LAMP2 wt Allele

Preferred Label : LAMP2 wt Allele;

NCIt synonyms : LGP110; LAMP-2; Lysosomal-Associated Membrane Protein 2 wt Allele; LAMPB; CD107b;

NCIt definition : Human LAMP2 wild-type allele is located in the vicinity of Xq24 and is approximately 43 kb in length. This allele, which encodes lysosome-associated membrane glycoprotein 2, is involved in the maintenance of the lysosome. Mutation of the gene is associated with Danon disease.;

GenBank Accession Number : X77196;

Details

Origin ID

C116023;

UMLS CUI

C3890213;

Automatic exact mappings (from CISMeF team)
- CD107b cells [LOINC component]
- Lysosomal-Associated membrane protein 2 [MeSH Descriptor]
- Lysosome-associated membrane protein 2 [OMIM gene]
- lysosomal associated membrane protein 2 [ORDO Gene]
OMIM relation
- Lysosome-associated membrane protein 2 [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
- Xq24 [NCIt concept]
gene_is_element_in_pathway
- Lysosome Assembly Pathway [NCIt concept]
- Phagocytosis Pathway [NCIt concept]

Keyword's position in hierarchy(ies) :

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