of TGFBR1 and 2, which phosphorylate SMAD2/3 at base of cilium upon TGF-β stimulation (23746451). Sox2 can interact with Smad3 and inhibit TGF-β1/Smad3- mediated transcriptional activity (20011520).