Property Summary

NCBI Gene PubMed Count 36
Grant Count 71
R01 Count 49
Funding $10,843,287.11
PubMed Score 72.33
PubTator Score 40.00

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
osteosarcoma 1.699 0.000
glioblastoma -1.500 0.000
medulloblastoma -1.600 0.000
atypical teratoid / rhabdoid tumor -1.200 0.000
medulloblastoma, large-cell -2.100 0.000
pediatric high grade glioma -1.300 0.000
ovarian cancer 1.300 0.000

Synonym

Accession Q96PV0 A2AB17 A2BEL6 A2BEL7 A8MQC4 Q8TCS2 Q9UGE2
Symbols MRD5
RASA1
RASA5
SYNGAP

Gene

 GO Function (1)

 GWAS Trait (1)

Gene RIF (16)

PMID Text
26558778 Syngap transgenic mice exhibited alterations in long-term depression and dendritic spine morphology.
26110312 This is the first description of a special electroencephalogram phenomenon (normalization with eye opening) in association with SYNGAP1 mutations.
26079862 De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.
25533468 Phosphorylation of synaptic GTPase-activating protein (synGAP) by Ca2+/calmodulin-dependent protein kinase II (CaMKII) and cyclin-dependent kinase 5 (CDK5) alters the ratio of its GAP activity toward Ras and Rap GTPases.
24945774 Reduced cognition in mutant Syngap1 transgenic mice is caused by isolated damage to developing forebrain neurons.
23708187 De novo CHD2 and SYNGAP1 mutations are new causes of epileptic encephalopathies, accounting for 1.2% and 1% of cases, respectively.
23161826 De novo missense mutations, p.R579X, and possibly all the other truncating mutations in SYNGAP1 result in a loss of its function, causing intellectual disability, autism, and a specific form of epilepsy.
21480541 SYNGAP1 is a brain-specific protein that interacts with key components of the proteins involved in experience-dependent changes in glutamate synapses involved in learning.
21237447 We provide evidence that truncating mutations in SYNGAP1 are common in nonsyndromic intellectual disability and can be also associated with autism.
20531469 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
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AA Sequence

MSRSRASIHRGSIPAMSYAPFRDVRGPSMHRTQYVHSPYDRPGWNPRFCIISGNQLLMLDEDEIHPLLIR      1 - 70
DRRSESSRNKLLRRTVSVPVEGRPHGEHEYHLGRSRRKSVPGGKQYSMEGAPAAPFRPSQGFLSRRLKSS     71 - 140
IKRTKSQPKLDRTSSFRQILPRFRSADHDRARLMQSFKESHSHESLLSPSSAAEALELNLDEDSIIKPVH    141 - 210
SSILGQEFCFEVTTSSGTKCFACRSAAERDKWIENLQRAVKPNKDNSRRVDNVLKLWIIEARELPPKKRY    211 - 280
YCELCLDDMLYARTTSKPRSASGDTVFWGEHFEFNNLPAVRALRLHLYRDSDKKRKKDKAGYVGLVTVPV    281 - 350
ATLAGRHFTEQWYPVTLPTGSGGSGGMGSGGGGGSGGGSGGKGKGGCPAVRLKARYQTMSILPMELYKEF    351 - 420
AEYVTNHYRMLCAVLEPALNVKGKEEVASALVHILQSTGKAKDFLSDMAMSEVDRFMEREHLIFRENTLA    421 - 490
TKAIEEYMRLIGQKYLKDAIGEFIRALYESEENCEVDPIKCTASSLAEHQANLRMCCELALCKVVNSHCV    491 - 560
FPRELKEVFASWRLRCAERGREDIADRLISASLFLRFLCPAIMSPSLFGLMQEYPDEQTSRTLTLIAKVI    561 - 630
QNLANFSKFTSKEDFLGFMNEFLELEWGSMQQFLYEISNLDTLTNSSSFEGYIDLGRELSTLHALLWEVL    631 - 700
PQLSKEALLKLGPLPRLLNDISTALRNPNIQRQPSRQSERPRPQPVVLRGPSAEMQGYMMRDLNSSIDLQ    701 - 770
SFMARGLNSSMDMARLPSPTKEKPPPPPPGGGKDLFYVSRPPLARSSPAYCTSSSDITEPEQKMLSVNKS    771 - 840
VSMLDLQGDGPGGRLNSSSVSNLAAVGDLLHSSQASLTAALGLRPAPAGRLSQGSGSSITAAGMRLSQMG    841 - 910
VTTDGVPAQQLRIPLSFQNPLFHMAADGPGPPGGHGGGGGHGPPSSHHHHHHHHHHRGGEPPGDTFAPFH    911 - 980
GYSKSEDLSSGVPKPPAASILHSHSYSDEFGPSGTDFTRRQLSLQDNLQHMLSPPQITIGPQRPAPSGPG    981 - 1050
GGSGGGSGGGGGGQPPPLQRGKSQQLTVSAAQKPRPSSGNLLQSPEPSYGPARPRQQSLSKEGSIGGSGG   1051 - 1120
SGGGGGGGLKPSITKQHSQTPSTLNPTMPASERTVAWVSNMPHLSADIESAHIEREEYKLKEYSKSMDES   1121 - 1190
RLDRVKEYEEEIHSLKERLHMSNRKLEEYERRLLSQEEQTSKILMQYQARLEQSEKRLRQQQAEKDSQIK   1191 - 1260
SIIGRLMLVEEELRRDHPAMAEPLPEPKKRLLDAQERQLPPLGPTNPRVTLAPPWNGLAPPAPPPPPRLQ   1261 - 1330
ITENGEFRNTADH                                                            1331 - 1343
//

Text Mined References (38)

PMID Year Title
26989088 2016 Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.
26558778 2015 Convergence of Hippocampal Pathophysiology in Syngap+/- and Fmr1-/y Mice.
26110312 2015 SYNGAP1 Mutation in Focal and Generalized Epilepsy: A Literature Overview and A Case Report with Special Aspects of the EEG.
26079862 2015 De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.
25533468 2015 Phosphorylation of synaptic GTPase-activating protein (synGAP) by Ca2+/calmodulin-dependent protein kinase II (CaMKII) and cyclin-dependent kinase 5 (CDK5) alters the ratio of its GAP activity toward Ras and Rap GTPases.
24945774 2014 Reduced cognition in Syngap1 mutants is caused by isolated damage within developing forebrain excitatory neurons.
23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
23161826 2013 Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.
21480541 2011 De novo autosomal dominant mutation in SYNGAP1.
21237447 2011 De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism.
More...