PDE4D wt Allele

Preferred Label : PDE4D wt Allele;

NCIt synonyms : Phosphodiesterase 4D wt Allele; PDE43; Phosphodiesterase 4D, cAMP-Specific (Dunce (Drosophila)-Homolog Phosphodiesterase E3) Gene; Phosphodiesterase 4D, cAMP-Specific (Phosphodiesterase E3 Dunce Homolog, Drosophila) Gene; HSPDE4D; STRK1; Phosphodiesterase 4D, cAMP-Specific Gene; ACRDYS2; PDE4DN2; Phosphodiesterase E3 Dunce Homolog (Drosophila) Gene; DPDE3;

NCIt definition : Human PDE4D wild-type allele is located in the vicinity of 5q12 and is approximately 1553 kb in length. This allele, which encodes cAMP-specific 3',5'-cyclic phosphodiesterase 4D protein, plays a role in the modulation of second messenger signaling. Mutation of the gene is associated with acrodysostosis 2 and increased susceptibility to stroke.;

NCIt note : Deletion mutations in the PDE4D gene may be associated with both lung adenocarcinoma and squamous cell lung carcinomas. (Nature Genetics. 2016; 48:607-616);

NCI Metathesaurus CUI : CL520318;

GenBank Accession Number : NM_006203;

Details

Origin ID

C132038;

UMLS CUI

C4321439;

Automatic exact mappings (from CISMeF team)
- Acrodysostosis 2 with or without hormone resistance [OMIM Phenotype]
- Phosphodiesterase 4d [OMIM gene]
- Stroke, susceptibility to, 1 [OMIM Phenotype]
- acrodysostosis [MeSH Supplementary Concept]
- phosphodiesterase 4D [ORDO Gene]
OMIM relation
- Phosphodiesterase 4d [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 5q12 [NCIt concept]
gene_is_element_in_pathway
- Purine Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- G Protein-Coupled Receptor Signaling [NCIt concept]
- Hydrolysis [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients