NEUROD2 wt Allele

Preferred Label : NEUROD2 wt Allele;

NCIt synonyms : Neurogenic Differentiation 2 Gene; BHLHA1; Neuronal Differentiation 2 wt Allele; DEE72; EIEE72; NDRF;

NCIt definition : Human NEUROD2 wild-type allele is located in the vicinity of 17q12 and is approximately 6 kb in length. This allele, which encodes neurogenic differentiation factor 2 protein, is involved in the establishment and maturation of neurons. Mutation of the gene is associated with developmental and epileptic encephalopathy 72.;

NCI Metathesaurus CUI : CL1773947;

GenBank Accession Number : U58681;

Details

Origin ID

C185603;

UMLS CUI

C5575290;

Automatic exact mappings (from CISMeF team)
- developmental and epileptic encephalopathy 72 [DO Concept]
- neuronal differentiation 2 [ORDO Gene]
OMIM relation
- Neurogenic differentiation 2 [OMIM gene]
See also inter- (CISMeF)
- Developmental and epileptic encephalopathy 72 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 17q12 [NCIt concept]
gene_plays_role_in_process
- DNA Binding [NCIt concept]
- Neural Development [NCIt concept]
- Transcriptional Activation [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients