SYNGAP1 (synaptic Ras GTPase activating protein 1)

2014-08-01  

Identity

HGNC
SYNGAP1
LOCATION
6p21.32
LOCUSID
8831
ALIAS
MRD5,RASA1,RASA5,SYNGAP
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
380966602024Severe behavior problems in SYNGAP1-related disorder: A summary of 11 consecutive patients in a tertiary care specialty clinic.1
381715552024[Correlation of early neurodevelopmental features of children with SYNGAP1 variants and their genotypes].0
385631102024SYNGAP1-related developmental and epileptic encephalopathy: Genotypic and phenotypic characteristics and longitudinal insights.0
386579652024The Behavioral Profile of SYNGAP1-Related Intellectual Disability.0
386987242024Visual social attention in SYNGAP1-related intellectual disability.0
380966602024Severe behavior problems in SYNGAP1-related disorder: A summary of 11 consecutive patients in a tertiary care specialty clinic.1
381715552024[Correlation of early neurodevelopmental features of children with SYNGAP1 variants and their genotypes].0
385631102024SYNGAP1-related developmental and epileptic encephalopathy: Genotypic and phenotypic characteristics and longitudinal insights.0
386579652024The Behavioral Profile of SYNGAP1-Related Intellectual Disability.0
386987242024Visual social attention in SYNGAP1-related intellectual disability.0
369179802023Upregulation of SYNGAP1 expression in mice and human neurons by redirecting alternative splicing.15
379460502023Non-synaptic function of the autism spectrum disorder-associated gene SYNGAP1 in cortical neurogenesis.2
379965272023Discovery of a non-canonical function of SYNGAP1 at early stages of human cortical neurogenesis.0
369179802023Upregulation of SYNGAP1 expression in mice and human neurons by redirecting alternative splicing.15
379460502023Non-synaptic function of the autism spectrum disorder-associated gene SYNGAP1 in cortical neurogenesis.2

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-(synaptic-ras-gtpase-activating-protein-1)