Gene Gene information from NCBI Gene database.
Entrez ID 6622
Gene name Synuclein alpha
Gene symbol SNCA
Synonyms (NCBI Gene)
NACPPARK1PARK4PD1
Chromosome 4
Chromosome location 4q22.1
Summary 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.
5
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.
42
miRTarBase ID miRNA Experiments Reference
MIRT000032 hsa-miR-7-5p qRT-PCRLuciferase reporter assayWestern blot 19628698
MIRT000032 hsa-miR-7-5p Luciferase reporter assay 19628698
MIRT000032 hsa-miR-7-5p ImmunocytochemistryLuciferase reporter assayqRT-PCRWestern blot 20106983
MIRT004733 hsa-miR-153-3p ImmunocytochemistryLuciferase reporter assayqRT-PCRWestern blot 20106983
MIRT054335 mmu-miR-153-3p Luciferase reporter assayqRT-PCRWestern blot 23595248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
188
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
163890 11138 ENSG00000145335
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
46
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Autosomal dominant Parkinson disease 1 Pathogenic; Likely pathogenic rs431905511, rs104893877, rs104893878, rs104893875 RCV000083251
RCV000015044
RCV000015045
RCV002514100
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant Parkinson disease 4 Pathogenic rs104893877 RCV004786261
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lewy body dementia Pathogenic rs104893877, rs104893875 RCV000526380
RCV000015047
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMPHETAMINE OR RELATED ACTING SYMPATHOMIMETIC ABUSE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMPHETAMINE-RELATED DISORDERS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Abnormal male sexual function Abnormal Male Sexual Function HPO_DG
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 26081225
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 29300342, 31718573
★☆☆☆☆
Found in Text Mining only
Adrenal Gland Pheochromocytoma Adrenal Gland Pheochromocytoma BEFREE 24269733, 28132806, 28810585
★☆☆☆☆
Found in Text Mining only
Adrenoleukodystrophy Adrenoleukodystrophy BEFREE 17653558
★☆☆☆☆
Found in Text Mining only
Adrenoleukodystrophy Adrenoleukodystrophy LHGDN 17653558
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 29369502
★☆☆☆☆
Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia BEFREE 23888327
★☆☆☆☆
Found in Text Mining only
Akinesia Akinesia HPO_DG
★☆☆☆☆
Found in Text Mining only
Alexander Disease Alexander Disease BEFREE 27133445
★☆☆☆☆
Found in Text Mining only