Nephrogenesis (WP5052)
Homo sapiens
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).
Authors
Friederike EhrhartCited In
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Organism
Homo sapiensCommunities
Rare DiseasesAnnotations
Disease Ontology: kidney disease CAKUT
Pathway Ontology: Notch signaling pathway signaling pathway
Participants
| Label | Type | Compact Identifier | Comment |
|---|---|---|---|
| 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
- 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
- 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