TGFBR2

transforming growth factor beta receptor 2

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

Cilia effects upon perturbation of TGFBR2

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
Mouse ciliopathy phenotype:
abnormal liver morphology, enlarged heart, abnormal heart morphology, enlarged kidney, abnormal kidney morphology

Subcellular localization

cytosol, endosome, transition zone

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • T cell biology
  • 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).

Model organism evidence

Mus musculus (1 reference)

Groups of differentially expressed genes (DEGs) were involved in diverse cellular processes and components associated with orofacial clefting, including the extracellular matrix, cholesterol metabolism, ciliogenesis, and multiple signaling pathways.

PMIDs: 23060211