SYNGAP1 (synaptic Ras GTPase activating protein 1)

2014-08-01  

Identity

HGNC
LOCATION
6p21.32
LOCUSID
ALIAS
MRD5,RASA1,RASA5,SYNGAP
FUSION GENES

Other Information

Locus ID:

NCBI: 8831
MIM: 603384
HGNC: 11497
Ensembl: ENSG00000197283

Variants:

dbSNP: 8831
ClinVar: 8831
TCGA: ENSG00000197283
COSMIC: SYNGAP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000197283ENST00000293748A0A0A0MQZ2
ENSG00000197283ENST00000418600Q96PV0
ENSG00000197283ENST00000428982Q96PV0
ENSG00000197283ENST00000449372B7ZCA0
ENSG00000197283ENST00000628646Q96PV0
ENSG00000197283ENST00000629380Q96PV0
ENSG00000197283ENST00000629380A0A1U9X8L0
ENSG00000197283ENST00000636905A0A1B0GU28
ENSG00000197283ENST00000638142A0A1B0GW70
ENSG00000197283ENST00000644458A0A2R8Y6T2
ENSG00000197283ENST00000645250A0A2R8YDS2
ENSG00000197283ENST00000646630Q96PV0
ENSG00000197283ENST00000646630A0A1U9X8L0

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
Ras signaling pathwayKEGGhsa04014
DiseaseREACTOMER-HSA-1643685
Diseases of signal transductionREACTOMER-HSA-5663202
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
DAP12 interactionsREACTOMER-HSA-2172127
DAP12 signalingREACTOMER-HSA-2424491
RAF/MAP kinase cascadeREACTOMER-HSA-5673001
Regulation of RAS by GAPsREACTOMER-HSA-5658442
Fc epsilon receptor (FCERI) signalingREACTOMER-HSA-2454202
FCERI mediated MAPK activationREACTOMER-HSA-2871796
Cytokine Signaling in Immune systemREACTOMER-HSA-1280215
Signaling by InterleukinsREACTOMER-HSA-449147
Interleukin-2 signalingREACTOMER-HSA-451927
Interleukin receptor SHC signalingREACTOMER-HSA-912526
Interleukin-3, 5 and GM-CSF signalingREACTOMER-HSA-512988
Signal TransductionREACTOMER-HSA-162582
Signaling by EGFRREACTOMER-HSA-177929
GRB2 events in EGFR signalingREACTOMER-HSA-179812
SHC1 events in EGFR signalingREACTOMER-HSA-180336
Signaling by Insulin receptorREACTOMER-HSA-74752
Insulin receptor signalling cascadeREACTOMER-HSA-74751
IRS-mediated signallingREACTOMER-HSA-112399
SOS-mediated signallingREACTOMER-HSA-112412
Signalling by NGFREACTOMER-HSA-166520
NGF signalling via TRKA from the plasma membraneREACTOMER-HSA-187037
Signalling to ERKsREACTOMER-HSA-187687
Signalling to RASREACTOMER-HSA-167044
Signalling to p38 via RIT and RINREACTOMER-HSA-187706
Prolonged ERK activation eventsREACTOMER-HSA-169893
Frs2-mediated activationREACTOMER-HSA-170968
ARMS-mediated activationREACTOMER-HSA-170984
Signaling by PDGFREACTOMER-HSA-186797
Downstream signal transductionREACTOMER-HSA-186763
Signaling by VEGFREACTOMER-HSA-194138
VEGFA-VEGFR2 PathwayREACTOMER-HSA-4420097
VEGFR2 mediated cell proliferationREACTOMER-HSA-5218921
Signaling by SCF-KITREACTOMER-HSA-1433557
MAPK family signaling cascadesREACTOMER-HSA-5683057
MAPK1/MAPK3 signalingREACTOMER-HSA-5684996
Signaling by GPCRREACTOMER-HSA-372790
Gastrin-CREB signalling pathway via PKC and MAPKREACTOMER-HSA-881907
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)REACTOMER-HSA-2404192
IGF1R signaling cascadeREACTOMER-HSA-2428924
IRS-related events triggered by IGF1RREACTOMER-HSA-2428928
Signaling by LeptinREACTOMER-HSA-2586552
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
NCAM signaling for neurite out-growthREACTOMER-HSA-375165
Signaling by PTK6REACTOMER-HSA-8848021
PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinasesREACTOMER-HSA-8849471
RET signalingREACTOMER-HSA-8853659
Oncogenic MAPK signalingREACTOMER-HSA-6802957
Signaling by RAS mutantsREACTOMER-HSA-6802949

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
205314692010Functional impact of global rare copy number variation in autism spectrum disorders.778
237081872013Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.221
191966762009Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation.94
191966762009Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation.94
231618262013Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.63
212374472011De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism.60
198514452009High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.51
183238562008The C2 domain of SynGAP is essential for stimulation of the Rap GTPase reaction.41
194836572009Decreased expression of NMDA receptor-associated proteins in frontal cortex of elderly patients with schizophrenia.39
249457742014Reduced cognition in Syngap1 mutants is caused by isolated damage within developing forebrain excitatory neurons.29

Citation

Dessen P

SYNGAP1 (synaptic Ras GTPase activating protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54681/syngap1