Entity Details

Primary name IQSEC2
Entity type gene
Source Source Link

Details

PrimaryID23096
RefseqGeneNG_021296
SymbolIQSEC2
NameIQ motif and Sec7 domain ArfGEF 2
ChromosomeX
LocationXp11.22
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-11-30
ModificationDate2021-06-20

Ontological Relatives

UniProt IDsIQEC2_HUMAN

GO terms

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GOName
GO:0005085 guanyl-nucleotide exchange factor activity
GO:0005737 cytoplasm
GO:0030036 actin cytoskeleton organization
GO:0032012 regulation of ARF protein signal transduction
GO:0050804 modulation of chemical synaptic transmission
GO:0098685 Schaffer collateral - CA1 synapse
GO:0098696 regulation of neurotransmitter receptor localization to postsynaptic specialization membrane

Diseases

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Disease IDSourceNameDescription
309530 OMIMMental retardation, X-linked 1 (MRX1)A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. The disease is caused by variants affecting the gene represented in this entry.