DSP wt Allele - CISMeF

Preferred Label : DSP wt Allele;

NCIt synonyms : Desmoplakin (DPI, DPII) Gene; DPII; PPKS2; KPPS2; DPI; Desmoplakin wt Allele;

NCIt definition : Human DSP wild-type allele is located in the vicinity of 6p24 and is approximately 45 kb in length. This allele, which encodes desmoplakin protein, plays a role in the regulation of protein-protein interactions in desmosome junctions. Mutations in the gene are associated with several keratodermas and cardiomyopathies.;

NCIt note : Mutation of the DSP gene is associated with autoimmune paraneoplastic pemphigus, palmoplantar keratoderma striate type 2, cardiomyopathy dilated with woolly hair and keratoderma, familial arrhythmogenic right ventricular dysplasia type 8, skin fragility-woolly hair syndrome, and lethal acantholytic epidermolysis bullosa.;

GenBank Accession Number : J05211;

Details

Origin ID

C88035;

UMLS CUI

C2981616;

Automatic exact mappings (from CISMeF team)
- (3,4-dihydroxyphenylamino)-2-imidazoline [MeSH Supplementary Concept]
- Keratosis palmoplantaris striata II [OMIM Phenotype]
- desmoplakin [ORDO Gene]
- electronic health records [MeSH Descriptor]
- preimplantation diagnosis [MeSH Descriptor]
OMIM relation
- Desmoplakin [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
- 6p24 [NCIt concept]
gene_is_element_in_pathway
- Arrhythmogenic Right Ventricular Cardiomyopathy Pathway [NCIt concept]
- MAP Kinase Regulation Pathway [NCIt concept]
- NFKB Activation Pathway [NCIt concept]
gene_plays_role_in_process
- Cell-Cell Adhesion Process [NCIt concept]
- Protein-Protein Interaction [NCIt concept]

Keyword's position in hierarchy(ies) :

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