IQSEC2 Chromosome X
IQ motif and Sec7 domain ArfGEF 2
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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 |
|---|---|---|---|
| RS2147096232 | Health Risk | Pathogenic | See cases, See cases |
| RS2147096776 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2147096963 | Health Risk | Pathogenic | See cases, See cases |
| RS2147102426 | Health Risk | Pathogenic | Neurodevelopmental delay, Neurodevelopmental delay |
| RS2147103761 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2147104281 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2147121012 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2519670968 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2519673290 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2519674967 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2519689195 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2519704378 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2519714787 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2519745279 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2519771847 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2519786494 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2519787344 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2519798302 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2519799405 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2519808934 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2519809836 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2519809935 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2519840766 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2519840985 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2519851401 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2519851872 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2520563603 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2520567227 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2520578180 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2520588778 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS2520596891 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS267607187 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS267607189 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS368945951 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS374220843 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS587777261 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Inborn genetic diseases |
| RS782132072 | Health Risk | Pathogenic | See cases, See cases |
| RS782460038 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS782517076 | Health Risk | Pathogenic | — |
| RS782660318 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Inborn genetic diseases |
| RS797044889 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS797044932 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS797045140 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS875989799 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS878853144 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |
| RS886041433 | Health Risk | Pathogenic | Intellectual disability, X-linked 1, Inborn genetic diseases |
| RS886041481 | Health Risk | Pathogenic | Severe intellectual deficiency, Intellectual disability, X-linked 1 |
| RS1057521657 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Intellectual disability, X-linked 1 |
| RS1131691887 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, X-linked 1, Intellectual disability |
| RS1602284689 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, X-linked 1, Inborn genetic diseases |