Gene table of PTCH2 : patched 2

Gene-disease associations table

Disease IDDisease nameSource of annotation with PTCH2OMIM linkNumber of associated genesgenes
109400BASAL CELL NEVUS SYNDROMEClinVar, OMIM link to OMIM 3PTCH2, PTCH1, SUFU
155255MEDULLOBLASTOMAOMIM link to OMIM 5APC, BRCA2, CTNNB1, PTCH2, SUFU
605462BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1OMIM link to OMIM 4RASA1, PTCH2, PTCH1, SMO

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Annotation of the gene PTCH2

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Hedgehog signaling pathwayhsa043407.01
Pathways in cancerhsa052003.98
Basal cell carcinomahsa052176.79
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Class B/2 (Secretin family receptors)R-HSA-3730806.52
GPCR ligand bindingR-HSA-5007924.19
Signal TransductionR-HSA-1625821.78
Signaling by GPCRR-HSA-3727902.68
Associated GO terms for Molecular function
GO termGO IDGO IC
hedgehog family protein bindingGO:00971088.64
signaling receptor activityGO:00380232.49
signal transducer activityGO:00048712.28
smoothened bindingGO:00051198.64
molecular transducer activityGO:00600892.32
transmembrane signaling receptor activityGO:00048882.57
receptor activityGO:00048722.32
protein bindingGO:00055150.46
receptor bindingGO:00051022.43
hedgehog receptor activityGO:00081588.64
transmembrane receptor activityGO:00996002.53
bindingGO:00054880.18