ARHGEF12 wt Allele

Preferred Label : ARHGEF12 wt Allele;

NCIt synonyms : Leukemia-Associated Rho Guanine Nucleotide Exchange Factor Gene; PRO2792; KIAA0382; Rho Guanine Nucleotide Exchange Factor (GEF) 12 wt Allele; DKFZp686O2372; LARG;

NCIt definition : Human ARHGEF12 wild-type allele is located in the vicinity of 11q23.3 and is approximately 153 kb in length. This allele, which encodes Rho guanine nucleotide exchange factor 12 protein, is involved in the modulation of signaling that is mediated by both Rho-family GTPases or G-protein coupled receptors. The gene is involved in a translocation t(11;11)(q23;23) with the MLL gene which is associated with acute leukemia.;

GenBank Accession Number : AF180681;

Details

Origin ID

C97437;

UMLS CUI

C3273413;

OMIM relation
- Rho guanine nucleotide exchange factor 12 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 11q23.3 [NCIt concept]
gene_is_element_in_pathway
- Actin Cytoskeleton Regulation Pathway [NCIt concept]
- Axon Guidance Pathway [NCIt concept]
- Vascular Smooth Muscle Contraction Pathway [NCIt concept]
gene_plays_role_in_process
- G Protein-Coupled Receptor Signaling [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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