DOCK2 wt Allele

Preferred Label : DOCK2 wt Allele;

NCIt synonyms : Dedicator of Cytokinesis 2 wt Allele; Dedicator of Cyto-Kinesis 2 Gene; IMD40; KIAA0209;

NCIt definition : Human DOCK2 wild-type allele is located in the vicinity of 5q35.1 and is approximately 446 kb in length. This allele, which encodes dedicator of cytokinesis protein 2, plays a role in the promotion of cytokine-responsive cytoskeletal modeling. Mutation of the gene is associated with immunodeficiency 40.;

NCI Metathesaurus CUI : CL1642363;

GenBank Accession Number : BC016996;

Details

Origin ID

C176501;

UMLS CUI

C5443867;

Automatic exact mappings (from CISMeF team)
- Immunodeficiency 40 [OMIM Phenotype]
- dedicator of cytokinesis 2 [ORDO Gene]
- immunodeficiency 40 [DO Concept]
OMIM relation
- Dedicator of cytokinesis 2 [OMIM gene]
See also inter- (CISMeF)
- Dedicator of cytokinesis 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 5q35.1 [NCIt concept]
gene_is_element_in_pathway
- Chemokine Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Cell-Mediated Immunity [NCIt concept]
- Cytoskeletal Modeling [NCIt concept]
- Signal Transduction [NCIt concept]
- T-Cell Differentiation [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients