Hypothetical Craniofacial Development Pathway (Homo sapiens)

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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



  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


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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


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NameTypeDatabase referenceComment
ARHGAP29GeneProductENSG00000137962 (Ensembl)
Cell MigrationPathwayIdentifier Not Found
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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