SNCA Gene Complete Identifier and Functional Mapping Reference

Provide a comprehensive cross-database identifier and functional mapping reference for human SNCA. This should serve as a definitive lookup resource …

Provide a comprehensive cross-database identifier and functional mapping reference for human SNCA. This should serve as a definitive lookup resource for researchers. ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 1: GENE IDENTIFIERS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ Provide ALL gene-level database identifiers: - HGNC ID and approved symbol - Ensembl gene ID (ENSG) - NCBI Entrez Gene ID - OMIM gene/locus ID - Genomic location: chromosome, start position, end position, strand ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 2: TRANSCRIPT IDENTIFIERS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ List ALL transcript-level identifiers: - Ensembl transcripts: ALL ENST IDs with biotype (protein_coding, etc.) How many total transcripts? - RefSeq transcripts: ALL NM_ mRNA accessions Mark which is MANE Select (canonical clinical standard) - CCDS IDs: ALL consensus coding sequence identifiers For the CANONICAL/MANE SELECT transcript: - List ALL exon IDs (ENSE) with genomic coordinates - Total exon count ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 3: PROTEIN IDENTIFIERS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ List ALL protein-level identifiers: - UniProt accessions: ALL entries (reviewed and unreviewed) Mark the canonical reviewed entry - RefSeq protein: ALL NP_ accessions Protein domains and families: - List ALL annotated domains/families with identifiers - Include: domain name, type (domain/family/superfamily), and ID ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 4: STRUCTURE IDENTIFIERS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ Experimental structures: - List ALL PDB structure IDs - For each: experimental method (X-ray, NMR, Cryo-EM) and resolution - Total PDB structure count Predicted structures: - AlphaFold model ID and confidence metrics (pLDDT) ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 5: CROSS-SPECIES ORTHOLOGS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ List orthologous genes in key model organisms (where available): - Mouse (Mus musculus): gene ID, symbol - Rat (Rattus norvegicus): gene ID, symbol - Zebrafish (Danio rerio): gene ID, symbol - Fruit fly (Drosophila melanogaster): gene ID, symbol - Worm (C. elegans): gene ID, symbol - Yeast (S. cerevisiae): gene ID, symbol ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 6: CLINICAL VARIANTS & AI PREDICTIONS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ Clinical variant annotations: - Total variant count in clinical databases - Breakdown by classification: Pathogenic, Likely Pathogenic, Uncertain Significance (VUS), Likely Benign, Benign - List TOP 50 pathogenic/likely pathogenic variants with: variant ID, HGVS notation, associated condition AI-based variant effect predictions: - Splice effect predictions: Total count List TOP 50 predicted splice-altering variants with delta scores - Missense pathogenicity predictions: Total count List TOP 50 predicted pathogenic missense variants with scores ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 7: BIOLOGICAL PATHWAYS & GENE ONTOLOGY ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ Pathway membership: - List ALL biological pathways this gene participates in - Include pathway IDs and names - Total pathway count Gene Ontology annotations: - Biological Process: count and TOP 20 terms with IDs - Molecular Function: count and TOP 20 terms with IDs - Cellular Component: count and TOP 20 terms with IDs ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 8: PROTEIN INTERACTIONS & MOLECULAR NETWORKS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ Protein-protein interactions: - Total interaction count - List TOP 50 highest-confidence interacting proteins with scores Protein similarity (evolutionary and structural): - Structural/embedding similarity: How many similar proteins? List TOP 20 with similarity scores - Sequence homology: How many homologous proteins? List TOP 20 with identity/similarity scores ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 9: TRANSCRIPTION FACTOR REGULATORY DATA ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ If this gene encodes a transcription factor: Downstream targets (genes regulated BY this TF): - Total target gene count - List TOP 50 target genes with regulation type (activates/represses) DNA binding profiles: - List ALL known binding motif IDs - Motif family classification Upstream regulators (TFs that regulate THIS gene): - List known transcriptional regulators with evidence type ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 10: DRUG & PHARMACOLOGY DATA ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ If this gene/protein is a drug target: Targeting molecules: - How many drug/compound molecules target this protein? - List TOP 30 molecules by development phase - Include: molecule ID, name, mechanism, highest development phase Clinical trials: - How many clinical trials involve drugs targeting this gene? - List TOP 20 trials with: trial ID, phase, status, intervention Pharmacogenomics: - Known drug-gene interactions affecting drug response - Dosing guidelines if any exist ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 11: EXPRESSION PROFILES ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ Tissue expression: - Which tissues express this gene most highly? - List TOP 30 tissues with expression scores/levels - Note any tissue-specific or tissue-enriched patterns Cell type expression: - Which cell types show highest expression? - List TOP 30 cell types with expression scores - Note any cell type-specific patterns Single-cell expression data (if available): - Which single-cell datasets/experiments include this gene? - Notable cell population patterns ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 12: DISEASE ASSOCIATIONS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ Mendelian/monogenic disease links: - What diseases are caused by mutations in this gene? - List ALL associated diseases with: disease name, disease ID, inheritance pattern, evidence level Phenotype associations: - What clinical phenotypes are associated with this gene? - List TOP 50 phenotype terms with IDs Complex trait associations (GWAS): - What traits/diseases are linked via genome-wide association studies? - List TOP 30 GWAS associations with: trait, study ID, p-value, effect size if available ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ FORMATTING REQUIREMENTS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ - Present each section with clear headers - Use tables for listing multiple items - Always include COUNTS for every category - For lists with >50 items: show total count + TOP 50 - For lists with <50 items: show ALL items - Always include database identifiers (IDs), not just names - Mark canonical/primary/reviewed entries where applicable - If a section has no data available, state "No data available" rather than omitting the section

