SYN2 (synapsin II)

2014-11-01  

Identity

HGNC
SYN2
LOCATION
3p25.2
LOCUSID
6854
ALIAS
SYNII
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6854
MIM: 600755
HGNC: 11495
Ensembl: ENSG00000157152

Variants:

dbSNP: 6854
ClinVar: 6854
TCGA: ENSG00000157152
COSMIC: SYN2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000157152ENST00000425297A0A087WW91
ENSG00000157152ENST00000620175Q92777
ENSG00000157152ENST00000621198Q92777

Expression (GTEx)

0
50
100
150
200
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
Neuronal SystemREACTOMER-HSA-112316
Transmission across Chemical SynapsesREACTOMER-HSA-112315
Neurotransmitter Release CycleREACTOMER-HSA-112310
Serotonin Neurotransmitter Release CycleREACTOMER-HSA-181429
Dopamine Neurotransmitter Release CycleREACTOMER-HSA-212676

References

Pubmed IDYearTitleCitations
297637512018Integration of summary data from GWAS and eQTL studies identified novel causal BMD genes with functional predictions.19
297637512018Integration of summary data from GWAS and eQTL studies identified novel causal BMD genes with functional predictions.19
275157002016DNA hypomethylation of Synapsin II CpG islands associates with increased gene expression in bipolar disorder and major depression.11
275157002016DNA hypomethylation of Synapsin II CpG islands associates with increased gene expression in bipolar disorder and major depression.11
239561742014SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth.37
250886142014Association of GABRA6 1519 T>C (rs3219151) and Synapsin II (rs37733634) gene polymorphisms with the development of idiopathic generalized epilepsy.10
239561742014SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth.37
250886142014Association of GABRA6 1519 T>C (rs3219151) and Synapsin II (rs37733634) gene polymorphisms with the development of idiopathic generalized epilepsy.10
223842802012Synapsin II is involved in the molecular pathway of lithium treatment in bipolar disorder.15
223842802012Synapsin II is involved in the molecular pathway of lithium treatment in bipolar disorder.15
214655682011Lack of association between synapsin II (SYN2) gene polymorphism and susceptibility epilepsy: a case-control study and meta-analysis.2
214655682011Lack of association between synapsin II (SYN2) gene polymorphism and susceptibility epilepsy: a case-control study and meta-analysis.2
200340132010Association of intronic polymorphism rs3773364 A>G in synapsin-2 gene with idiopathic epilepsy.21
200340132010Association of intronic polymorphism rs3773364 A>G in synapsin-2 gene with idiopathic epilepsy.21
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78

Citation

Dessen P

SYN2 (synapsin II)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74407/syn2-(synapsin-ii)