IQSEC2 wt Allele

Preferred Label : IQSEC2 wt Allele;

NCIt synonyms : MRX78; Mental Retardation, X-Linked 1 (Non-Dysmorphic) Gene; IQ Motif and Sec7 Domain 2 Gene; IQ-ArfGEF; IQ Motif and Sec7 Domain ArfGEF 2 wt Allele; MRX18; BRAG1; Mental Retardation, X-Linked 18 Gene; MRX1; Mental Retardation, X-Linked 78 Gene; XLID1; Brefeldin A Resistant Arf-Guanine Nucleotide Exchange Factor 1c Gene; KIAA0522; Brefeldin A Resistant Arf-Guanine Nucleotide Exchange Factor 1 Gene; Brefeldin A Resistant Arf-Guanine Nucleotide Exchange Factor 1b Gene;

NCIt definition : Human IQSEC2 wild-type allele is located in the vicinity of Xp11.22 and is approximately 96 kb in length. This allele, which encodes IQ motif and SEC7 domain-containing protein 2, plays a role in the modulation of ARF-mediated GTPase activity. Mutation of the gene is associated with nonsyndromic X-linked cognitive disability.;

NCI Metathesaurus CUI : CL1799298;

GenBank Accession Number : AB011094;

Details

Origin ID

C190821;

UMLS CUI

C5780960;

OMIM relation
- Iq motif- and sec7 domain-containing protein 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- Xp11.22 [NCIt concept]
gene_is_element_in_pathway
- Endocytosis Pathway [NCIt concept]
gene_plays_role_in_process
- Cytoskeletal Modeling [NCIt concept]
- Neuronal Transmission [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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