EGR2 wt Allele

Preferred Label : EGR2 wt Allele;

NCIt synonyms : KROX20; Early Growth Response 2 wt Allele; KROX-20, Drosophila, Homolog (Early Growth Response-2) Gene; AT591; CMT4E; CMT1D; Early Growth Response 2 (Krox-20 Homolog, Drosophila) Gene;

NCIt definition : Human EGR2 wild-type allele is located in the vicinity of 10q21.1 and is approximately 108 kb in length. This allele, which encodes E3 SUMO-protein ligase EGR2 protein, is involved in the regulation of both gene transcription and protein modification. Mutation of the gene is associated with Charcot-Marie-Tooth disease type 1D (CMT1D), Charcot-Marie-Tooth disease type 4E (CMT4E), and with Dejerine-Sottas syndrome (DSS).;

NCIt note : Genetic variation in the promoter of the EGR2 gene in the context of Ewing Sarcoma may be associated with aberrant EWSR/FLI1 fusion protein-mediated gene expression. (Nature Genetics. 2015; 47: 1073-1078. doi:10.1038/ng.3363);

NCI Metathesaurus CUI : CL514366;

GenBank Accession Number : BC035625;

Details

Origin ID

C131313;

UMLS CUI

C4321445;

Automatic exact mappings (from CISMeF team)
- Charcot-Marie-Tooth disease type 1D [ORDO Disease]
- Charcot-Marie-Tooth disease type 1D [DO Concept]
- Charcot-Marie-Tooth disease type 4E [ORDO Disease]
- Charcot-Marie-Tooth disease type 4E [DO Concept]
- Charcot-Marie-Tooth disease, type 1D [MeSH Supplementary Concept]
- Charcot-marie-tooth disease, demyelinating, type 1d [OMIM Phenotype]
- Early growth response 2 [OMIM gene]
- Neuropathy, congenital hypomyelinating, 1, autosomal recessive [OMIM Phenotype]
- early growth response 2 [ORDO Gene]
OMIM relation
- Early growth response 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 10q21.1 [NCIt concept]
gene_is_element_in_pathway
- T-Cell Antiapoptosis Pathway [NCIt concept]
gene_plays_role_in_process
- DNA Binding [NCIt concept]
- Post-Translational Modification [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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