Nephrogenesis (WP5052)

This pathway describes the gene signalling pathways active in early nephrogenesis in human development. Mutations in essential genes can lead to development of CAKUT (congenital anomalies of the kidney and urinary tract).
last edited

Authors

Fehrhart

Cited In

Organism

Homo sapiens

Communities

Rare Diseases

Annotations

Disease Ontology: kidney disease CAKUT

Pathway Ontology: Notch signaling pathway signaling pathway

Participants

Label Type Compact Identifier
OSR1 GeneProduct ensembl:ENSG00000143867
FGF20 GeneProduct ensembl:ENSG00000078579
GREB1L GeneProduct ensembl:ENSG00000141449
SIX2 GeneProduct ensembl:ENSG00000170577
BMP7 GeneProduct ensembl:ENSG00000101144
FOXD1 GeneProduct ensembl:ENSG00000251493
TCF21 GeneProduct ensembl:ENSG00000118526
MEIS1 GeneProduct ensembl:ENSG00000143995
ALDH1A2 GeneProduct ensembl:ENSG00000128918
RSPO1 GeneProduct ensembl:ENSG00000169218
FGF8 GeneProduct ensembl:ENSG00000107831
JAG1 GeneProduct ensembl:ENSG00000101384
PAX2 GeneProduct ensembl:ENSG00000075891
RSPO3 GeneProduct ensembl:ENSG00000146374
WNT9B GeneProduct ensembl:ENSG00000158955
WNT4 GeneProduct ensembl:ENSG00000162552
LHX1 GeneProduct ensembl:ENSG00000274577
WNT3A GeneProduct ensembl:ENSG00000154342
NOTCH2 GeneProduct ensembl:ENSG00000134250

References

  1. Cheng H-T, Kim M, Valerius MT, Surendran K, Schuster-Gossler K, Gossler A, et al. Notch2, but not Notch1, is required for proximal fate acquisition in the mammalian nephron. Development. 2007 Feb;134(4):801–11. PubMed Europe PMC Scholia
  2. Vivante A, Mark-Danieli M, Davidovits M, Harari-Steinberg O, Omer D, Gnatek Y, et al. Renal hypodysplasia associates with a WNT4 variant that causes aberrant canonical WNT signaling. J Am Soc Nephrol. 2013 Mar;24(4):550–8. PubMed Europe PMC Scholia