InnateDB Protein
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IDBP-97816.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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PTCH2
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Protein Name
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patched 2
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Synonyms
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PTC2;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000361266
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InnateDB Gene
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IDBG-97812 (PTCH2)
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Protein Structure
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Function |
May have a role in epidermal development. May act as a receptor for Sonic hedgehog (SHH).
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Subcellular Localization |
Membrane; Multi-pass membrane protein.
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Disease Associations |
Medulloblastoma (MDB) [MIM:155255]: Malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children. Note=The disease is caused by mutations affecting the gene represented in this entry.Basal cell carcinoma (BCC) [MIM:605462]: A common malignant skin neoplasm that typically appears on hair-bearing skin, most commonly on sun-exposed areas. BCC is slow growing and rarely metastasizes, but has potentialities for local invasion and destruction. It usually develops as a flat, firm, pale area that is small, raised, pink or red, translucent, shiny, and waxy, and the area may bleed following minor injury. Tumor size can vary from a few millimeters to several centimeters in diameter. {ECO:0000269PubMed:9931336}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
3
[view]
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Protein-Protein |
2
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
1
[view]
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR000731
Sterol-sensing domain
IPR003392
Patched
IPR004766
Transmembrane receptor, patched
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PFAM |
PF02460
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9Y6C5
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PhosphoSite |
PhosphoSite-Q9Y6C5
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
8643
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UniGene |
Hs.591497
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RefSeq |
NP_003729
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HUGO |
HGNC:9586
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OMIM |
603673
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CCDS |
CCDS516
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HPRD |
04722
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IMGT |
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EMBL |
AF087651
AF091501
AF119569
AL136380
AL592166
AY358555
AY359016
AY438664
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GenPept |
AAC79847
AAD17260
AAD25953
AAQ88919
AAQ89375
AAR05447
CAI13000
CAI23127
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