| URN | urn:agi-llid:8643 |
|---|---|
| Connectivity | 23 |
| Name | PTCH2 |
| Description | patched 2 |
| Notes | 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. |
| Pathway | Hedgehog signaling pathway |
|---|
| GO Molecular Function | receptor activity |
|---|---|
| transmembrane receptor activity | |
| hedgehog receptor activity |
| GO Cellular Component | membrane |
|---|---|
| integral to membrane | |
| integral to plasma membrane |
| GO Biological Process | epidermis development |
|---|---|
| skin development | |
| hair cycle | |
| spermatogenesis | |
| protein complex assembly |
| Ariadne Ontology | Patched |
|---|
| Group | Patched |
|---|---|
| epidermis development | |
| skin development | |
| hair cycle | |
| spermatogenesis | |
| protein complex assembly | |
| receptor activity | |
| transmembrane receptor activity | |
| hedgehog receptor activity | |
| membrane | |
| integral to membrane | |
| integral to plasma membrane |
| MedScan ID | 8643 |
|---|
| Hugo ID | 9586 |
|---|
| Human chromosome position | 1p33-p34 |
|---|
| LocusLink ID | 8643 |
|---|---|
| 19207 |
| Alias | PTC2 |
|---|---|
| RP11-269F19.8 | |
| protein patched homolog 2 | |
| patched homolog 2 | |
| RP23-59L24.2 | |
| OTTMUSP00000010515 | |
| OTTHUMP00000010158 | |
| patched (Drosophila) homolog 2 | |
| patched (Drosophila) homolog II | |
| patched 2 | |
| patched homolog 2 (Drosophila) | |
| patched homolog II | |
| patched II | |
| PTCH2 |
| Organism | Homo sapiens |
|---|---|
| Mus musculus |
| OMIM ID | 603673 |
|---|---|
| 605462 | |
| 155255 |
| Mouse chromosome position | 4 56.5 cM |
|---|
| GO ID | 0008158 |
|---|---|
| 0004888 | |
| 0008544 | |
| 0042633 | |
| 0006461 | |
| 0043588 | |
| 0007283 | |
| 0005887 | |
| 0016020 | |
| 0004872 | |
| 0016021 |
| Swiss-Prot Accession | Q9Y6C5 |
|---|---|
| Q5JR97 | |
| O35595 | |
| O95341 | |
| O95856 | |
| Q53Z57 | |
| Q5QP87 | |
| Q6UX14 | |
| A2AE82 | |
| Q546T0 |
| PIR ID | T13952 |
|---|
| Unigene ID | Hs.591497 |
|---|---|
| Mm.287037 |
| KEGG ID | hsa:8643 |
|---|---|
| mmu:19207 |
| Swiss-Prot ID | PTC2_HUMAN |
|---|---|
| PTC2_MOUSE | |
| A2AE82_MOUSE |
| Cell Localization | Membrane |
|---|---|
| Plasma membrane |
| IPI ID | IPI00419647 |
|---|---|
| IPI00471943 | |
| IPI00131879 | |
| IPI00844378 | |
| IPI00857403 | |
| IPI00885255 |
| Homologene ID | 37842 |
|---|
| RGD ID | 1604843 |
|---|
| MGI ID | 1095405 |
|---|