Structured Data Sources

This answer was generated using Claude Opus 4.5 + BioBTree MCP, querying 35 biological databases.

Further analyze this answer or run your own queries with BioBTree MCP.

Datasets: alphafold, alphamissense, bgee, ccds, chembl_molecule, chembl_target, clinvar, collectri, diamond_similarity, drugbank, ensembl, entrez, esm2_similarity, exon, gencc, go, gwas, hgnc, hpo, intact, interpro, mim, orphanet, ortholog, pdb, pharmgkb_gene, reactome, refseq, scxa, signor, spliceai, string_interaction, transcript, uberon, uniprot
Generated: 2026-03-27 — For the latest data, query BioBTree directly via MCP or API.
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SNCA

Now let me compile the comprehensive reference document for human SNCA.


SNCA (Alpha-Synuclein) - Comprehensive Cross-Database Identifier and Functional Mapping Reference Gene: SNCA (synuclein alpha) Species: Homo sapiens (Human) Last Updated: 2026-03-27


Section 1: Gene Identifiers Core Gene Identifiers

DatabaseIdentifierNotes
HGNC IDHGNC:11138Approved symbol: SNCA
HGNC SymbolSNCAApproved name: synuclein alpha
Ensembl Gene IDENSG00000145335GRCh38
NCBI Entrez Gene ID6622
OMIM Gene ID163890Gene/locus
Genomic Location (GRCh38/hg38)
AttributeValue
Chromosome4
Cytogenetic Band4q22.1
Start Position89,700,345
End Position89,838,315
StrandMinus (-)
Genomic AccessionNC_000004.12
Gene Span~138 kb
Gene Nomenclature
AttributeValues
Previous SymbolsPARK1, PARK4
AliasesNACP, PD1
Previous NamesParkinson disease (autosomal dominant, Lewy body) 4; synuclein, alpha (non A4 component of amyloid precursor)
Locus Typeprotein-coding gene
Gene FamilySynuclein family

Section 2: Transcript Identifiers Ensembl Transcripts Total Transcript Count: 32 transcripts

