GDNF/RET signaling axis (Homo sapiens)

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7856BindingLegendHOXC11HOXA11HNF1BALDH1A2WT1SIX23, 109RepulsionMetanephric mesenchymeMaintenanceNephrogenic cordNephric ductRETGFRA1SPRY1FOXC1SOX17EYA1SOX111, 4PAX2SALL142, 4AGTR2FOXC2GDNFGATA3FAT4ROBO2GLI3BMP4IFT27HSPB11LHX1SLIT2CTNNB1GREM1GDNFPAX24InhibitionStimulationInteraction (unknown details)HOXD11


Description

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.

Comments

HomologyMapper 
This pathway was inferred from Mus musculus pathway [WP4820_109222.gpml] with a 100.0% conversion rate.

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Bibliography

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  1. Gong KQ, Yallowitz AR, Sun H, Dressler GR, Wellik DM; ''A Hox-Eya-Pax complex regulates early kidney developmental gene expression.''; Mol Cell Biol, 2007 PubMed Europe PMC Scholia
  2. Abdelhak S, Kalatzis V, Heilig R, Compain S, Samson D, Vincent C, Levi-Acobas F, Cruaud C, Le Merrer M, Mathieu M, König R, Vigneron J, Weissenbach J, Petit C, Weil D; ''Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1.''; Hum Mol Genet, 1997 PubMed Europe PMC Scholia
  3. Weber S, Moriniere V, Knüppel T, Charbit M, Dusek J, Ghiggeri GM, Jankauskiené A, Mir S, Montini G, Peco-Antic A, Wühl E, Zurowska AM, Mehls O, Antignac C, Schaefer F, Salomon R; ''Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study.''; J Am Soc Nephrol, 2006 PubMed Europe PMC Scholia
  4. Mendelsohn C, Batourina E, Fung S, Gilbert T, Dodd J; ''Stromal cells mediate retinoid-dependent functions essential for renal development.''; Development, 1999 PubMed Europe PMC Scholia
  5. Grote D, Boualia SK, Souabni A, Merkel C, Chi X, Costantini F, Carroll T, Bouchard M; ''Gata3 acts downstream of beta-catenin signaling to prevent ectopic metanephric kidney induction.''; PLoS Genet, 2008 PubMed Europe PMC Scholia
  6. Ruf RG, Xu PX, Silvius D, Otto EA, Beekmann F, Muerb UT, Kumar S, Neuhaus TJ, Kemper MJ, Raymond RM Jr, Brophy PD, Berkman J, Gattas M, Hyland V, Ruf EM, Schwartz C, Chang EH, Smith RJ, Stratakis CA, Weil D, Petit C, Hildebrandt F; ''SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.''; Proc Natl Acad Sci U S A, 2004 PubMed Europe PMC Scholia
  7. Gimelli S, Caridi G, Beri S, McCracken K, Bocciardi R, Zordan P, Dagnino M, Fiorio P, Murer L, Benetti E, Zuffardi O, Giorda R, Wells JM, Gimelli G, Ghiggeri GM; ''Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract.''; Hum Mutat, 2010 PubMed Europe PMC Scholia
  8. Weiss AC, Rivera-Reyes R, Englert C, Kispert A; ''Expansion of the renal capsular stroma, ureteric bud branching defects and cryptorchidism in mice with Wilms tumor 1 gene deletion in the stromal compartment of the developing kidney.''; J Pathol, 2020 PubMed Europe PMC Scholia
  9. 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 PubMed Europe PMC Scholia
  10. Kozlov VM, Schedl A; ''Duplex kidney formation: developmental mechanisms and genetic predisposition.''; F1000Res, 2020 PubMed Europe PMC Scholia
  11. Rasmussen M, Sunde L, Nielsen ML, Ramsing M, Petersen A, Hjortshøj TD, Olsen TE, Tabor A, Hertz JM, Johnsen I, Sperling L, Petersen OB, Jensen UB, Møller FG, Petersen MB, Lildballe DL; ''Targeted gene sequencing and whole-exome sequencing in autopsied fetuses with prenatally diagnosed kidney anomalies.''; Clin Genet, 2018 PubMed Europe PMC Scholia

History

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CompareRevisionActionTimeUserComment
135960view07:24, 4 December 2024Fehrhartadded ROBO1
135328view08:41, 22 August 2024FehrhartUpdate
135324view14:07, 21 August 2024Fehrhartupdate with more actual information and graphical improvement
135322view13:37, 21 August 2024Fehrhart
125308view20:28, 31 January 2023LarsgwFix PMID in reference
118773view15:48, 1 June 2021Fehrhartadded reference for EYA1
118770view15:42, 1 June 2021Fehrhartadded literature for SALL1
118769view15:41, 1 June 2021Fehrhartadded literature for SALL1/EYA1/PAX2 regulation on GDNF
118763view15:13, 1 June 2021Fehrhartadded literature
116422view09:10, 7 May 2021EweitzModified title
109223view07:59, 28 February 2020FehrhartNew pathway

