STANDARD_NAME KEGG_BASAL_CELL_CARCINOMA SYSTEMATIC_NAME M17807 COLLECTION C2:CP:KEGG_LEGACY MSIGDB_URL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/KEGG_BASAL_CELL_CARCINOMA NAMESPACE Human_NCBI_Gene_ID DESCRIPTION_BRIEF Basal cell carcinoma DESCRIPTION_FULL 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. PMID GEOID AUTHORS CONTRIBUTOR KEGG CONTRIBUTOR_ORG Kyoto Encyclopedia of Genes and Genomes EXACT_SOURCE hsa05217 FILTERED_BY_SIMILARITY EXTERNAL_NAMES_FOR_SIMILAR_TERMS EXTERNAL_DETAILS_URL http://www.genome.jp/kegg/pathway/hsa/hsa05217.html SOURCE_MEMBERS 10297,11211,1499,1855,1856,1857,2535,27148,2735,2736,2737,2932,324,51176,51384,51684,54361,5727,64399,6469,650,652,6608,6932,6934,7157,7471,7472,7473,7474,7475,7476,7477,7478,7479,7480,7481,7482,7483,7484,7855,7976,80326,81029,8312,8313,8321,8322,8323,8324,8325,8326,83439,8643,89780 GENE_SYMBOLS APC2,FZD10,CTNNB1,DVL1,DVL2,DVL3,FZD2,STK36,GLI1,GLI2,GLI3,GSK3B,APC,LEF1,WNT16,SUFU,WNT4,PTCH1,HHIP,SHH,BMP2,BMP4,SMO,TCF7,TCF7L2,TP53,WNT1,WNT2,WNT3,WNT5A,WNT6,WNT7A,WNT7B,WNT8A,WNT8B,WNT10B,WNT11,WNT2B,WNT9A,WNT9B,FZD5,FZD3,WNT10A,WNT5B,AXIN1,AXIN2,FZD1,FZD4,FZD6,FZD7,FZD8,FZD9,TCF7L1,PTCH2,WNT3A FOUNDER_NAMES