FRS2

fibroblast growth factor receptor substrate 2

Ensembl:
ENSG00000166225
UniProt:
Q8WU20
Synonyms:
FRS2A, FRS2ALPHA, SNT-1, SNT1

Cilia effects upon perturbation of FRS2

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • 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:
preweaning lethality, complete penetrance
Mouse ciliopathy phenotype:
abnormal auditory brainstem response

Subcellular localization

cilia

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Signaling (Hedgehog, GPCRs, ion channels)
  • Cardiac & muscle development
  • Transcription regulation

Function

Upon FGF10 stimulation, the activated FGFR2 initiates the downstream sig ling by phosphorylation (p) of FRS2, MEK1, ERK1/2, and p38(MAPK14 ) within the cilium, which results in transcription of the target genes(40257378).