Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6622
Gene name Gene Name - the full gene name approved by the HGNC.
Synuclein alpha
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SNCA
Synonyms (NCBI Gene) Gene synonyms aliases
NACP, PARK1, PARK4, PD1
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q22.1
Summary Summary of gene provided in NCBI Entrez Gene.
Alpha-synuclein is a member of the synuclein family, which also includes beta- and gamma-synuclein. Synucleins are abundantly expressed in the brain and alpha- and beta-synuclein inhibit phospholipase D2 selectively. SNCA may serve to integrate presynapti
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs104893875 C>T Pathogenic Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs104893877 C>T Pathogenic Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs144758871 C>T Conflicting-interpretations-of-pathogenicity Synonymous variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs201106962 A>C Pathogenic, uncertain-significance Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs431905511 C>T Pathogenic Coding sequence variant, missense variant, non coding transcript variant, genic upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT000032 hsa-miR-7-5p qRT-PCR, Luciferase reporter assay, Western blot 19628698
MIRT000032 hsa-miR-7-5p Luciferase reporter assay 19628698
MIRT000032 hsa-miR-7-5p Immunocytochemistry, Luciferase reporter assay, qRT-PCR, Western blot 20106983
MIRT004733 hsa-miR-153-3p Immunocytochemistry, Luciferase reporter assay, qRT-PCR, Western blot 20106983
MIRT054335 mmu-miR-153-3p Luciferase reporter assay, qRT-PCR, Western blot 23595248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II TAS 24252804
GO:0000149 Function SNARE binding IDA 20798282
GO:0000287 Function Magnesium ion binding IDA 11850416
GO:0000976 Function Transcription cis-regulatory region binding TAS 24252804
GO:0001774 Process Microglial cell activation IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
163890 11138 ENSG00000145335
Protein
UniProt ID P37840
Protein name Alpha-synuclein (Non-A beta component of AD amyloid) (Non-A4 component of amyloid precursor) (NACP)
Protein function Neuronal protein that plays several roles in synaptic activity such as regulation of synaptic vesicle trafficking and subsequent neurotransmitter release (PubMed:20798282, PubMed:26442590, PubMed:28288128, PubMed:30404828). Participates as a mon
PDB 1XQ8 , 2JN5 , 2KKW , 2M55 , 2N0A , 2X6M , 3Q25 , 3Q26 , 3Q27 , 3Q28 , 3Q29 , 4BXL , 4R0U , 4R0W , 4RIK , 4RIL , 4ZNN , 5CRW , 6A6B , 6CT7 , 6CU7 , 6CU8 , 6H6B , 6I42 , 6L1T , 6L1U , 6L4S , 6LRQ , 6OSJ , 6OSL , 6OSM , 6PEO , 6PES , 6RT0 , 6RTB , 6SST , 6SSX , 6UFR , 6XYO , 6XYP , 6XYQ , 7C1D , 7E0F , 7L7H , 7LC9 , 7NCA , 7NCG , 7NCH , 7NCI , 7NCJ , 7NCK
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01387 Synuclein 1 131 Synuclein Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in presynaptic terminals in the central nervous system. Expressed principally in brain. {ECO:0000269|PubMed:8194594}.
Sequence
Sequence length 140
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Alzheimer disease
Parkinson disease
Pathways of neurodegeneration - multiple diseases
  Amyloid fiber formation
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Parkinson disease Autosomal dominant Parkinson disease 1, Autosomal dominant Parkinson disease 4 rs104893877, rs104893878, rs431905511 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Anxiety Disorder Anxiety N/A N/A GWAS
Dementia Lewy body dementia N/A N/A GenCC
Diabetes Type 2 diabetes with ketoacidosis (PheCode 250.21) N/A N/A GWAS
Insomnia Insomnia N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Associate 20026050, 20132485, 22067166, 23349712, 27288043, 27352802, 29959225, 31424918, 31695369, 32170541, 32453478, 32457390, 32709107, 32868414, 35283247
View all (6 more)
Abnormalities Drug Induced Associate 12684441, 35648061
Acute cholinergic dysautonomia Associate 35563582
Adenocarcinoma of Lung Associate 32559455, 35421944
Adenoma Associate 21777459
Akinetic Mutism Associate 39256877
Alcoholism Associate 19196539, 32432761
Alternating hemiplegia of childhood Associate 26323479
Alzheimer Disease Associate 10407019, 10619569, 15912881, 16825955, 17761424, 19722699, 20024519, 20448034, 21056999, 21613474, 22701727, 23308173, 23603399, 24586351, 24729344
View all (24 more)
Alzheimer Disease Stimulate 30477568, 36142742