PTCH2 wt Allele

Preferred Label : PTCH2 wt Allele;

NCIt synonyms : Patched (Drosophila) Homolog 2 Gene; Patched Homolog 2 (Drosophila) Gene; PTC2; UNQ560/PRO1121/PRO57079; Patched, Drosophila, Homolog of, 2 Gene; Patched 2 wt Allele; Patched Homolog 2 Gene;

NCIt 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.;

GenBank Accession Number : NM_003738;

Details

Origin ID

C51296;

UMLS CUI

C1705228;

OMIM relation
- Patched 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_associated_with_disease
- Medulloblastoma [NCIt concept]
- Skin Basal Cell Carcinoma [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 1p33-p34 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Nevoid Basal Cell Carcinoma Syndrome [NCIt concept]
gene_is_element_in_pathway
- Basal Cell Carcinoma Pathway [NCIt concept]
- Hedgehog Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Intercellular Communication Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Receptor Signaling [NCIt concept]

Keyword's position in hierarchy(ies) :

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