IQSEC3 Chromosome 12
IQ motif and Sec7 domain ArfGEF 3
Upload your DNA to see your personal genotypes for variants in IQSEC3.
What This Gene Does
Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in several processes, including activation of GTPase activity; postsynapse organization; and regulation of small GTPase mediated signal transduction. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
IQSEC ARFGEF family
Locus Type
gene with protein product
Location
12p13.33
Ensembl
ENSG00000120645
Associated Conditions (1)
IQSEC3-related disorder
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200670002 | Health Risk | Conflicting classifications of pathogenicity | IQSEC3-related disorder, IQSEC3-related disorder |