SRGAP3 wt Allele

Preferred Label : SRGAP3 wt Allele;

NCIt synonyms : SLIT-ROBO Rho GTPase Activating Protein 2 Gene; ARHGAP14; SRGAP2; SLIT-ROBO Rho GTPase Activating Protein 3 wt Allele; WRP; MEGAP; KIAA0411;

NCIt definition : Human SRGAP3 wild-type allele is located in the vicinity of 3p25.3 and is approximately 382 kb in length. This allele, which encodes SLIT-ROBO Rho GTPase-activating protein 3, is involved in the modulation of signaling by small GTPases. A chromosomal translocation t(X;3)(p11.2;p25) affecting the gene is associated with one patient with severe idiopathic mental retardation. Recombination of chromosome 3 affecting this gene and the RAF1 gene may be associated with astrocytoma.;

GenBank Accession Number : AB007871;

Details

Origin ID

C97798;

UMLS CUI

C3273631;

OMIM relation
- Slit-robo rho gtpase-activating protein 3 [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
- 3p25.3 [NCIt concept]
gene_is_element_in_pathway
- Axon Guidance Pathway [NCIt concept]
gene_plays_role_in_process
- Intracellular Signaling Process [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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