IQSEC1 Chromosome 3
IQ motif and Sec7 domain ArfGEF 1
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What This Gene Does
Predicted to enable protein kinase binding activity. Predicted to be involved in several processes, including positive regulation of focal adhesion disassembly; positive regulation of keratinocyte migration; and regulation of postsynaptic neurotransmitter receptor internalization. Located in centrosome; cytosol; and nucleoplasm. Implicated in intellectual developmental disorder with short stature and behavioral abnormalities and lung adenocarcinoma. Biomarker of lung non-small cell carcinoma. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
IQSEC ARFGEF family
Locus Type
gene with protein product
Location
3p25.2
Ensembl
ENSG00000144711
Associated Conditions (1)
Intellectual developmental disorder with short stature and behavioral abnormalities
Key Variants
RS372228887
Conflicting classifications of pathogenicity
Health Risk
RS2125304158
Likely pathogenic
Health Risk
RS758170522
Likely pathogenic
Intellectual developmental disorder with short stature and behavioral abnormalities, Intellectual developmental disorder with short stature and behavioral abnormalities
Health Risk
RS765723607
Pathogenic
Intellectual developmental disorder with short stature and behavioral abnormalities, Intellectual developmental disorder with short stature and behavioral abnormalities
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS372228887 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2125304158 | Health Risk | Likely pathogenic | — |
| RS758170522 | Health Risk | Likely pathogenic | Intellectual developmental disorder with short stature and behavioral abnormalities, Intellectual developmental disorder with short stature and behavioral abnormalities |
| RS765723607 | Health Risk | Pathogenic | Intellectual developmental disorder with short stature and behavioral abnormalities, Intellectual developmental disorder with short stature and behavioral abnormalities |