PTCH2
Summary: This gene encodes a transmembrane receptor of the patched gene family. The encoded protein may function as a tumor suppressor in the hedgehog signaling pathway. Alterations in this gene have been associated with nevoid basal cell carcinoma syndrome, basal cell carcinoma, medulloblastoma, and susceptibility to congenital macrostomia. Alternatively spliced transcript variants have been described.[provided by RefSeq, Oct 2009].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| patched 2 | MIM:603673 | Ensembl:ENSG00000117425 | HGNC:HGNC:9586 | PA33938 | 1p34.1 |
GO terms in PTCH2
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IBA | GO:0005119 | smoothened binding |
| MF | IPI | GO:0005119 | smoothened binding |
| MF | IBA | GO:0008158 | hedgehog receptor activity |
| MF | TAS | GO:0008158 | hedgehog receptor activity |
| MF | IBA | GO:0097108 | hedgehog family protein binding |
| MF | IPI | GO:0097108 | hedgehog family protein binding |
| MF | TAS | GO:0097108 | hedgehog family protein binding |
| CC | IBA | GO:0005886 | plasma membrane |
| CC | IEA | GO:0016021 | integral component of membrane |
| BP | IEA | GO:0001709 | cell fate determination |
| BP | IEA | GO:0007165 | signal transduction |
| BP | IBA | GO:0007224 | smoothened signaling pathway |
| BP | IEA | GO:0009957 | epidermal cell fate specification |
| BP | IEA | GO:0042633 | hair cycle |
| BP | IEA | GO:0043588 | skin development |
| BP | IEA | GO:0045606 | positive regulation of epidermal cell differentiation |
| BP | TAS | GO:0045879 | negative regulation of smoothened signaling pathway |
Gene expression in normal tissue: PTCH2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in PTCH2
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP3313 | Hedgehog ,on, state |
| wikipathways | WP4249 | Hedgehog Signaling Pathway |
| wikipathways | WP47 | Hedgehog Signaling Pathway |
| netpath | Pathway_Hedgehog | Hedgehog |
| pid | hedgehog_2pathway | Signaling events mediated by the Hedgehog family |
| kegg | hsa04340 | Hedgehog signaling pathway - Homo sapiens (human) |
| kegg | hsa05200 | Pathways in cancer - Homo sapiens (human) |
| kegg | hsa05217 | Basal cell carcinoma - Homo sapiens (human) |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-372790 | Signaling by GPCR |
| reactome | R-HSA-373080 | Class B/2 (Secretin family receptors) |
| reactome | R-HSA-500792 | GPCR ligand binding |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD151 | CHM-1 | 3 |
| iGMDRD433 | Lexibulin | 2 |
| iGMDRD84 | Lovastatin acid | 3 |
| iGMDRD126 | Tipifarnib | 2 |
| iGMDRD579 | PF750 | 2 |
| iGMDRD424 | Tamatinib | 1 |
| iGMDRD446 | LY 2183240 | 5 |
| iGMDRD193 | Fqi1 | 4 |
| iGMDRD123 | Isoevodiamine | 5 |
| iGMDRD297 | Austocystin D | 1 |
| iGMDRD154 | NSC23766 | 4 |
| iGMDRD138 | PX 12 | 1 |
| iGMDRD137 | Indisulam | 1 |
| iGMDRD103 | SN-38 | 3 |
| iGMDRD247 | Blebbistatin | 2 |
| iGMDRD802 | 4-methylfasudil | 2 |
| iGMDRD5 | Tyrphostin AG 1478 | 3 |
| iGMDRD260 | FQI-2 | 2 |
| iGMDRD870 | BRD63610 | 3 |
| iGMDRD318 | PAC-1 | 3 |
| iGMDRD399 | Selumetinib | 2 |
| iGMDRD74 | Idarubicin | 1 |
| iGMDRD100 | Zebularine | 3 |
| iGMDRD269 | Purmorphamine | 2 |
| iGMDRD506 | Fedratinib | 3 |
| iGMDRD64 | Parbendazole | 4 |
| iGMDRD524 | ISX-9 | 2 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in PTCH2
CLASSFICATION
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