External references

DataNodes

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NameTypeDatabase referenceComment
AGTR2GeneProductENSG00000180772 (Ensembl) Homology Mapping from Mus musculus to Homo sapiens: Original ID = En:ENSMUSG00000068122
ALDH1A2GeneProductENSG00000128918 (Ensembl)
BMP4GeneProductENSG00000125378 (Ensembl) Homology Mapping from Mus musculus to Homo sapiens: Original ID = En:ENSMUSG00000021835
CTNNB1ProteinENSG00000168036 (Ensembl) Homology Mapping from Mus musculus to Homo sapiens: Original ID = S:Q02248
EYA1GeneProductENSG00000104313 (Ensembl) Homology Mapping from Mus musculus to Homo sapiens: Original ID = En:ENSMUSG00000025932
FAT4GeneProductENSG00000196159 (Ensembl) Homology Mapping from Mus musculus to Homo sapiens: Original ID = En:ENSMUSG00000046743
FOXC1GeneProductENSG00000054598 (Ensembl) Homology Mapping from Mus musculus to Homo sapiens: Original ID = En:ENSMUSG00000050295
FOXC2GeneProductENSG00000176692 (Ensembl) Homology Mapping from Mus musculus to Homo sapiens: Original ID = En:ENSMUSG00000046714
GATA3GeneProductENSG00000107485 (Ensembl) Homology Mapping from Mus musculus to Homo sapiens: Original ID = En:ENSMUSG00000015619
GDNFGeneProductENSG00000168621 (Ensembl) Homology Mapping from Mus musculus to Homo sapiens: Original ID = En:ENSMUSG00000022144
GFRA1ProteinENSG00000151892 (Ensembl) Homology Mapping from Mus musculus to Homo sapiens: Original ID = S:P97785
GLI3ProteinENSG00000106571 (Ensembl) Homology Mapping from Mus musculus to Homo sapiens: Original ID = S:Q61602
GREM1GeneProductENSG00000166923 (Ensembl) Homology Mapping from Mus musculus to Homo sapiens: Original ID = En:ENSMUSG00000074934
HNF1BGeneProductENSG00000275410 (Ensembl)
HOXA11GeneProductENSG00000005073 (Ensembl)
HOXC11GeneProductENSG00000123388 (Ensembl)
HOXD11GeneProductENSG00000128713 (Ensembl)
HSPB11ProteinENSG00000081870 (Ensembl) Homology Mapping from Mus musculus to Homo sapiens: Original ID = S:Q9D6H2
IFT27ProteinENSG00000100360 (Ensembl) Homology Mapping from Mus musculus to Homo sapiens: Original ID = S:Q9D0P8
LHX1GeneProductENSG00000273706 (Ensembl) Homology Mapping from Mus musculus to Homo sapiens: Original ID = En:ENSMUSG00000018698
PAX2GeneProductENSG00000075891 (Ensembl) Homology Mapping from Mus musculus to Homo sapiens: Original ID = En:ENSMUSG00000004231
RETProteinENSG00000165731 (Ensembl) Homology Mapping from Mus musculus to Homo sapiens: Original ID = S:P35546
ROBO2GeneProductENSG00000185008 (Ensembl) Homology Mapping from Mus musculus to Homo sapiens: Original ID = En:ENSMUSG00000052516
SALL1GeneProductENSG00000103449 (Ensembl) Homology Mapping from Mus musculus to Homo sapiens: Original ID = En:ENSMUSG00000031665
SIX2GeneProductENSG00000170577 (Ensembl)
SLIT2GeneProductENSG00000145147 (Ensembl) Homology Mapping from Mus musculus to Homo sapiens: Original ID = En:ENSMUSG00000031558
SOX11GeneProductENSG00000176887 (Ensembl) Homology Mapping from Mus musculus to Homo sapiens: Original ID = En:ENSMUSG00000063632
SOX17GeneProductENSG00000164736 (Ensembl) Homology Mapping from Mus musculus to Homo sapiens: Original ID = En:ENSMUSG00000025902
SPRY1GeneProductENSG00000164056 (Ensembl) Homology Mapping from Mus musculus to Homo sapiens: Original ID = En:ENSMUSG00000037211
WT1GeneProductENSG00000184937 (Ensembl)

Annotated Interactions

No annotated interactions
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