GDNF/RET signaling axis (WP4830)

GDNF-RET signalling is at the core of the signalling network in kidney development. These signalling interactions between the metanephric mesenchyme and the nephric duct are crucial to ensure the induction of the ureter from the nephric duct. Pathway converted from original mouse pathway WP4820.
last edited

Authors

Fehrhart and Eweitz

Cited In

Organism

Homo sapiens

Communities

Rare Diseases

Annotations

Disease Ontology: CAKUT

Pathway Ontology: regulatory pathway

Participants

Label Type Compact Identifier
RET Protein ensembl:ENSG00000165731
GFRA1 Protein ensembl:ENSG00000151892
SPRY1 GeneProduct ensembl:ENSG00000164056
FOXC1 GeneProduct ensembl:ENSG00000054598
SOX17 GeneProduct ensembl:ENSG00000164736
EYA1 GeneProduct ensembl:ENSG00000104313
SOX11 GeneProduct ensembl:ENSG00000176887
PAX2 GeneProduct ensembl:ENSG00000075891
SALL1 GeneProduct ensembl:ENSG00000103449
AGTR2 GeneProduct ensembl:ENSG00000180772
FOXC2 GeneProduct ensembl:ENSG00000176692
GDNF GeneProduct ensembl:ENSG00000168621
GATA3 GeneProduct ensembl:ENSG00000107485
FAT4 GeneProduct ensembl:ENSG00000196159
ROBO2 GeneProduct ensembl:ENSG00000185008
GLI3 Protein ensembl:ENSG00000106571
BMP4 GeneProduct ensembl:ENSG00000125378
IFT27 Protein ensembl:ENSG00000100360
HSPB11 Protein ensembl:ENSG00000081870
LHX1 GeneProduct ensembl:ENSG00000273706
SLIT2 GeneProduct ensembl:ENSG00000145147
CTNNB1 Protein ensembl:ENSG00000168036
GREM1 GeneProduct ensembl:ENSG00000166923
GDNF GeneProduct ensembl:ENSG00000168621

References

  1. Abdelhak S, Kalatzis V, Heilig R, Compain S, Samson D, Vincent C, et al. Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1. Hum Mol Genet. 1997 Dec;6(13):2247–55. PubMed Europe PMC Scholia
  2. Kohlhase J, Wischermann A, Reichenbach H, Froster U, Engel W. Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome. Nat Genet. 1998 Jan;18(1):81–3. PubMed Europe PMC Scholia
  3. Ruf RG, Xu P-X, Silvius D, Otto EA, Beekmann F, Muerb UT, et al. SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. Proc Natl Acad Sci U S A. 2004 May 25;101(21):8090–5. PubMed Europe PMC Scholia
  4. Weber S, Moriniere V, Knüppel T, Charbit M, Dusek J, Ghiggeri GM, et al. Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study. J Am Soc Nephrol. 2006 Oct;17(10):2864–70. PubMed Europe PMC Scholia