SNCA Gene (Protein Coding)

Synuclein Alpha

GC04M089724
GIFtS:
51
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 presynaptic signaling and membrane trafficking. Defects in SNCA have been implicated in the pathogenesis of Parkinson disease. SNCA pep... See more...

Aliases for SNCA Gene

Aliases for SNCA Gene

  • Synuclein Alpha 2 3 5
  • Alpha-Synuclein 2 3 4
  • Synuclein, Alpha (Non A4 Component Of Amyloid Precursor) 2 3
  • PARK1 3 4
  • NACP 3 4
  • Parkinson Disease (Autosomal Dominant, Lewy Body) 4 2
  • Non-A4 Component Of Amyloid Precursor 4
  • Non A4 Component Of Amyloid Precursor 2
  • Non A-Beta Component Of AD Amyloid 3
  • Non-A Beta Component Of AD Amyloid 4
  • Truncated Alpha Synuclein 3
  • Synuclein Alpha-140 3
  • I+/--Synuclein 3
  • Α-Synuclein 2
  • PARK4 3
  • PD1 3

External Ids for SNCA Gene

Previous HGNC Symbols for SNCA Gene

  • PARK1
  • PARK4

Previous GeneCards Identifiers for SNCA Gene

  • GC04M090804
  • GC04M090948
  • GC04M091105
  • GC04M091003
  • GC04M090646
  • GC04M086396

Summaries for SNCA Gene

Entrez Gene Summary for SNCA 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 presynaptic signaling and membrane trafficking. Defects in SNCA have been implicated in the pathogenesis of Parkinson disease. SNCA peptides are a major component of amyloid plaques in the brains of patients with Alzheimer's disease. Alternatively spliced transcripts encoding different isoforms have been identified for this gene. [provided by RefSeq, Feb 2016]

GeneCards Summary for SNCA Gene

SNCA (Synuclein Alpha) is a Protein Coding gene. Diseases associated with SNCA include Dementia, Lewy Body and Parkinson Disease 1, Autosomal Dominant. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway. Gene Ontology (GO) annotations related to this gene include calcium ion binding and enzyme binding. An important paralog of this gene is SNCB.

UniProtKB/Swiss-Prot Summary for SNCA Gene

  • Neuronal protein that plays several roles in synaptic activity such as regulation of synaptic vesicle trafficking and subsequent neurotransmitter release. Participates as a monomer in synaptic vesicle exocytosis by enhancing vesicle priming, fusion and dilation of exocytotic fusion pores (PubMed:28288128, PubMed:30404828). Mechanistically, acts by increasing local Ca(2+) release from microdomains which is essential for the enhancement of ATP-induced exocytosis (PubMed:30404828). Acts also as a molecular chaperone in its multimeric membrane-bound state, assisting in the folding of synaptic fusion components called SNAREs (Soluble NSF Attachment Protein REceptors) at presynaptic plasma membrane in conjunction with cysteine string protein-alpha/DNAJC5 (PubMed:20798282). This chaperone activity is important to sustain normal SNARE-complex assembly during aging (PubMed:20798282). Plays also a role in the regulation of the dopamine neurotransmission by associating with the dopamine transporter (DAT1) and thereby modulating its activity (PubMed:26442590).

Gene Wiki entry for SNCA Gene

Additional gene information for SNCA Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SNCA Gene

Genomics for SNCA Gene

GeneHancer (GH) Regulatory Elements for SNCA Gene

Promoters and enhancers for SNCA Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH04J089837 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 762.8 +1.3 1314 3.6 CTCF ZNF362 L3MBTL2 SP1 SP7 PRDM1 EGR1 GLIS2 ZBTB8A PRDM10 SNCA SNCA-AS1
GH04J089894 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.6 -59.8 -59774 7.9 CTCF ETV6 RAD21 MLLT1 IKZF1 CREB1 IKZF2 ATF7 PKNOX1 YBX1 MMRN1 SNCA piR-38344-099
GH04J089829 Enhancer 0.7 Ensembl ENCODE 11.8 +8.5 8514 2.8 ETV6 IKZF1 IKZF2 DPF2 ELF1 ATF7 SNCA SNCA-AS1 piR-50852-111
GH04J088997 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 5.4 +838.3 838300 5.5 HLF L3MBTL2 ZKSCAN8 ZNF384 BACH1 SP7 PRDM1 SMARCA4 ZNF639 TRIM24 FAM13A FAM13A-AS1 TIGD2 NAP1L5 SNCA HSALNG0035775 lnc-NAP1L5-4
GH04J089752 Enhancer 1.2 Ensembl ENCODE CraniofacialAtlas 4.6 +84.7 84714 2.8 CTBP1 ZNF362 MNT BCL6B SP7 PRDM1 CREB1 PKNOX1 POLR2A PRDM10 MMRN1 SNCA ENSG00000276542 ENSG00000277695 lnc-GPRIN3-4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SNCA on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SNCA gene promoter:
  • AP-1
  • ATF-2
  • c-Jun

