SNCA (synuclein alpha)

2007-02-01  

Identity

HGNC
LOCATION
4q22.1
LOCUSID
ALIAS
NACP,PARK1,PARK4,PD1
FUSION GENES

Other Information

Locus ID:

NCBI: 6622
MIM: 163890
HGNC: 11138
Ensembl: ENSG00000145335

Variants:

dbSNP: 6622
ClinVar: 6622
TCGA: ENSG00000145335
COSMIC: SNCA

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000145335ENST00000336904P37840
ENSG00000145335ENST00000345009P37840
ENSG00000145335ENST00000345009H6UYS5
ENSG00000145335ENST00000394986P37840
ENSG00000145335ENST00000394989P37840
ENSG00000145335ENST00000394989H6UYS0
ENSG00000145335ENST00000394991P37840
ENSG00000145335ENST00000420646P37840
ENSG00000145335ENST00000420646H6UYS5
ENSG00000145335ENST00000502987E7EPV7
ENSG00000145335ENST00000505199P37840
ENSG00000145335ENST00000505199H6UYS0
ENSG00000145335ENST00000506244P37840
ENSG00000145335ENST00000506691D6RA31
ENSG00000145335ENST00000508895P37840
ENSG00000145335ENST00000611107H6UYS7
ENSG00000145335ENST00000618500P37840
ENSG00000145335ENST00000618500H6UYS0

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Alzheimer's diseaseKEGGko05010
Alzheimer's diseaseKEGGhsa05010
Parkinson's diseaseKEGGhsa05012
Metabolism of proteinsREACTOMER-HSA-392499
Amyloid fiber formationREACTOMER-HSA-977225

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
145931712003alpha-Synuclein locus triplication causes Parkinson's disease.1337
153338402004Impaired degradation of mutant alpha-synuclein by chaperone-mediated autophagy.614
196516122009Inclusion formation and neuronal cell death through neuron-to-neuron transmission of alpha-synuclein.567
118130012002alpha-Synuclein is phosphorylated in synucleinopathy lesions.530
207982822010Alpha-synuclein promotes SNARE-complex assembly in vivo and in vitro.529
167940392006Alpha-synuclein blocks ER-Golgi traffic and Rab1 rescues neuron loss in Parkinson's models.528
199155762009Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease.471
217003252011Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathies.393
218418002011α-Synuclein occurs physiologically as a helically folded tetramer that resists aggregation.377
168470632006Phosphorylation of Ser-129 is the dominant pathological modification of alpha-synuclein in familial and sporadic Lewy body disease.364

Citation

Dessen P

SNCA (synuclein alpha)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46121/snca-(synuclein-alpha)