TGFBR2

transforming growth factor beta receptor 2

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000163513
UniProt:
P37173
OMIM:
190182
Synonyms:
MFS2, TBR-II, TBRII

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-5.10) 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:
small liver, preweaning lethality, complete penetrance

Subcellular localization

cytosol, endosome, transition zone

References: PMID:27364476

Functional category

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

Function

Phosphorylates and activates downstream effectors MEK1/2-ERK1/2 and receptor SMADs, SMAD2/3 (23746451). Involved in CDE (27364476).