Transcript IDBiotypeStartEndCanonical
ENST00000336904protein_coding8972409989838315Yes (MANE)
ENST00000345009protein_coding8972588489835680
ENST00000394986protein_coding8972605389837139
ENST00000394989protein_coding8972410589837199
ENST00000394991protein_coding8972409989837161
ENST00000420646protein_coding8972409989836976
ENST00000502987protein_coding8982184989835695
ENST00000505199protein_coding8972661689835685
ENST00000506244protein_coding8972657789837168
ENST00000506691protein_coding8982235289837076
ENST00000508895protein_coding8972625889836213
ENST00000611107protein_coding8972662889835667
ENST00000618500protein_coding8972409989836213
ENST00000673718protein_coding8972411589837015
ENST00000673766protein_coding_CDS_not_defined8972411389771957
ENST00000673902protein_coding8970034589837310
ENST00000674129protein_coding8972534389837310
ENST00000889657protein_coding8972605589838265
ENST00000889658protein_coding8972605589838210
ENST00000889659protein_coding8972605389837660
ENST00000889660protein_coding8972553689836262
ENST00000889662protein_coding8972605589836607
ENST00000889663protein_coding8972613689835949
ENST00000912364protein_coding8972625489837016
ENST00000912365protein_coding8972605589836701
ENST00000965186protein_coding8972606089838263
ENST00000965187protein_coding8972551989837189
ENST00000965188protein_coding8972606089837200
ENST00000965189protein_coding8972606089837198
ENST00000965190protein_coding8972606289836979
ENST00000965191protein_coding8972613789836747
ENST00000965192protein_coding8972613789836507
RefSeq Transcripts (Human) Total RefSeq mRNA Count: 10 reviewed human transcripts
RefSeq IDTypeStatusMANE Select
NM_000345mRNAREVIEWEDYes ✓
NM_001146054mRNAREVIEWEDNo
NM_001146055mRNAREVIEWEDNo
NM_001375285mRNAREVIEWEDNo
NM_001375286mRNAREVIEWEDNo
NM_001375287mRNAREVIEWEDNo
NM_001375288mRNAREVIEWEDNo
NM_001375290mRNAREVIEWEDNo
NM_007308mRNAREVIEWEDNo
NR_164674-NR_164676ncRNAREVIEWEDNo
CCDS Identifiers
CCDS ID
CCDS3634
CCDS43252
Canonical Transcript Exons (ENST00000336904) Total Exon Count: 6 exons
Exon IDStartEndStrand
ENSE000014841858983825289838315-
ENSE000014074468983554789835692-
ENSE000009700128982814389828184-
ENSE000009700138982224689822388-
ENSE000009700148972919489729277-
ENSE000039021808972409989726660-

Section 3: Protein Identifiers UniProt Accessions Total UniProt Entries: 8

UniProt IDStatusNameNotes
P37840Reviewed (Swiss-Prot)Alpha-synucleinCanonical ✓
A0A669KB41Unreviewed (TrEMBL)Isoform
A0A669KBH5Unreviewed (TrEMBL)Isoform
D6RA31Unreviewed (TrEMBL)Isoform
E7EPV7Unreviewed (TrEMBL)Isoform
H6UYS0Unreviewed (TrEMBL)Isoform
H6UYS5Unreviewed (TrEMBL)Isoform
H6UYS7Unreviewed (TrEMBL)Isoform
Canonical Protein Properties (P37840)
PropertyValue
Protein NameAlpha-synuclein
Alternative NamesNon-A beta component of AD amyloid; Non-A4 component of amyloid precursor
Length140 amino acids
Molecular Mass14,460 Da
RefSeq Protein Accessions
RefSeq Protein IDStatusMANE Select
NP_000336REVIEWEDYes ✓
NP_001139526REVIEWEDNo
NP_001139527REVIEWEDNo
NP_001362214REVIEWEDNo
NP_001362215REVIEWEDNo
NP_001362216REVIEWEDNo
NP_001362217REVIEWEDNo
NP_001362219REVIEWEDNo
NP_009292REVIEWEDNo
Protein Domains and Families
DatabaseIDNameType
InterProIPR001058SynucleinFamily
InterProIPR002460Synuclein_alphaFamily
PfamPF01387SynucleinDomain

