IQSEC1 wt Allele

Preferred Label : IQSEC1 wt Allele;

NCIt synonyms : KIAA0763; ADP-Ribosylation Factor Guanine Nucleotide Exchange Protein, 100-kD Gene; BRAG2; ARFGEP100; IQ Motif and Sec7 Domain ArfGEF 1 wt Allele; GEP100; IQ Motif and Sec7 Domain 1 Gene; IDDSSBA; ARF-GEF2; Loner, Drosophila, Homolog of Gene; ARF-GEP100;

NCIt definition : Human IQSEC1 wild-type allele is located in the vicinity of 3p25.2 and is approximately 386 kb in length. This allele, which encodes IQ motif and SEC7 domain-containing protein 1, plays a role in ADP-ribosylation factor guanine nucleotide exchange factor activity.;

NCI Metathesaurus CUI : CL1405593;

GenBank Accession Number : BC010267;

Details

Origin ID

C171302;

UMLS CUI

C5401322;

Automatic exact mappings (from CISMeF team)
- ADP ribosylation factor guanine nucleotide exchange factor 2 [ORDO Gene]
- IQ motif and Sec7 domain ArfGEF 1 [ORDO Gene]
- Intellectual developmental disorder with short stature and behavioral abnormalities [OMIM Phenotype]
- Iq motif- and sec7 domain-containing protein 1 [OMIM gene]
- intellectual developmental disorder with short stature and behavioral abnormalities [DO Concept]
OMIM relation
- Iq motif- and sec7 domain-containing protein 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Arf6 Signaling Pathway [NCIt concept]
- Endocytosis Pathway [NCIt concept]
gene_plays_role_in_process
- Phospholipid Binding [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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