Genomic Locations for SNCA Gene

Genomic Locations for SNCA Gene
chr4:89,724,099-89,838,315
(GRCh38/hg38)
Size:
114,217 bases
Orientation:
Minus strand
chr4:90,645,250-90,759,466
(GRCh37/hg19)
Size:
114,217 bases
Orientation:
Minus strand

Genomic View for SNCA Gene

Genes around SNCA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SNCA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SNCA Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for SNCA Gene

Proteins for SNCA Gene

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  • Protein details for SNCA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P37840-SYUA_HUMAN
    Recommended name:
    Alpha-synuclein
    Protein Accession:
    P37840
    Secondary Accessions:
    • A8K2A4
    • Q13701
    • Q4JHI3
    • Q6IAU6

    Protein attributes for SNCA Gene

    Size:
    140 amino acids
    Molecular mass:
    14460 Da
    Quaternary structure:
    • Soluble monomer. Homotetramer (PubMed:21841800). A dynamic intracellular population of tetramers and monomers coexists normally and the tetramer plays an essential role in maintaining homeostasis (PubMed:21841800). Interacts with UCHL1 (By similarity). Interacts with phospholipase D and histones. Interacts (via N-terminus) with synphilin-1/SNCAIP; this interaction promotes formation of SNCA inclusions in the cytoplasm (PubMed:19762560). Interacts with CALM1 (PubMed:23607618). Interacts with STXBP1; this interaction controls SNCA self-replicating aggregation (PubMed:27597756). Interacts with SNARE components VAMP2 and SNAP25; these interactions allows SNARE complex assembly and integrity (PubMed:20798282). Interacts with RPH3A and RAB3A (PubMed:15207266).

    Three dimensional structures from OCA and Proteopedia for SNCA Gene

    Alternative splice isoforms for SNCA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SNCA Gene

Protein Expression for SNCA Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for SNCA Gene

  • Phosphorylated, predominantly on serine residues. Phosphorylation by CK1 appears to occur on residues distinct from the residue phosphorylated by other kinases. Phosphorylation of Ser-129 is selective and extensive in synucleinopathy lesions. In vitro, phosphorylation at Ser-129 promoted insoluble fibril formation. Phosphorylated on Tyr-125 by a PTK2B-dependent pathway upon osmotic stress.
  • Hallmark lesions of neurodegenerative synucleinopathies contain alpha-synuclein that is modified by nitration of tyrosine residues and possibly by dityrosine cross-linking to generated stable oligomers.
  • Ubiquitinated. The predominant conjugate is the diubiquitinated form (By similarity).
  • Acetylation at Met-1 seems to be important for proper folding and native oligomeric structure.
  • Glycosylation at Thr54
  • Modification sites at PhosphoSitePlus

Other Protein References for SNCA Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Protein Products

No data available for DME Specific Peptides for SNCA Gene

Domains & Families for SNCA Gene

Gene Families for SNCA Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Transporters

Protein Domains for SNCA Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SNCA Gene

GenScript: Design optimal peptide antigens:
  • Synuclein alpha-140 (F6L6N6_HUMAN)
  • Non-A4 component of amyloid precursor (SYUA_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P37840

UniProtKB/Swiss-Prot:

SYUA_HUMAN :
  • The 'non A-beta component of Alzheimer disease amyloid plaque' domain (NAC domain) is involved in fibrils formation. The middle hydrophobic region forms the core of the filaments. The C-terminus may regulate aggregation and determine the diameter of the filaments.
  • Belongs to the synuclein family.
Domain:
  • The 'non A-beta component of Alzheimer disease amyloid plaque' domain (NAC domain) is involved in fibrils formation. The middle hydrophobic region forms the core of the filaments. The C-terminus may regulate aggregation and determine the diameter of the filaments.
Family:
  • Belongs to the synuclein family.
genes like me logo Genes that share domains with SNCA: view

