IQSEC1

Chr 3

IQ motif and Sec7 domain ArfGEF 1

Also known as: ARF-GEP100, ARFGEP100, BRAG2, GEP100, IDDSSBA

NCBI Gene: 9922 ENSG00000144711 UniProt: Q6DN90

IQSEC1 encodes a guanine nucleotide exchange factor for ARF proteins that regulates vesicle formation and AMPA receptor internalization at synapses. Biallelic mutations cause autosomal recessive intellectual developmental disorder with short stature and behavioral abnormalities. This gene is highly constrained against loss-of-function variants in the general population.

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtIntellectual developmental disorder with short stature and behavioral abnormalities

Clinical highlights

Gene-disease validity (ClinGen)

complex neurodevelopmental disorder · ARLimitednot for standalone diagnostic reporting

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.22

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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