DIAPH3 wt Allele

Preferred Label : DIAPH3 wt Allele;

NCIt synonyms : AN; Diaphanous, Drosophila, Homolog of, 3 Gene; Diaphanous Homolog 3 (Drosophila) Gene; FLJ34705; DRF3; DIAP3; Diaphanous (Drosophila, Homolog) 3 Gene; mDia2; NSDAN; Diaphanous-Related Formin 3 wt Allele; DIA2; Diaphanous Homolog 3 Gene; Auditory Neuropathy, Autosomal Dominant 1 Gene; AUNA1;

NCIt definition : Human DIAPH3 wild-type allele is located in the vicinity of 13q21.2 and is approximately 498 kb in length. This allele, which encodes protein diaphanous homolog 3, is involved in cytoskeletal dynamics, signaling molecule localization and cell division. Mutation of the gene is associated with autosomal dominant auditory neuropathy 1.;

NCI Metathesaurus CUI : CL514358;

GenBank Accession Number : AL137718;

Details

Origin ID

C131338;

UMLS CUI

C4321249;

Automatic exact mappings (from CISMeF team)
- Adenine [LOINC component]
- Diaphanous homolog 2 (Drosophila) [ORDO Gene]
- Diaphanous-related formin 2 [OMIM gene]
- Diaphanous-related formin 3 [OMIM gene]
- adenine [MeSH Descriptor]
- autosomal dominant auditory neuropathy 1 [DO Concept]
- diaphanous related formin 3 [ORDO Gene]
- electrodes [MeSH Descriptor]
OMIM relation
- Diaphanous-related formin 3 [OMIM gene]
See also inter- (CISMeF)
- Auditory neuropathy, autosomal dominant 1 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Actin Cytoskeleton Regulation Pathway [NCIt concept]
gene_plays_role_in_process
- Cytoskeletal Process [NCIt concept]
- Protein-Protein Interaction [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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