Function for SNCA Gene

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  2. CRISPR
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Molecular function for SNCA Gene

UniProtKB/Swiss-Prot Function:
Neuronal protein that plays several roles in synaptic activity such as regulation of synaptic vesicle trafficking and subsequent neurotransmitter release. Participates as a monomer in synaptic vesicle exocytosis by enhancing vesicle priming, fusion and dilation of exocytotic fusion pores (PubMed:28288128, PubMed:30404828). Mechanistically, acts by increasing local Ca(2+) release from microdomains which is essential for the enhancement of ATP-induced exocytosis (PubMed:30404828). Acts also as a molecular chaperone in its multimeric membrane-bound state, assisting in the folding of synaptic fusion components called SNAREs (Soluble NSF Attachment Protein REceptors) at presynaptic plasma membrane in conjunction with cysteine string protein-alpha/DNAJC5 (PubMed:20798282). This chaperone activity is important to sustain normal SNARE-complex assembly during aging (PubMed:20798282). Plays also a role in the regulation of the dopamine neurotransmission by associating with the dopamine transporter (DAT1) and thereby modulating its activity (PubMed:26442590).
GENATLAS Biochemistry:
alpha synuclein,homolog to rat brain synuclein,non A/beta component of Alzheimer amyloid precursor alpha,expressed in presynaptic nerve terminals,also expressed in various areas of the brain including the substantia nigra,thalamus,hippocampus,amygdala,corpus callosum,caudate nucleus associating with PRKC and other proteins also binding to 14-3-3 (YWAHs) and acting as a potential chaperone,interacting with synphilin 1 (SNCAIP),putatively involved in exocytosis of synaptic vesicles,contributing to cell death in neurodegenerative diseases and accumulating in dentritic neurites and in Lewy bodies.

Phenotypes From GWAS Catalog for SNCA Gene

Gene Ontology (GO) - Molecular Function for SNCA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000149 SNARE binding IDA 20798282
GO:0000287 magnesium ion binding IDA 11850416
GO:0003779 actin binding IPI 18331289
GO:0005504 NOT fatty acid binding IDA 16687662
GO:0005507 copper ion binding IDA 21319811
genes like me logo Genes that share ontologies with SNCA: view
genes like me logo Genes that share phenotypes with SNCA: view

Human Phenotype Ontology for SNCA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SNCA Gene

MGI Knock Outs for SNCA:

Animal Model Products

CRISPR Products

miRNA for SNCA Gene

miRTarBase miRNAs that target SNCA

Clone Products

  • Addgene plasmids for SNCA

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SNCA Gene

Localization for SNCA Gene

Subcellular locations from UniProtKB/Swiss-Prot for SNCA Gene

Cytoplasm. Membrane. Nucleus. Cell junction, synapse. Secreted. Note=Membrane-bound in dopaminergic neurons. {ECO:0000269 PubMed:15282274}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SNCA gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 5
mitochondrion 5
nucleus 5
cytosol 5
lysosome 4
endoplasmic reticulum 3
golgi apparatus 3
endosome 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for SNCA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IDA,TAS --
GO:0005615 extracellular space IDA 24936070
GO:0005634 nucleus IEA,IDA 12406186
GO:0005640 nuclear outer membrane IEA --
GO:0005737 cytoplasm IDA 12406186
genes like me logo Genes that share ontologies with SNCA: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SNCA Gene

Pathways & Interactions for SNCA Gene

genes like me logo Genes that share pathways with SNCA: view

Pathways by source for SNCA Gene

2 Reactome pathways for SNCA Gene
2 KEGG pathways for SNCA Gene
1 GeneGo (Thomson Reuters) pathway for SNCA Gene
2 Qiagen pathways for SNCA Gene
  • 14-3-3 Induced Intracellular Signaling
  • Parkinson's Disease Pathway
1 Cell Signaling Technology pathway for SNCA Gene

SIGNOR curated interactions for SNCA Gene

Is activated by:
Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for SNCA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II TAS 24252804
GO:0001774 microglial cell activation TAS 24252804
GO:0001921 positive regulation of receptor recycling IDA 18980610
GO:0001933 negative regulation of protein phosphorylation IEA --
GO:0001956 positive regulation of neurotransmitter secretion IEA --
genes like me logo Genes that share ontologies with SNCA: view

Drugs & Compounds for SNCA Gene

Products:

  1. Drug

(56) Drugs for SNCA Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma Target 227
Iron Approved, Experimental Pharma 1452
Resveratrol Approved, Experimental, Investigational Pharma Target Cyclooxygenase inhibitor 147

