loading...| Preferred Name |
PTCH2 wt Allele |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C51296 |
| code |
C51296 |
| DEFINITION |
Human PTCH2 wild-type allele is located within 1p33-p34 and is approximately 21 kb in length. This allele, which encodes protein patched homolog 2 protein, is involved in the formation of embryonic structures. Aberrant allelic expression has been linked to medulloblastoma and basal cell carcinoma, suggesting that variants play a role in the development of some tumors. |
| EntrezGene_ID |
8643 |
| FULL_SYN |
PTCH2 wt Allele Patched, Drosophila, Homolog of, 2 Gene Patched 2 wt Allele UNQ560/PRO1121/PRO57079 Patched (Drosophila) Homolog 2 Gene PTC2 Patched Homolog 2 (Drosophila) Gene |
| GenBank_Accession_Number |
NM_003738 |
| Gene_Encodes_Product |
Patched Homolog 2 |
| GO_Annotation |
spermatogenesis protein complex assembly transmembrane receptor activity integral to plasma membrane epidermal differentiation |
| label |
PTCH2 wt Allele |
| Legacy Concept Name |
PTCH2_wt_Allele |
| OMIM_Number |
603673 |
| Preferred_Name |
PTCH2 wt Allele |
| prefixIRI |
Thesaurus:C51296 |
| prefLabel |
PTCH2 wt Allele |
| Semantic_Type |
Gene or Genome |
| UMLS_CUI |
C1705228 |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| There are currently no mappings for this class. | |||