Hypothetical craniofacial development pathway (WP3655)

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.

Authors

AAR&Co and Eric Weitz

Activity

last edited

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Organisms

Homo sapiens

Communities

Annotations

Pathway Ontology

signaling pathway signaling pathway pertinent to development

Disease Ontology

cleft lip

Participants
Query Drugst.One

Label Type Compact Identifier Comment
GTP Metabolite hmdb:HMDB0001440
GDP Metabolite hmdb:HMDB0000960
RhoA GeneProduct ensembl:ENSG00000067560
ARHGAP29 GeneProduct ensembl:ENSG00000137962
IRF6 GeneProduct ensembl:ENSG00000117595
GEF GeneProduct ensembl:ENSG00000275340
TFAP2A GeneProduct ensembl:ENSG00000137203
TP63 GeneProduct ensembl:ENSG00000073282
WNT GeneProduct ensembl:ENSG00000125084 WNT Not Specified
RHOA GeneProduct ensembl:ENSG00000067560
TGFB3 GeneProduct ensembl:ENSG00000119699

References

  1. 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. Leslie EJ, Mansilla MA, Biggs LC, Schuette K, Bullard S, Cooper M, et al. Birth Defects Res A Clin Mol Teratol. 2012 Nov;94(11):934–42. PubMed Europe PMC Scholia