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 |
|---|---|---|---|
| RS2146544783 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2146999591 | Health Risk | Likely pathogenic | — |
| RS2147000837 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2147010150 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2147015547 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2147049209 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2147096217 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 1, Nonpapillary renal cell carcinoma |
| RS2147127449 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2519670710 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2519672613 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2519676038 | Health Risk | Likely pathogenic | Seizure, Seizure |
| RS2519688268 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2519705025 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2519771482 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2519780481 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2519796610 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2519806355 | Health Risk | Likely pathogenic | Intellectual developmental disorder, X-linked 108, Intellectual developmental disorder |
| RS2519809669 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2519835312 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 1, Thyroid cancer |
| RS2519840681 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2519841067 | Health Risk | Likely pathogenic | — |
| RS267607188 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS781846571 | Health Risk | Likely pathogenic | — |
| RS886041767 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS1057520858 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS1060499660 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS1064793152 | Health Risk | Pathogenic | — |
| RS1064793569 | Health Risk | Pathogenic | — |
| RS1064796614 | Health Risk | Pathogenic | — |
| RS1131691650 | Health Risk | Pathogenic | — |
| RS1252463400 | Health Risk | Pathogenic | — |
| RS1556858912 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS1556859257 | Health Risk | Pathogenic | — |
| RS1556859652 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS1556859744 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS1556860401 | Health Risk | Pathogenic | — |
| RS1556861311 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS1556861369 | Health Risk | Pathogenic | — |
| RS1556862167 | Health Risk | Pathogenic | — |
| RS1556863043 | Health Risk | Pathogenic | — |
| RS1556863090 | Health Risk | Pathogenic | — |
| RS1556863165 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS1556863340 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS1556863398 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS1556863435 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS1556863492 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS1556865060 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS1556865104 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS1556880284 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS1569290954 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |