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 |
|---|---|---|---|
| RS782536136 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Inborn genetic diseases |
| RS782559635 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Intellectual disability, X-linked 1 |
| RS782569979 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Inborn genetic diseases |
| RS782609666 | Health Risk | Conflicting classifications of pathogenicity | IQSEC2-related disorder, Intellectual disability, X-linked 1 |
| RS782632137 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Inborn genetic diseases |
| RS782643791 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Inborn genetic diseases |
| RS782697291 | Health Risk | Conflicting classifications of pathogenicity | Abnormal brain morphology, Intellectual disability, X-linked 1 |
| RS782715847 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Intellectual disability |
| RS782720064 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Intellectual disability |
| RS782725826 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Intellectual disability |
| RS782727618 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Inborn genetic diseases |
| RS782748026 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Inborn genetic diseases |
| RS782748833 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Intellectual disability |
| RS782766118 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Intellectual disability |
| RS782770335 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Intellectual disability |
| RS782796942 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Inborn genetic diseases |
| RS797044752 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Inborn genetic diseases |
| RS797045629 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Intellectual disability |
| RS797045630 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Inborn genetic diseases |
| RS868984500 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Intellectual disability |
| RS868984872 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Intellectual disability |
| RS886044781 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Intellectual disability |
| RS886044891 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Inborn genetic diseases |
| RS957057964 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 1, Inborn genetic diseases |
| RS987032967 | Health Risk | Conflicting classifications of pathogenicity | See cases, Intellectual disability, X-linked 1 |
| RS1057518993 | Health Risk | Likely pathogenic | Severe intellectual deficiency, Autism, Severe intellectual deficiency |
| RS1064795324 | Health Risk | Likely pathogenic | — |
| RS1064795460 | Health Risk | Likely pathogenic | — |
| RS1064795512 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS1064795725 | Health Risk | Likely pathogenic | — |
| RS1064795806 | Health Risk | Likely pathogenic | — |
| RS1085307630 | Health Risk | Likely pathogenic | — |
| RS1274777810 | Health Risk | Likely pathogenic | — |
| RS1556858900 | Health Risk | Likely pathogenic | — |
| RS1556862426 | Health Risk | Likely pathogenic | — |
| RS1556870861 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS1569291699 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS1569305431 | Health Risk | Likely pathogenic | Autism spectrum disorder, Autism spectrum disorder |
| RS1569306667 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS1602256663 | Health Risk | Likely pathogenic | — |
| RS1602268590 | Health Risk | Likely pathogenic | — |
| RS1602277471 | Health Risk | Likely pathogenic | Thyroid cancer, nonmedullary, 1 |
| RS1602279457 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS1602282739 | Health Risk | Likely pathogenic | — |
| RS2074096700 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2074117985 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 1, See cases |
| RS2074335019 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2074335877 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2074344245 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2074458024 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 1, Intellectual disability |