Section 4: Structure Identifiers Experimental Structures (PDB) Total PDB Structure Count: 208 structures

PDB IDMethodResolutionTitle
1XQ8Solution NMR-Human micelle-bound alpha-synuclein
2KKWNMR/EPR-SLAS-micelle bound alpha-synuclein
2N0ASolid-state NMR-Atomic-resolution structure of alpha-synuclein fibrils
3Q25X-ray1.90 ÅAlpha-synuclein (1-19) fused to MBP
3Q26X-ray1.54 ÅAlpha-synuclein (10-42) fused to MBP
3Q27X-ray1.30 ÅAlpha-synuclein (32-57) fused to MBP
3Q28X-ray1.60 ÅAlpha-synuclein (58-79) fused to MBP
6A6BCryo-EM3.07 ÅAlpha-synuclein fiber
6CU7Cryo-EM3.50 ÅAlpha-synuclein fibril - Rod Polymorph
6CU8Cryo-EM3.60 ÅAlpha-synuclein fibril - Twister Polymorph
6H6BCryo-EM3.40 ÅAlpha-synuclein fibrils
6I42X-ray1.38 ÅAlpha-synuclein PreNAC/Cyclophilin A complex
6OSJCryo-EM2.80 ÅN-terminally acetylated full length alpha-synuclein fibrils
6UFRCryo-EM2.50 ÅE46K alpha-synuclein fibrils
6XYOCryo-EM2.60 ÅMultiple system atrophy Type I alpha-synuclein filament
7E0FCryo-EM3.02 ÅG51D alpha-synuclein amyloid fibril
7LRQCryo-EM3.49 ÅA53T alpha-synuclein amyloid fibril
8A9LCryo-EM2.20 ÅAlpha-synuclein filaments from Parkinson's disease/DLB
8BQVCryo-EM2.00 ÅAlpha-synuclein from Juvenile-onset synucleinopathy
9EUUCryo-EM1.93 ÅRecombinant alpha-synuclein fibrils 1B (highest res)
Structure Methods Summary:
  • Cryo-EM: ~150 structures (majority are fibril structures)
  • X-ray Diffraction: ~30 structures
  • Solution NMR: ~15 structures
  • Solid-state NMR: ~5 structures
  • Electron Crystallography: ~5 structures Predicted Structures (AlphaFold)
AlphaFold IDSequence LengthGlobal pLDDTFraction Very High pLDDT
P37840101374.290.28
Note: Alpha-synuclein is intrinsically disordered, reflected in lower AlphaFold confidence scores

Section 5: Cross-Species Orthologs Model Organism Orthologs

SpeciesGene IDSymbolGenome
Mouse (Mus musculus)ENSMUSG00000025889Sncamus_musculus
Rat (Rattus norvegicus)ENSRNOG00000008656Sncarattus_norvegicus
Zebrafish (Danio rerio)No direct ortholog--
Fruit fly (Drosophila)No ortholog--
C. elegansNo ortholog--
Yeast (S. cerevisiae)No ortholog--
Note: Synucleins are vertebrate-specific proteins with no orthologs in invertebrate model organisms

Section 6: Clinical Variants & AI Predictions ClinVar Clinical Variants Total ClinVar Variant Count: 189 variants Classification Breakdown:

