Development of ureteric collection system (Homo sapiens)

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81211512411186, 913191411221121761124211111222527BMP signalingcascade with role in CAKUTother known genesthat can cause CAKUTif loss/decrease of function mutation occursSHH/SMO axisKallmann syndromePallister–Hall syndromeFraser syndrome pathway22CTNNB1CyclopamineHOXD11ITGA8BMP7TGFB2FRAS1WNT11TCF2ILKRARBGATA3FOXC1FGFR2SMAD1ITGB1CTDNEP1ANOS1CRIM1PAX2SALL1SHHWT1FAT4GLI1GDNFBMP4GREM1ROBO2GLI3EYA1RARAGPC3BMPR1AHOXA11RETBMP2CELSR1CCND1ETV4FSTSMOPBX1SPRY1GDF11GRIP1ROBO1GFRA1RARGFREM2GREB1LMYCNVANGL2SIX1SLIT2LHX1BMP5BMPR2BMPER2, 522923231710, 203, 16, 24, 262, 2817230control branchingof uretric systemFRAS1FREM1SIX2425GLI266required for normalkidney developmentGLI3 is required in the ureteric cell lineage to decrease renal branching morphogenesis1111111111121


Description

This pathway describes the gene signalling 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).

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Bibliography

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History

View all...
CompareRevisionActionTimeUserComment
118778view15:59, 1 June 2021FehrhartOntology Term : 'CAKUT' added !
118774view15:50, 1 June 2021Fehrhartadded PBX1
118771view15:44, 1 June 2021Fehrhartadded reference for EYA1
118768view15:38, 1 June 2021Fehrhartupdate SIX1 and EYA1 information
118762view14:58, 1 June 2021Fehrhart
118761view14:47, 1 June 2021Fehrhartupdated with BMP pathway information
115549view16:13, 26 February 2021Fehrhartminor graphical adjustment
115389view12:13, 17 February 2021Fehrhartadded TGFB2 and references
115388view11:53, 17 February 2021Fehrhartadded new reference
115387view11:47, 17 February 2021Fehrhartwork in progress
115308view14:41, 11 February 2021Fehrhartfixed unconnected line
115307view14:40, 11 February 2021FehrhartModified description
115306view14:37, 11 February 2021Fehrhartwork in progress
115305view14:28, 11 February 2021FehrhartModified title
115285view18:37, 9 February 2021Fehrhartwork in progress
115284view18:30, 9 February 2021Fehrhartwork in progress
115283view18:15, 9 February 2021Fehrhartwork in progress
115259view09:18, 8 February 2021FehrhartModified description
115252view09:01, 8 February 2021FehrhartOntology Term : 'kidney disease' added !
115251view09:01, 8 February 2021FehrhartOntology Term : 'signaling pathway' added !
115250view08:48, 8 February 2021FehrhartNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
ANOS1GeneProductENSG00000011201 (Ensembl) also known as KAL-1, KAL1
BMP2GeneProductENSG00000125845 (Ensembl) found only in mouse so far
BMP4GeneProductENSG00000125378 (Ensembl)
BMP5GeneProductENSG00000112175 (Ensembl) found only in mouse so far
BMP7GeneProductENSG00000101144 (Ensembl) found only in mouse so far
BMPERGeneProductENSG00000164619 (Ensembl)
BMPR1AGeneProductENSG00000107779 (Ensembl)
BMPR2GeneProductENSG00000204217 (Ensembl)
CCND1GeneProductENSG00000110092 (Ensembl) CyclinD1
CELSR1GeneProductENSG00000075275 (Ensembl)
CRIM1GeneProductENSG00000150938 (Ensembl) found only in mouse so far
CTDNEP1GeneProductENSG00000175826 (Ensembl) found only in mouse so far
CTNNB1GeneProductENSG00000168036 (Ensembl)
CyclopamineMetaboliteCHEBI:4021 (ChEBI)
ETV4GeneProductENSG00000175832 (Ensembl)
EYA1GeneProductENSG00000104313 (Ensembl)
FAT4GeneProductENSG00000196159 (Ensembl)
FGFR2GeneProductENSG00000066468 (Ensembl)
FOXC1GeneProductENSG00000054598 (Ensembl)
FRAS1GeneProductENSG00000138759 (Ensembl)
FREM1GeneProductENSG00000164946 (Ensembl)
FREM2GeneProductENSG00000150893 (Ensembl)
FSTGeneProductENSG00000134363 (Ensembl) found only in mouse so far
GATA3GeneProductENSG00000107485 (Ensembl)
GDF11GeneProductENSG00000135414 (Ensembl)
GDNFGeneProductENSG00000168621 (Ensembl)
GFRA1GeneProductENSG00000151892 (Ensembl)
GLI1GeneProductENSG00000111087 (Ensembl)
GLI2GeneProductENSG00000074047 (Ensembl)
GLI3GeneProductENSG00000106571 (Ensembl)
GPC3GeneProductENSG00000147257 (Ensembl)
GREB1LGeneProductENSG00000141449 (Ensembl)
GREM1GeneProductENSG00000276886 (Ensembl)
GRIP1GeneProductENSG00000155974 (Ensembl)
HOXA11GeneProductENSG00000005073 (Ensembl)
HOXD11GeneProductENSG00000128713 (Ensembl)
ILKGeneProductENSG00000166333 (Ensembl)
ITGA8GeneProductENSG00000077943 (Ensembl)
ITGB1GeneProductENSG00000150093 (Ensembl)
LHX1GeneProductENSG00000273706 (Ensembl)
MYCNGeneProductENSG00000134323 (Ensembl) N-MYC
PAX2GeneProductENSG00000075891 (Ensembl)
PBX1GeneProductENSG00000185630 (Ensembl)
RARAGeneProductENSG00000131759 (Ensembl)
RARBGeneProductENSG00000077092 (Ensembl)
RARGGeneProductENSG00000172819 (Ensembl)
RETGeneProductENSG00000165731 (Ensembl)
ROBO1GeneProductENSG00000169855 (Ensembl)
ROBO2GeneProductENSG00000185008 (Ensembl)
SALL1GeneProductENSG00000103449 (Ensembl)
SHHGeneProductENSG00000164690 (Ensembl)
SIX1GeneProductENSG00000126778 (Ensembl)
SIX2GeneProductENSG00000170577 (Ensembl)
SLIT2GeneProductENSG00000145147 (Ensembl)
SMAD1GeneProductENSG00000170365 (Ensembl)
SMOGeneProductENSG00000128602 (Ensembl)
SPRY1GeneProductENSG00000164056 (Ensembl)
TCF2ProteinQ6FHW6 (Uniprot-TrEMBL)
TGFB2GeneProductENSG00000092969 (Ensembl)
VANGL2GeneProductENSG00000162738 (Ensembl)
WNT11GeneProductENSG00000085741 (Ensembl)
WT1GeneProductENSG00000184937 (Ensembl)

Annotated Interactions

No annotated interactions

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