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 |
|---|---|---|---|
| RS1569291627 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS1569291654 | Health Risk | Pathogenic | — |
| RS1569300277 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS1569300687 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS1569302816 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS1602257730 | Health Risk | Pathogenic | — |
| RS1602264294 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS1602268620 | Health Risk | Pathogenic | — |
| RS1602277592 | Health Risk | Pathogenic | — |
| RS1602283534 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS1602291658 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS1602291861 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS1602293475 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS1602293563 | Health Risk | Pathogenic | — |
| RS1602293823 | Health Risk | Pathogenic | — |
| RS1602383045 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS202076203 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2074091750 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2074181394 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2074254630 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2074317360 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2074369642 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2074372905 | Health Risk | Pathogenic | — |
| RS2074373583 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2074374579 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2074379209 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2074381038 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2074383129 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2074383291 | Health Risk | Pathogenic | — |
| RS2074385548 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |
| RS2074437028 | Health Risk | Pathogenic | Thyroid cancer, nonmedullary, 1 |
| RS2074443766 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2075426780 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2146547822 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2146548468 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2146999877 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2146999914 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2147000428 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2147000956 | Health Risk | Pathogenic | Undetermined early-onset epileptic encephalopathy, Undetermined early-onset epileptic encephalopathy |
| RS2147001369 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2147003883 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2147006430 | Health Risk | Pathogenic | — |
| RS2147009961 | Health Risk | Pathogenic | — |
| RS2147010401 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2147026571 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2147027403 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Paraplegia-intellectual disability-hyperkeratosis syndrome |
| RS2147032671 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2147059978 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2147089642 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2147089995 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |