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 phosphoryl... See more...

Aliases for SYNGAP1 Gene

Aliases for SYNGAP1 Gene

  • Synaptic Ras GTPase Activating Protein 1 2 3 5
  • Ras/Rap GTPase-Activating Protein SynGAP 3 4
  • Neuronal RasGAP 3 4
  • KIAA1938 2 4
  • SYNGAP 2 3
  • RASA5 2 3
  • Synaptic Ras GTPase Activating Protein 1 Homolog (Rat) 2
  • Synaptic Ras GTPase Activating Protein 1 Homolog 3
  • Synaptic Ras GTPase Activating Protein, 135kDa 3
  • Synaptic Ras GTPase-Activating Protein 1 4
  • Ras GTPase-Activating Protein SynGAP 3
  • Synaptic Ras-GAP 1 4
  • SYNGAP1 5
  • RASA1 3
  • MRD5 3

External Ids for SYNGAP1 Gene

Previous GeneCards Identifiers for SYNGAP1 Gene

  • GC06U990169
  • GC06P033384
  • GC06P033434
  • GC06P033495
  • GC06P033129
  • GC06P033387

Summaries for SYNGAP1 Gene

Entrez Gene Summary for SYNGAP1 Gene

  • 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. [provided by RefSeq, Nov 2016]

GeneCards Summary for SYNGAP1 Gene

SYNGAP1 (Synaptic Ras GTPase Activating Protein 1) is a Protein Coding gene. Diseases associated with SYNGAP1 include Autosomal Dominant Non-Syndromic Intellectual Disability 5 and Syngap1-Related Intellectual Disability. Among its related pathways are RET signaling and Ras signaling pathway. Gene Ontology (GO) annotations related to this gene include GTPase activator activity and SH3 domain binding. An important paralog of this gene is DAB2IP.

UniProtKB/Swiss-Prot Summary for SYNGAP1 Gene

  • Major constituent of the PSD essential for postsynaptic signaling. Inhibitory regulator of the Ras-cAMP pathway. Member of the NMDAR signaling complex in excitatory synapses, it may play a role in NMDAR-dependent control of AMPAR potentiation, AMPAR membrane trafficking and synaptic plasticity. Regulates AMPAR-mediated miniature excitatory postsynaptic currents. Exhibits dual GTPase-activating specificity for Ras and Rap. May be involved in certain forms of brain injury, leading to long-term learning and memory deficits (By similarity).

Gene Wiki entry for SYNGAP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SYNGAP1 Gene

Genomics for SYNGAP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SYNGAP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SYNGAP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SYNGAP1

Top Transcription factor binding sites by QIAGEN in the SYNGAP1 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • COUP
  • E4BP4
  • GATA-3
  • PPAR-alpha

Genomic Locations for SYNGAP1 Gene

Latest Assembly
chr6:33,419,661-33,453,689
(GRCh38/hg38)
Size:
34,029 bases
Orientation:
Plus strand

Previous Assembly
chr6:33,387,842-33,421,466
(GRCh37/hg19 by Entrez Gene)
Size:
33,625 bases
Orientation:
Plus strand

chr6:33,387,847-33,421,466
(GRCh37/hg19 by Ensembl)
Size:
33,620 bases
Orientation:
Plus strand

Alternative Locations (GRCh38/hg38)

  • chr6(ALT_REF_LOCI_7):4,868,790-4,902,412 (+)

Genomic View for SYNGAP1 Gene

Genes around SYNGAP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SYNGAP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SYNGAP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SYNGAP1 Gene

Proteins for SYNGAP1 Gene

  • Protein details for SYNGAP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96PV0-SYGP1_HUMAN
    Recommended name:
    Ras/Rap GTPase-activating protein SynGAP
    Protein Accession:
    Q96PV0
    Secondary Accessions:
    • A2AB17
    • A2BEL6
    • A2BEL7
    • A8MQC4
    • Q8TCS2
    • Q9UGE2

    Protein attributes for SYNGAP1 Gene

    Size:
    1343 amino acids
    Molecular mass:
    148284 Da
    Quaternary structure:
    • Interacts KLHL17, CAMK2A and CAMK2B (By similarity). Interacts with MPDZ.
    SequenceCaution:
    • Sequence=BAB67831.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for SYNGAP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SYNGAP1 Gene

Post-translational modifications for SYNGAP1 Gene

  • Phosphorylated by CaM-kinase II. Dephosphorylated upon NMDA receptor activation or SYNGAP1/MPDZ complex disruption. Phosphorylation by PLK2 promotes its activity (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SYNGAP1 Gene

Domains & Families for SYNGAP1 Gene

Gene Families for SYNGAP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for SYNGAP1 Gene

InterPro:
Blocks:
  • C2 domain
  • Pleckstrin-like
  • Ras GTPase-activating protein

Suggested Antigen Peptide Sequences for SYNGAP1 Gene

GenScript: Design optimal peptide antigens:
  • Synaptic Ras GTPase activating protein 1 homolog (Rat) (B1AZX6_HUMAN)
  • Synaptic Ras GTPase-activating protein 1 (SYGP1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96PV0

UniProtKB/Swiss-Prot:

SYGP1_HUMAN :
  • The C2 domain is required for RapGAP activity.
Domain:
  • The C2 domain is required for RapGAP activity.
genes like me logo Genes that share domains with SYNGAP1: view

Function for SYNGAP1 Gene

Molecular function for SYNGAP1 Gene

UniProtKB/Swiss-Prot Function:
Major constituent of the PSD essential for postsynaptic signaling. Inhibitory regulator of the Ras-cAMP pathway. Member of the NMDAR signaling complex in excitatory synapses, it may play a role in NMDAR-dependent control of AMPAR potentiation, AMPAR membrane trafficking and synaptic plasticity. Regulates AMPAR-mediated miniature excitatory postsynaptic currents. Exhibits dual GTPase-activating specificity for Ras and Rap. May be involved in certain forms of brain injury, leading to long-term learning and memory deficits (By similarity).
GENATLAS Biochemistry:
synaptic Ras-GTPase activating protein 1,homolog of rat,in the flanking region of KNSL2

Phenotypes From GWAS Catalog for SYNGAP1 Gene

Gene Ontology (GO) - Molecular Function for SYNGAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IEA --
GO:0005515 protein binding IPI 32296183
GO:0017124 SH3 domain binding IEA --
genes like me logo Genes that share ontologies with SYNGAP1: view
genes like me logo Genes that share phenotypes with SYNGAP1: view

Human Phenotype Ontology for SYNGAP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SYNGAP1 Gene

MGI Knock Outs for SYNGAP1:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SYNGAP1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SYNGAP1 Gene

Localization for SYNGAP1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SYNGAP1 gene
Compartment Confidence
cytosol 5
plasma membrane 3
nucleus 3
extracellular 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SYNGAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IEA --
GO:0014069 postsynaptic density IEA --
GO:0016020 membrane IEA --
GO:0043198 dendritic shaft IEA --
genes like me logo Genes that share ontologies with SYNGAP1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for SYNGAP1 Gene

Pathways & Interactions for SYNGAP1 Gene

PathCards logo

SuperPathways for SYNGAP1 Gene

SuperPathway Contained pathways
1 RET signaling
2 Developmental Biology
3 Cytokine Signaling in Immune system
4 HIV Life Cycle
.45
5 Innate Immune System
genes like me logo Genes that share pathways with SYNGAP1: view

Pathways by source for SYNGAP1 Gene

1 Sino Biological pathway for SYNGAP1 Gene
1 KEGG pathway for SYNGAP1 Gene
1 GeneGo (Thomson Reuters) pathway for SYNGAP1 Gene
  • Development G-Proteins mediated regulation MARK-ERK signaling
1 Qiagen pathway for SYNGAP1 Gene
  • Molecular Mechanisms of Cancer
1 Cell Signaling Technology pathway for SYNGAP1 Gene

SIGNOR curated interactions for SYNGAP1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for SYNGAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0007165 signal transduction IEA --
GO:0007265 Ras protein signal transduction IEA --
GO:0007389 pattern specification process IEA --
GO:0008542 visual learning IEA --
genes like me logo Genes that share ontologies with SYNGAP1: view

Drugs & Compounds for SYNGAP1 Gene

(2) Drugs for SYNGAP1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cyclic amp Experimental Pharma 0
genes like me logo Genes that share compounds with SYNGAP1: view

Transcripts for SYNGAP1 Gene

mRNA/cDNA for SYNGAP1 Gene

2 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
30 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SYNGAP1

Alternative Splicing Database (ASD) splice patterns (SP) for SYNGAP1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b · 11c ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^
SP1:
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

ExUns: 19a · 19b · 19c ^ 20a · 20b · 20c ^ 21a · 21b ^ 22
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9: - - -
SP10: -
SP11:
SP12:
SP13: -

Relevant External Links for SYNGAP1 Gene

GeneLoc Exon Structure for
SYNGAP1

Expression for SYNGAP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SYNGAP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SYNGAP1 Gene

This gene is overexpressed in Frontal cortex (30.5), Brain (19.0), and Cervix (12.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SYNGAP1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SYNGAP1

SOURCE GeneReport for Unigene cluster for SYNGAP1 Gene:

Hs.586264

Evidence on tissue expression from TISSUES for SYNGAP1 Gene

  • Nervous system(4.6)
  • Blood(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SYNGAP1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • pharynx
  • skull
  • tooth
Thorax:
  • chest wall
  • heart
Abdomen:
  • abdominal wall
  • intestine
  • large intestine
Pelvis:
  • rectum
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with SYNGAP1: view

Primer products for research

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for SYNGAP1 Gene

Orthologs for SYNGAP1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SYNGAP1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SYNGAP1 29 30
  • 99.73 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SYNGAP1 30
  • 93 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia SYNGAP1 29 30
  • 92.26 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Syngap1 29 16 30
  • 91.84 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SYNGAP1 29 30
  • 91.51 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Syngap1 29
  • 91.47 (n)
Lizard
(Anolis carolinensis)
Reptilia SYNGAP1 30
  • 77 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia syngap1 29
  • 74.34 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC100151149 29
  • 66.56 (n)
SYNGAP1 (2 of 2) 30
  • 65 (a)
OneToMany
SYNGAP1 (1 of 2) 30
  • 63 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG42684 30
  • 19 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea gap-2 30
  • 24 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BUD2 30
  • 15 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.6146 30
  • 33 (a)
OneToMany
Species where no ortholog for SYNGAP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for SYNGAP1 Gene

ENSEMBL:
Gene Tree for SYNGAP1 (if available)
TreeFam:
Gene Tree for SYNGAP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SYNGAP1: view image
Alliance of Genome Resources:
Additional Orthologs for SYNGAP1

Paralogs for SYNGAP1 Gene

(4) SIMAP similar genes for SYNGAP1 Gene using alignment to 2 proteins:

  • SYGP1_HUMAN
  • B7ZCA0_HUMAN
genes like me logo Genes that share paralogs with SYNGAP1: view

Variants for SYNGAP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SYNGAP1 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
1000410 Uncertain Significance: Mental retardation, autosomal dominant 5 33,443,487(+) T/C
NM_006772.3(SYNGAP1):c.2935T>C (p.Phe979Leu)
MISSENSE
1001261 Uncertain Significance: Mental retardation, autosomal dominant 5 33,443,440(+) A/G
NM_006772.3(SYNGAP1):c.2888A>G (p.His963Arg)
MISSENSE
1002573 Uncertain Significance: Mental retardation, autosomal dominant 5 33,443,113(+) G/A
NM_006772.3(SYNGAP1):c.2561G>A (p.Arg854His)
MISSENSE
1003653 Uncertain Significance: Mental retardation, autosomal dominant 5 33,443,247(+) A/G
NM_006772.3(SYNGAP1):c.2695A>G (p.Ile899Val)
MISSENSE
1003706 Uncertain Significance: Mental retardation, autosomal dominant 5 33,440,970(+) G/A
NM_006772.3(SYNGAP1):c.1913+5G>A
INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SYNGAP1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SYNGAP1 Gene

Variant ID Type Subtype PubMed ID
esv3608630 CNV gain 21293372
nsv1019212 CNV gain 25217958
nsv1073969 CNV deletion 25765185
nsv1112900 CNV deletion 24896259
nsv1119076 CNV deletion 24896259
nsv437503 CNV loss 16327808
nsv602832 CNV loss 21841781
nsv830635 CNV loss 17160897
nsv830637 CNV loss 17160897

Variation tolerance for SYNGAP1 Gene

Residual Variation Intolerance Score: 1.36% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.95; 79.82% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SYNGAP1 Gene

Human Gene Mutation Database (HGMD)
SYNGAP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SYNGAP1
Leiden Open Variation Database (LOVD)
SYNGAP1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SYNGAP1 Gene

Disorders for SYNGAP1 Gene

MalaCards: The human disease database

(37) MalaCards diseases for SYNGAP1 Gene - From: CVR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
autosomal dominant non-syndromic intellectual disability 5
  • mrd5
syngap1-related intellectual disability
  • syngap1-related developmental epileptic encephalopathy
infantile epilepsy syndrome
  • infantile epilepsy
autosomal dominant non-syndromic intellectual disability
  • autosomal dominant mental retardation
non-specific syndromic intellectual disability
  • complex neurodevelopmental disorder
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SYGP1_HUMAN
  • Mental retardation, autosomal dominant 5 (MRD5) [MIM:612621]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD5 patients show global developmental delay with delayed motor development, hypotonia, moderate-to-severe mental retardation, and severe language impairment. Epilepsy and autism can be present in some patients. {ECO:0000269 PubMed:19196676, ECO:0000269 PubMed:21076407, ECO:0000269 PubMed:21237447, ECO:0000269 PubMed:23161826, ECO:0000269 PubMed:23708187}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for SYNGAP1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SYNGAP1: view

No data available for Genatlas for SYNGAP1 Gene

Publications for SYNGAP1 Gene

  1. Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency. (PMID: 23161826) Berryer MH … Di Cristo G (Human mutation 2013) 3 4 72
  2. Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. (PMID: 23708187) Carvill GL … Mefford HC (Nature genetics 2013) 3 4 72
  3. Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation. (PMID: 19196676) Hamdan FF … Synapse to Disease Group (The New England journal of medicine 2009) 3 4 40
  4. SynGAP: a synaptic RasGAP that associates with the PSD-95/SAP90 protein family. (PMID: 9581761) Kim JH … Huganir RL (Neuron 1998) 2 3 22
  5. SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy. (PMID: 30541864) Vlaskamp DRM … Scheffer IE (Neurology 2019) 3 72

Products for SYNGAP1 Gene