Hypothetical craniofacial development pathway (Homo sapiens)

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1Cell MigrationEMTGEFGTPTP63TFAP2AGDPARHGAP29IRF6TGFB3RhoAWNTRHOA


Description

Hypothetical pathway linking cranio-facial development pathway (IRF6, TP63, TFAP2A, and TGFB3) to Rho signaling pathway through ARHGAP29 regulation. Authors of literature suspect that a decrease of ARHGAP29 concentration would result in more active form, Rho-GTP, which would down-regulate cranio-facial development genes. An implication of this active Rho-GTP may be the formation of cleft lip. This pathway is based on figure 4 from Leslie et al.

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Ontology Terms

 

Bibliography

  1. Leslie EJ, Mansilla MA, Biggs LC, Schuette K, Bullard S, Cooper M, Dunnwald M, Lidral AC, Marazita ML, Beaty TH, Murray JC; ''Expression and mutation analyses implicate ARHGAP29 as the etiologic gene for the cleft lip with or without cleft palate locus identified by genome-wide association on chromosome 1p22.''; Birth Defects Res A Clin Mol Teratol, 2012 PubMed Europe PMC Scholia

History

View all...
CompareRevisionActionTimeUserComment
129299view22:56, 25 March 2024Khanspersupdated Wnt node, updated xrefs, improved layout
117757view12:52, 22 May 2021EweitzModified title
106749view13:23, 17 September 2019MaintBotHMDB identifier normalization
88473view23:28, 9 August 2016AAR&CoOntology Term : 'cleft lip' added !
88472view23:28, 9 August 2016AAR&CoOntology Term : 'signaling pathway' added !
88471view23:27, 9 August 2016AAR&CoOntology Term : 'signaling pathway pertinent to development' added !
88470view23:26, 9 August 2016AAR&CoEdited Interactions and Labels
85922view18:12, 21 June 2016AAR&CoModified description
85785view13:26, 13 June 2016AAR&CoModified description
85784view13:16, 13 June 2016AAR&CoAdded Literature Citation
85783view13:06, 13 June 2016AAR&CoNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
ARHGAP29GeneProductENSG00000137962 (Ensembl)
GDPMetaboliteHMDB00960 (HMDB)
GEFGeneProductENSG00000275340 (Ensembl)
GTPMetaboliteHMDB01440 (HMDB)
IRF6GeneProductENSG00000117595 (Ensembl)
RHOAGeneProductENSG00000067560 (Ensembl)
RhoAGeneProductENSG00000067560 (Ensembl)
TFAP2AGeneProductENSG00000137203 (Ensembl)
TGFB3GeneProductENSG00000119699 (Ensembl)
TP63GeneProductENSG00000073282 (Ensembl)
WNTGeneProductENSG00000125084 (Ensembl) WNT Not Specified

Annotated Interactions

No annotated interactions

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