Human Gene Set: KEGG_BASAL_CELL_CARCINOMA


Standard name KEGG_BASAL_CELL_CARCINOMA
Systematic name M17807
Brief description Basal cell carcinoma
Full description or abstract The development of basal cell carcinoma is associated with constitutive activation of sonic hedgehog signaling. Normally, ligand-dependent signaling by Hedgehog (Hh) homologs proceeds through binding to the Patched receptor. This binding relieves the Patched-mediated inhibition of signaling through the Smoothened (SMOH) gene product. This signaling ultimately results in the dissociation of the Gli1 transcription factor from an inhibitory complex in the cytoplasm, its subsequent translocation to the nucleus, and activation of target gene expression. The mutations in SMOH, PTCH1, and SHH in BCCs result in continuous activation of target genes. At a cellular level, sonic hedgehog signaling promotes cell proliferation. Mutations in TP53 are also found with high frequency (>50%) in sporadic BCC.
Collection C2: Curated
      CP: Canonical Pathways
            CP:KEGG_LEGACY: KEGG Legacy Pathways
Source publication  
Exact source hsa05217
Related gene sets  
External links http://www.genome.jp/pathway/hsa05217
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Source species Homo sapiens
Contributed by KEGG (Kyoto Encyclopedia of Genes and Genomes)
Source platform or
identifier namespace
Human_NCBI_Gene_ID
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GTEx compendium
Human tissue compendium (Novartis)
Global Cancer Map (Broad Institute)
NCI-60 cell lines (National Cancer Institute)
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Version history  

The content of the gene sets in the KEGG_LEGACY collection has not been updated since KEGG restricted their usage terms in 2011. More recent sets are available in the KEGG_MEDICUS collection, derived from KEGG's openly available MEDICUS subset.



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MSigDB gene sets derived from Legacy KEGG pathways are protected by copyright, (c) 1995-2017 Kanehisa Laboratories, all rights reserved. They are provided for use in the MSigDB collection under license to the Broad Institute, Inc., with qualified permission to include in this release. End users are directed to http://www.pathway.jp/ and http://www.kegg.jp/kegg/docs/plea.html for information on the copyright holder's academic and commercial licensing policies. Inclusion of these gene sets herein is conditioned upon acknowledgment and retention of the aforementioned copyright, and compliance with such policies. These KEGG derived gene sets are in a subcollection MSigDB C2 named "KEGG_LEGACY", and can be recognized by the "KEGG_" prefix (without "MEDICUS") in their name.

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