RAPGEF2 wt Allele

Preferred Label : RAPGEF2 wt Allele;

NCIt synonyms : RA(Ras/Rap1A-Associating)-GEF Gene; RA-GEF-1; CNrasGEF; PDZGEF1; DKFZP586O1422; PDZ Domain Containing Guanine Nucleotide Exchange Factor (GEF) 1 Gene; Rap Guanine Nucleotide Exchange Factor 2 wt Allele; RA-GEF; PDZ-GEF1; Rap GEP; RAGEF; NRAPGEP; KIAA0313; Rap Guanine Nucleotide Exchange Factor (GEF) 2 Gene; nRap GEP; Rap-GEP;

NCIt definition : Human RAPGEF2 wild-type allele is located in the vicinity of 4q32.1 and is approximately 257 kb in length. This allele, which encodes Rap guanine nucleotide exchange factor 2 protein, plays a role in the activation of Rap and Ras family GTPases. A repeat expansion in the gene may be associated with familial adult myoclonic epilepsy 7.;

NCI Metathesaurus CUI : CL1773923;

GenBank Accession Number : AB002311;

Details

Origin ID

C185576;

UMLS CUI

C5575302;

Automatic exact mappings (from CISMeF team)
- Rap guanine nucleotide exchange factor 2 [HGNC gene]
- Rap guanine nucleotide exchange factor 2 [OMIM gene]
OMIM relation
- Rap guanine nucleotide exchange factor 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- MAPK Signaling Pathway [NCIt concept]
- Tight Junction Assembly Pathway [NCIt concept]
gene_plays_role_in_process
- Angiogenic Process [NCIt concept]
- Neural Development [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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