Gene: SYNGAP1
Alternate names for this Gene: MRD5|RASA1|RASA5|SYNGAP
Gene Summary: This gene encodes a Ras GTPase activating protein that is a member of the N-methyl-D-aspartate receptor complex. The N-terminal domain of the protein contains a Ras-GAP domain, a pleckstrin homology domain, and a C2 domain that may be involved in binding of calcium and phospholipids. The C-terminal domain consists of a ten histidine repeat region, serine and tyrosine phosphorylation sites, and a T/SXV motif required for postsynaptic scaffold protein interaction. The encoded protein negatively regulates Ras, Rap and alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor trafficking to the postsynaptic membrane to regulate synaptic plasticity and neuronal homeostasis. Allelic variants of this gene are associated with intellectual disability and autism spectrum disorder. Alternative splicing results in multiple transcript variants.
Gene is located in Chromosome: 6
Location in Chromosome : 6p21.32
Description of this Gene: synaptic Ras GTPase activating protein 1
Type of Gene: protein-coding
Gene: MIR5004
Alternate names for this Gene: mir-5004
Gene Summary: microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop.
Gene is located in Chromosome: 6
Location in Chromosome : 6p21.32
Description of this Gene: microRNA 5004
Type of Gene: ncRNA
rs1554121353 in
SYNGAP1;MIR5004 gene and
Multiple congenital anomalies
PMID 26989088 2016 Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.
PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
PMID 19196676 2009 Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation.
PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.
PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
PMID 27827368 2016 Decrease of SYNGAP1 in GABAergic cells impairs inhibitory synapse connectivity, synaptic inhibition and cognitive function.
PMID 26079862 2015 De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.
PMID 28576131 2017 Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report.
PMID 22604720 2012 Evolution and functional impact of rare coding variation from deep sequencing of human exomes.
PMID 23934111 2013 De novo mutations in epileptic encephalopathies.
PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.
PMID 21376300 2011 Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.
PMID 23141534 2012 Pathogenic SYNGAP1 mutations impair cognitive development by disrupting maturation of dendritic spine synapses.
PMID 20531469 2010 Functional impact of global rare copy number variation in autism spectrum disorders.
PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.
PMID 21237447 2011 De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism.
PMID 23161826 2013 Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.
PMID 15312654 2004 SynGAP-MUPP1-CaMKII synaptic complexes regulate p38 MAP kinase activity and NMDA receptor-dependent synaptic AMPA receptor potentiation.
rs1554121353 in
SYNGAP1;MIR5004 gene and
Muscle hypotonia
PMID 28576131 2017 Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report.
PMID 15312654 2004 SynGAP-MUPP1-CaMKII synaptic complexes regulate p38 MAP kinase activity and NMDA receptor-dependent synaptic AMPA receptor potentiation.
PMID 26079862 2015 De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.
PMID 26989088 2016 Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.
PMID 22604720 2012 Evolution and functional impact of rare coding variation from deep sequencing of human exomes.
PMID 21237447 2011 De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism.
PMID 19196676 2009 Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation.
PMID 21376300 2011 Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.
PMID 23161826 2013 Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.
PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.
PMID 23141534 2012 Pathogenic SYNGAP1 mutations impair cognitive development by disrupting maturation of dendritic spine synapses.
PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.
PMID 20531469 2010 Functional impact of global rare copy number variation in autism spectrum disorders.
PMID 23934111 2013 De novo mutations in epileptic encephalopathies.
PMID 27827368 2016 Decrease of SYNGAP1 in GABAergic cells impairs inhibitory synapse connectivity, synaptic inhibition and cognitive function.
PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.