IQSEC2 Chromosome X
IQ motif and Sec7 domain ArfGEF 2
Upload your DNA to see your personal genotypes for variants in IQSEC2.
What This Gene Does
This gene encodes a guanine nucleotide exchange factor for the ARF family of small GTP-binding proteins. The encoded protein is a component of the postsynaptic density at excitatory synapses, and may play a critical role in cytoskeletal and synaptic organization through the activation of selected ARF substrates including ARF1 and ARF6. Mutations in this gene have been implicated in nonsyndromic X-linked cognitive disability. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]
Gene Info
Gene Group
IQSEC ARFGEF family
Locus Type
gene with protein product
Location
Xp11.22
Ensembl
ENSG00000124313
Associated Conditions (20)
Intellectual disability
X-linked 1
Inborn genetic diseases
IQSEC2-related disorder
Tip-toe gait
Abnormal brain morphology
See cases
Severe intellectual deficiency
Autism
Autism spectrum disorder
Thyroid cancer
nonmedullary
1
Nonpapillary renal cell carcinoma
Seizure
Intellectual developmental disorder
X-linked 108
Undetermined early-onset epileptic encephalopathy
Paraplegia-intellectual disability-hyperkeratosis syndrome
Neurodevelopmental delay
Key Variants
RS1003745171
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 1, Inborn genetic diseases
Health Risk
RS1050525102
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 1, Inborn genetic diseases
Health Risk
RS1057518272
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 1, Intellectual disability
Health Risk
RS1057522236
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 1, Intellectual disability
Health Risk
RS1064795421
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 1, Intellectual disability
Health Risk
RS1085307736
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 1, Intellectual disability
Health Risk
RS1178634147
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 1, Intellectual disability
Health Risk
RS1204856744
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 1, Intellectual disability
Health Risk
RS1208700189
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 1, Intellectual disability
Health Risk
RS1300877733
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 1, Inborn genetic diseases
Health Risk
RS1302692296
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 1, Intellectual disability
Health Risk
RS1347714754
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 1, Inborn genetic diseases
Health Risk
All Variants (251)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1003745171 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Inborn genetic diseases |
| RS1050525102 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Inborn genetic diseases |
| RS1057518272 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Intellectual disability |
| RS1057522236 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Intellectual disability |
| RS1064795421 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Intellectual disability |
| RS1085307736 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Intellectual disability |
| RS1178634147 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Intellectual disability |
| RS1204856744 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Intellectual disability |
| RS1208700189 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Intellectual disability |
| RS1300877733 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Inborn genetic diseases |
| RS1302692296 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Intellectual disability |
| RS1347714754 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Inborn genetic diseases |
| RS1372592100 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Inborn genetic diseases |
| RS142545002 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Intellectual disability |
| RS1449945045 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Intellectual disability |
| RS1461166570 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Intellectual disability |
| RS1470379713 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Intellectual disability, X-linked 1 |
| RS147706810 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Inborn genetic diseases |
| RS1556858927 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Intellectual disability |
| RS1556859667 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Intellectual disability |
| RS1556860937 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Inborn genetic diseases |
| RS1556861372 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Intellectual disability |
| RS1556862958 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Intellectual disability |
| RS1556863213 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Intellectual disability |
| RS1602260263 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Intellectual disability |
| RS200182557 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Inborn genetic diseases |
| RS2074097651 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Intellectual disability |
| RS2074317922 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Intellectual disability |
| RS2146548006 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Intellectual disability |
| RS2147099953 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Intellectual disability |
| RS2519788045 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Inborn genetic diseases |
| RS267607186 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Intellectual disability |
| RS368559547 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Inborn genetic diseases |
| RS370573314 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, IQSEC2-related disorder |
| RS371450118 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Inborn genetic diseases |
| RS781805662 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Intellectual disability |
| RS781808414 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Inborn genetic diseases |
| RS781830206 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Intellectual disability |
| RS781876521 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Intellectual disability |
| RS781902812 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Intellectual disability |
| RS781915659 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Intellectual disability |
| RS781930433 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Inborn genetic diseases |
| RS781940286 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Tip-toe gait |
| RS782189881 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Inborn genetic diseases |
| RS782244422 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Inborn genetic diseases |
| RS782259574 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Intellectual disability |
| RS782355048 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Inborn genetic diseases |
| RS782420335 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Inborn genetic diseases |
| RS782439813 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Inborn genetic diseases |
| RS782469479 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Inborn genetic diseases |