Tgif disruption of Shh signaling (Homo sapiens)

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Mutations in the Sonic Hedgehog (SHH) gene result in HPE in humans and mice, and the Shh pathway is targeted by other mutations that cause holoprosencephaly (HPE). HPE is a severe human genetic disease affecting craniofacial development of children. The TGIF1 gene maps to the HPE4, and the heterozygous loss of the TGIF1 mutations are associated with HPE, however mouse models have yet to explain how the inhibition of TGIF causes the genetic disease Holoprosencephaly. Using a conditional Tgif1 allele, Taniguchi, et al. showed that mouse embryos lacking both Tgif1 and the related Tgif2 have HPE-like phenotypes reminiscent of Shh null embryos.

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Ontology Terms



  1. Taniguchi K, Anderson AE, Sutherland AE, Wotton D; ''Loss of Tgif function causes holoprosencephaly by disrupting the SHH signaling pathway.''; PLoS Genet, 2012 PubMed Europe PMC Scholia


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117841view15:13, 22 May 2021EweitzModified description
113712view14:06, 18 November 2020DeSlRemoved Krzeszinski paper from GPML
113711view14:04, 18 November 2020DeSlRemoved Krzeszinski publication and info thereof, since the paper has been retracted.
103865view22:02, 11 April 2019AlexanderPicoOntology Term : 'skeletogenic cell' added !
103864view22:02, 11 April 2019AlexanderPicoOntology Term : 'genetic disease' added !
103863view21:59, 11 April 2019AlexanderPicoadded ref
103862view21:57, 11 April 2019AlexanderPicoadded mir; updated description; reorganized; red inhibitions
88772view19:37, 14 August 2016AAR&CoModified description
88771view19:35, 14 August 2016AAR&CoOntology Term : 'altered Hedgehog signaling pathway' added !
88769view19:34, 14 August 2016AAR&CoModified description
87049view23:03, 17 July 2016AlexanderPicoOntology Term : 'signaling pathway' added !
87048view23:01, 17 July 2016AlexanderPicoReduced white space
87047view23:00, 17 July 2016AlexanderPicoPeriodical save, work in progress
86152view10:57, 2 July 2016EgonwReplaced a mim-conversion with Arrow.
86128view12:59, 1 July 2016AAR&CoModified description
86127view12:48, 1 July 2016AAR&CoNew pathway

External references


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NameTypeDatabase referenceComment
FGF8GeneProductENSG00000107831 (Ensembl)
FOXG1GeneProductENSG00000176165 (Ensembl)
GLI3GeneProductENSG00000106571 (Ensembl)
NKX2-1GeneProductENSG00000136352 (Ensembl)
NODALGeneProductENSG00000156574 (Ensembl)
SHHGeneProductENSG00000164690 (Ensembl)
SMAD2GeneProductENSG00000175387 (Ensembl)
TGIF1GeneProductENSG00000177426 (Ensembl)
TGIF2GeneProductENSG00000118707 (Ensembl)

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