Hypothetical craniofacial development pathway (WP3655)

Homo sapiens

Open in new tab Open in NDEx Open in Newt (SBGN)
Download PNG Download SVG Download JSON Download GPML Learn more about Downloads
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 , Eric Weitz , and Kristina Hanspers

Activity

last edited

Discuss this pathway

Check for ongoing discussions or start your own.

Cited In

Are you planning to include this pathway in your next publication? See How to Cite and add a link here to your paper once it's online.

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 URI Comment
GTP Metabolite hmdb:HMDB0001440
GDP Metabolite hmdb:HMDB0000960
RHOA GeneProduct hgnc.symbol:RHOA
ARHGAP29 GeneProduct hgnc.symbol:ARHGAP29
IRF6 GeneProduct hgnc.symbol:IRF6
GEF GeneProduct hgnc.symbol:ARHGEF2
TFAP2A GeneProduct hgnc.symbol:TFAP2A
TP63 GeneProduct hgnc.symbol:TP63
TGFB3 GeneProduct hgnc.symbol:TGFB3

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