CLTC wt Allele

Preferred Label : CLTC wt Allele;

NCIt synonyms : CHC17; Clathrin, Heavy Chain Gene; Clathrin, Heavy Chain (Hc) Gene; CLTCL2; Clathrin, Heavy Polypeptide (Hc) Gene; CHC; CLH-17; KIAA0034; Clathrin, Heavy Polypeptide-Like 2 Gene; Clathrin Heavy Chain wt Allele;

NCIt definition : Human CLTC wild-type allele is located within 17q11-qter and is approximately 77 kb in length. This allele, which encodes clathrin heavy chain 1 protein, is involved in both receptor-mediated endocytosis and vesicle formation. A translocation t(2;17)(p23;q23) of this gene and the ALK gene is associated with anaplastic large cell lymphoma and inflammatory myofibroblastic tumors. Xp11 translocated renal carcinomas are associated with a translocation t(X;17)(p11;q23) of this gene and the TFE3 gene.;

GenBank Accession Number : X55878;

Details

Origin ID

C97413;

UMLS CUI

C3273402;

Automatic exact mappings (from CISMeF team)
- Clathrin, heavy polypeptide [OMIM gene]
- Cryohydrocytosis [OMIM Phenotype]
- clathrin heavy chain [ORDO Gene]
- clathrin heavy chains [MeSH Descriptor]
- colonic neoplasms [MeSH Descriptor]
- critical pathways [MeSH Descriptor]
OMIM relation
- Clathrin, heavy polypeptide [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 17q11-qter [NCIt concept]
gene_is_element_in_pathway
- Arf6 Trafficking Pathway [NCIt concept]
- Bacterial Invasion of Epithelial Cell Pathway [NCIt concept]
- Endocytosis Pathway [NCIt concept]
- FAS Signaling Pathway PID [NCIt concept]
- Huntington's Disease Pathway [NCIt concept]
- Lysosome Assembly Pathway [NCIt concept]
gene_plays_role_in_process
- Receptor Mediated Endocytosis [NCIt concept]

Keyword's position in hierarchy(ies) :

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