(43) Additional Compounds for SNCA Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SNCA: view

Transcripts for SNCA Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for SNCA Gene

(4) REFSEQ mRNAs :
(28) Additional mRNA sequences :
(241) Selected AceView cDNA sequences:
(13) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for SNCA

Alternative Splicing Database (ASD) splice patterns (SP) for SNCA Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c · 9d · 9e
SP1: - - - -
SP2: - - -
SP3: - -
SP4: -
SP5: - - -
SP6:

Relevant External Links for SNCA Gene

GeneLoc Exon Structure for
SNCA
ECgene alternative splicing isoforms for
SNCA

Expression for SNCA Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SNCA Gene

mRNA expression in normal human tissues for SNCA Gene
mRNA expression by BioGPS for SNCA GenemRNA expression by GTEx for SNCA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SNCA Gene

This gene is overexpressed in Brain - Anterior cingulate cortex (BA24) (x6.2), Brain - Frontal Cortex (BA9) (x5.2), and Whole Blood (x4.4).

Protein differential expression in normal tissues from HIPED for SNCA Gene

This gene is overexpressed in Brain (22.8) and Peripheral blood mononuclear cells (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SNCA Gene



NURSA nuclear receptor signaling pathways regulating expression of SNCA Gene:

SNCA

SOURCE GeneReport for Unigene cluster for SNCA Gene:

Hs.21374

mRNA Expression by UniProt/SwissProt for SNCA Gene:

P37840-SYUA_HUMAN
Tissue specificity: Highly expressed in presynaptic terminals in the central nervous system. Expressed principally in brain.

Evidence on tissue expression from TISSUES for SNCA Gene

  • Nervous system(4.9)
  • Bone marrow(2.9)
  • Kidney(2.8)
  • Blood(2.5)
  • Adrenal gland(2.2)
  • Skin(2.2)
  • Muscle(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SNCA Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • mouth
  • olfactory bulb
  • pharynx
Thorax:
  • diaphragm
  • esophagus
  • heart
  • lung
Abdomen:
  • stomach
Pelvis:
  • urethra
  • urinary bladder
Limb:
  • foot
  • hand
  • lower limb
  • upper limb
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with SNCA: view

No data available for Protein tissue co-expression partners for SNCA Gene

Orthologs for SNCA Gene

This gene was present in the common ancestor of chordates.

Orthologs for SNCA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia SNCA 33 32
  • 100 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia SNCA 33 32
  • 94.05 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia SNCA 33 32
  • 92.38 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Snca 17 33 32
  • 90.71 (n)
rat
(Rattus norvegicus)
 Mammalia Snca 32
  • 89.76 (n)
chicken
(Gallus gallus)
 Aves SNCA 33 32
  • 85 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia SNCA 33
  • 81 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia snca 32
  • 80.05 (n)
Str.12735 32
African clawed frog
(Xenopus laevis)
 Amphibia snca-prov 32
zebrafish
(Danio rerio)
 Actinopterygii sncga 33
  • 51 (a)
 ManyToMany
Species where no ortholog for SNCA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SNCA Gene

ENSEMBL:
Gene Tree for SNCA (if available)
TreeFam:
Gene Tree for SNCA (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SNCA: view image

Paralogs for SNCA Gene

Paralogs for SNCA Gene

(3) SIMAP similar genes for SNCA Gene using alignment to 7 proteins:

  • SYUA_HUMAN
  • D6RA31_HUMAN
  • E7EPV7_HUMAN
  • H6UYS0_HUMAN
  • H6UYS5_HUMAN
  • H6UYS7_HUMAN
  • Q4W5L2_HUMAN
genes like me logo Genes that share paralogs with SNCA: view

Variants for SNCA Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for SNCA Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs10024743 likely-benign, Parkinson Disease, Dominant 89,726,489(-) A/C 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1045722 benign, Parkinson Disease, Dominant 89,724,520(-) T/A 3_prime_UTR_variant, genic_downstream_transcript_variant
rs104893875 pathogenic, Lewy body dementia, Dementia, Lewy body (DLB) [MIM:127750], Parkinson disease 1, autosomal dominant (PARK1) [MIM:168601] 89,828,170(-) C/T coding_sequence_variant, missense_variant
rs104893877 pathogenic, Parkinson disease 1, Lewy body dementia, Parkinson disease 1, autosomal dominant (PARK1) [MIM:168601] 89,828,149(-) C/T coding_sequence_variant, missense_variant
rs104893878 pathogenic, Parkinson disease 1, Parkinson disease 1, autosomal dominant (PARK1) [MIM:168601] 89,835,580(-) C/G coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for SNCA Gene

Variant ID Type Subtype PubMed ID
esv2676889 CNV deletion 23128226
esv3564227 CNV deletion 23714750
esv3569579 CNV loss 25503493
esv3569580 CNV loss 25503493
esv3569581 CNV loss 25503493
nsv1012406 CNV loss 25217958
nsv1139284 CNV deletion 24896259
nsv461576 CNV gain 19166990
nsv477626 CNV novel sequence insertion 20440878
nsv594806 CNV gain 21841781
nsv966296 CNV duplication 23825009

Variation tolerance for SNCA Gene

Residual Variation Intolerance Score: 57.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.56; 12.09% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SNCA Gene

Human Gene Mutation Database (HGMD)
SNCA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SNCA

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SNCA Gene

Disorders for SNCA Gene

MalaCards: The human disease database

(89) MalaCards diseases for SNCA Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search SNCA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SYUA_HUMAN
  • Note=Genetic alterations of SNCA resulting in aberrant polymerization into fibrils, are associated with several neurodegenerative diseases (synucleinopathies). SNCA fibrillar aggregates represent the major non A-beta component of Alzheimer disease amyloid plaque, and a major component of Lewy body inclusions. They are also found within Lewy body (LB)-like intraneuronal inclusions, glial inclusions and axonal spheroids in neurodegeneration with brain iron accumulation type 1.
  • Parkinson disease 1, autosomal dominant (PARK1) [MIM:168601]: A complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability. Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia. The pathology of Parkinson disease involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. The disease is progressive and usually manifests after the age of 50 years, although early-onset cases (before 50 years) are known. The majority of the cases are sporadic suggesting a multifactorial etiology based on environmental and genetic factors. However, some patients present with a positive family history for the disease. Familial forms of the disease usually begin at earlier ages and are associated with atypical clinical features. {ECO:0000269 PubMed:14755719, ECO:0000269 PubMed:23427326, ECO:0000269 PubMed:23457019, ECO:0000269 PubMed:24936070, ECO:0000269 PubMed:25561023, ECO:0000269 PubMed:9197268, ECO:0000269 PubMed:9462735}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Parkinson disease 4, autosomal dominant (PARK4) [MIM:605543]: A complex neurodegenerative disorder with manifestations ranging from typical Parkinson disease to dementia with Lewy bodies. Clinical features include parkinsonian symptoms (resting tremor, rigidity, postural instability and bradykinesia), dementia, diffuse Lewy body pathology, autonomic dysfunction, hallucinations and paranoia. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Dementia, Lewy body (DLB) [MIM:127750]: A neurodegenerative disorder characterized by mental impairment leading to dementia, parkinsonism, fluctuating cognitive function, visual hallucinations, falls, syncopal episodes, and sensitivity to neuroleptic medication. Brainstem or cortical intraneuronal accumulations of aggregated proteins (Lewy bodies) are the only essential pathologic features. Patients may also have hippocampal and neocortical senile plaques, sometimes in sufficient number to fulfill the diagnostic criteria for Alzheimer disease. {ECO:0000269 PubMed:14755719}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SNCA

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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No data available for Genatlas for SNCA Gene

Publications for SNCA Gene

  1. Genetic association studies of methamphetamine use disorders: A systematic review and synthesis. (PMID: 19219857) Bousman CA … Tsuang MT (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009) 3 23 43 56
  2. Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms. (PMID: 19139307) Ibáñez P … French Parkinson's Disease Genetics Study Group (Archives of neurology 2009) 3 23 43 56
  3. Study of association between alpha-synuclein gene polymorphism and methamphetamine psychosis/dependence. (PMID: 15542733) Kobayashi H … Sora I (Annals of the New York Academy of Sciences 2004) 3 23 43 56
  4. Lipid rafts mediate the synaptic localization of alpha-synuclein. (PMID: 15282274) Fortin DL … Edwards RH (The Journal of neuroscience : the official journal of the Society for Neuroscience 2004) 3 4 23 56
  5. Mutation E46K increases phospholipid binding and assembly into filaments of human alpha-synuclein. (PMID: 15498564) Choi W … Goedert M (FEBS letters 2004) 3 4 23 56

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