Human Gene PTCH2 (ENST00000447098.6) from GENCODE V44
Description: Homo sapiens patched 2 (PTCH2), transcript variant 2, mRNA. (from RefSeq NM_001166292) RefSeq Summary (NM_001166292): 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]. Gencode Transcript: ENST00000447098.6 Gencode Gene: ENSG00000117425.14 Transcript (Including UTRs) Position: hg38 chr1:44,819,844-44,842,944 Size: 23,101 Total Exon Count: 23 Strand: - Coding Region Position: hg38 chr1:44,820,689-44,842,932 Size: 22,244 Coding Exon Count: 23
ID:PTC2_HUMAN DESCRIPTION: RecName: Full=Protein patched homolog 2; Short=PTC2; FUNCTION: May have a role in epidermal development. May act as a receptor for Sonic hedgehog (SHH). SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. DISEASE: Defects in PTCH2 are a cause of medulloblastoma (MDB) [MIM:155255]. MDB is a malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children. Although the majority of medulloblastomas occur sporadically, some manifest within familial cancer syndromes such as Turcot syndrome and basal cell nevus syndrome (Gorlin syndrome). DISEASE: Defects in PTCH2 are a cause of sporadic basal cell carcinoma (BCC) [MIM:605462]. SIMILARITY: Belongs to the patched family. SIMILARITY: Contains 1 SSD (sterol-sensing) domain. WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org//Genes/PTCH2ID41892ch1p34.html"; WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/ptch2/";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9Y6C5
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.