Gene: IQSEC2

Alternate names for this Gene: BRAG1|IQ-ArfGEF|MRX1|MRX18|MRX78

Gene Summary: 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.

Gene is located in Chromosome: X

Location in Chromosome : Xp11.22

Description of this Gene: IQ motif and Sec7 domain ArfGEF 2

Type of Gene: protein-coding

rs1569305431 in IQSEC2 gene and Autism Spectrum Disorders PMID 30763456 2019 Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations.

rs797045140 in IQSEC2 gene and Delayed speech and language development PMID 26733290 2016 A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability.

rs797045140 in IQSEC2 gene and Learning Disabilities PMID 26733290 2016 A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability.

rs1556861311 in IQSEC2 gene and Mental Retardation, X-Linked 1 PMID 21686261 2010 Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disability.

PMID 26793055 2015 Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family.

PMID 27665735 2016 The molecular and phenotypic spectrum of IQSEC2-related epilepsy.

PMID 27369185 2017 Synaptic functions of the IQSEC family of ADP-ribosylation factor guanine nucleotide exchange factors.

PMID 27009485 2016 Bidirectional regulation of synaptic transmission by BRAG1/IQSEC2 and its requirement in long-term depression.

PMID 20473311 2010 Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability.

PMID 27652284 2016 Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.

PMID 23674175 2014 Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.

PMID 26733290 2016 A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability.

PMID 28815955 2017 The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey.

rs797045140 in IQSEC2 gene and Mild Mental Retardation PMID 26733290 2016 A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability.

rs797045140 in IQSEC2 gene and Moderate intellectual disability PMID 26733290 2016 A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability.

rs797045140 in IQSEC2 gene and Severe intellectual disability PMID 26733290 2016 A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability.