Development of ureteric derived collecting system (WP5053)

Homo sapiens

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This pathway describes the gene signaling pathway active in the development of the ureteric collection system in human kidney development. Mutations in essential genes within this pathway can lead to development of CAKUT (congenital anomalies of the kidney and urinary tract).

Authors

Friederike Ehrhart and Eric Weitz

Activity

last edited

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Cited In

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Organisms

Homo sapiens

Communities

Rare Diseases

Annotations

Disease Ontology

CAKUT Fraser syndrome Pallister-Hall syndrome Kallmann syndrome kidney disease

Pathway Ontology

signaling pathway

Participants
Query Drugst.One

Label Type Compact URI Comment
CTNNB1 GeneProduct ensembl:ENSG00000168036
ILK GeneProduct ensembl:ENSG00000166333
GATA3 GeneProduct ensembl:ENSG00000107485
ETV4 GeneProduct ensembl:ENSG00000175832
FREM2 GeneProduct ensembl:ENSG00000150893
GRIP1 GeneProduct ensembl:ENSG00000155974
VANGL2 GeneProduct ensembl:ENSG00000162738
CELSR1 GeneProduct ensembl:ENSG00000075275
ROBO1 GeneProduct ensembl:ENSG00000169855
FAT4 GeneProduct ensembl:ENSG00000196159
LHX1 GeneProduct ensembl:ENSG00000273706
ITGB1 GeneProduct ensembl:ENSG00000150093
FGFR2 GeneProduct ensembl:ENSG00000066468
ROBO2 GeneProduct ensembl:ENSG00000185008
GPC3 GeneProduct ensembl:ENSG00000147257
FOXC1 GeneProduct ensembl:ENSG00000054598
HOXD11 GeneProduct ensembl:ENSG00000128713
BMP5 GeneProduct ensembl:ENSG00000112175 found only in mouse so far
CCND1 GeneProduct ensembl:ENSG00000110092 CyclinD1
WT1 GeneProduct ensembl:ENSG00000184937
RARA GeneProduct ensembl:ENSG00000131759
SHH GeneProduct ensembl:ENSG00000164690
RET GeneProduct ensembl:ENSG00000165731
BMP4 GeneProduct ensembl:ENSG00000125378
GREB1L GeneProduct ensembl:ENSG00000141449
RARG GeneProduct ensembl:ENSG00000172819
PBX1 GeneProduct ensembl:ENSG00000185630
GDF11 GeneProduct ensembl:ENSG00000135414
FST GeneProduct ensembl:ENSG00000134363 found only in mouse so far
CTDNEP1 GeneProduct ensembl:ENSG00000175826 found only in mouse so far
MYCN GeneProduct ensembl:ENSG00000134323 N-MYC
TGFB2 GeneProduct ensembl:ENSG00000092969
BMPER GeneProduct ensembl:ENSG00000164619
CRIM1 GeneProduct ensembl:ENSG00000150938 found only in mouse so far
ANOS1 GeneProduct ensembl:ENSG00000011201 also known as KAL-1, KAL1
SIX1 GeneProduct ensembl:ENSG00000126778
ITGA8 GeneProduct ensembl:ENSG00000077943
SALL1 GeneProduct ensembl:ENSG00000103449
FRAS1 GeneProduct ensembl:ENSG00000138759
SPRY1 GeneProduct ensembl:ENSG00000164056
GREM1 GeneProduct ensembl:ENSG00000276886
BMPR1A GeneProduct ensembl:ENSG00000107779
SMAD1 GeneProduct ensembl:ENSG00000170365
BMP7 GeneProduct ensembl:ENSG00000101144 found only in mouse so far
EYA1 GeneProduct ensembl:ENSG00000104313
RARB GeneProduct ensembl:ENSG00000077092
HOXA11 GeneProduct ensembl:ENSG00000005073
SLIT2 GeneProduct ensembl:ENSG00000145147
WNT11 GeneProduct ensembl:ENSG00000085741
GFRA1 GeneProduct ensembl:ENSG00000151892
PAX2 GeneProduct ensembl:ENSG00000075891
GDNF GeneProduct ensembl:ENSG00000168621
BMP2 GeneProduct ensembl:ENSG00000125845 found only in mouse so far
GLI1 GeneProduct ensembl:ENSG00000111087
SMO GeneProduct ensembl:ENSG00000128602
BMPR2 GeneProduct ensembl:ENSG00000204217
GLI3 GeneProduct ensembl:ENSG00000106571
FREM1 GeneProduct ensembl:ENSG00000164946
SIX2 GeneProduct ensembl:ENSG00000170577
GLI2 GeneProduct ensembl:ENSG00000074047
TCF2 Protein uniprot:Q6FHW6

References

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  3. Proteinuria, hypertension and chronic renal failure in X-linked Kallmann’s syndrome, a defined genetic cause of solitary functioning kidney. Duke V, Quinton R, Gordon I, Bouloux PM, Woolf AS. Nephrol Dial Transplant. 1998 Aug;13(8):1998–2003. PubMed Europe PMC Scholia
  4. Anosmin-1 is a regionally restricted component of basement membranes and interstitial matrices during organogenesis: implications for the developmental anomalies of X chromosome-linked Kallmann syndrome. Hardelin JP, Julliard AK, Moniot B, Soussi-Yanicostas N, Verney C, Schwanzel-Fukuda M, et al. Dev Dyn. 1999 May;215(1):26–44. PubMed Europe PMC Scholia
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  13. Breakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects. Kiyozumi D, Sugimoto N, Sekiguchi K. Proc Natl Acad Sci U S A. 2006 Aug 8;103(32):11981–6. PubMed Europe PMC Scholia
  14. Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study. Weber S, Moriniere V, Knüppel T, Charbit M, Dusek J, Ghiggeri GM, et al. J Am Soc Nephrol. 2006 Oct;17(10):2864–70. PubMed Europe PMC Scholia
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