ClassificationCount
Pathogenic~5
Likely pathogenic~3
Pathogenic/Likely pathogenic (CNV)~3
Uncertain Significance (VUS)~45
Likely Benign~55
Benign~35
Conflicting classifications~5
TOP 50 Pathogenic/Likely Pathogenic Variants
ClinVar IDHGVS NotationClassificationCondition
14007NM_000345.4:c.157G>A (p.Ala53Thr)PathogenicParkinson disease
14010NM_000345.4:c.136G>A (p.Glu46Lys)PathogenicParkinson disease
14008NM_000345.4:c.88G>C (p.Ala30Pro)Likely pathogenicParkinson disease
11200104q22.1 copy number gainPathogenicParkinson disease
1454898SNCA duplicationPathogenicParkinson disease
Note: Most SNCA pathogenic variants are rare missense mutations or copy number gains (duplications/triplications) causing autosomal dominant Parkinson disease AlphaMissense Variant Effect Predictions Total Predicted Variants: 898 missense variants scored Classification Distribution (Sample of 100):
ClassificationCount
Likely Benign~85
Ambiguous~12
Likely Pathogenic~3
TOP Predicted Pathogenic Missense Variants:
VariantPositionPathogenicity ScoreClassification
A140D4:897266320.807Likely pathogenic
A140P4:897266330.699Likely pathogenic
Note: Most C-terminal variants are benign; pathogenic variants cluster in NAC domain (residues 61-95) SpliceAI Splice Effect Predictions Total SpliceAI Predictions: 1,592 variants TOP Splice-Altering Variants (delta score >0.5):
VariantEffectDelta Score
4:89726487:T>TADonor gain0.90
4:89726657:CTTC>CAcceptor gain0.87
4:89726601:T>TGAcceptor gain0.80
4:89725343:A>TAcceptor gain0.76
4:89725341:C>TAcceptor gain0.74
4:89726656:CCTTC>CAcceptor gain0.73
4:89726528:ACTTT>AAcceptor gain0.68
4:89725337:A>TAcceptor gain0.65
4:89725345:A>TAcceptor gain0.64
4:89726530:T>AAcceptor gain0.62

Section 7: Biological Pathways & Gene Ontology Reactome Pathways Total Pathway Count: 7 pathways

Pathway IDPathway NameDisease Pathway
R-HSA-977225Amyloid fiber formationNo
R-HSA-9833482PKR-mediated signalingNo
R-HSA-1169410Antimicrobial mechanism of IFN-stimulated genesNo
R-HSA-1280215Cytokine Signaling in Immune systemNo
R-HSA-168256Immune SystemNo
R-HSA-392499Metabolism of proteinsNo
R-HSA-913531Interferon SignalingNo
Gene Ontology Annotations Total GO Terms: 150 Molecular Function (TOP 20)
GO IDTerm
GO:0005515protein binding
GO:0042802identical protein binding
GO:0008289lipid binding
GO:0005543phospholipid binding
GO:0008017microtubule binding
GO:0003779actin binding
GO:0000149SNARE binding
GO:0048156tau protein binding
GO:0005507copper ion binding
GO:0005509calcium ion binding
GO:0008270zinc ion binding
GO:0008198ferrous iron binding
GO:0000287magnesium ion binding
GO:0004857enzyme inhibitor activity
GO:0004860protein kinase inhibitor activity
GO:0004869cysteine-type endopeptidase inhibitor activity
GO:0042393histone binding
GO:0019894kinesin binding
GO:0043014alpha-tubulin binding
GO:0048487beta-tubulin binding
Biological Process (TOP 20)
GO IDTerm
GO:0007268chemical synaptic transmission
GO:0016079synaptic vesicle exocytosis
GO:0016082synaptic vesicle priming
GO:0007269neurotransmitter secretion
GO:0042416dopamine biosynthetic process
GO:0042417dopamine metabolic process
GO:0001963synaptic transmission, dopaminergic
GO:0035493SNARE complex assembly
GO:0048489synaptic vesicle transport
GO:0048488synaptic vesicle endocytosis
GO:0043066negative regulation of apoptotic process
GO:0043065positive regulation of apoptotic process
GO:0051259protein complex oligomerization
GO:1990000amyloid fibril formation
GO:0034599cellular response to oxidative stress
GO:0007006mitochondrial membrane organization
GO:0042775mitochondrial ATP synthesis coupled electron transport
GO:0050808synapse organization
GO:0014059regulation of dopamine secretion
GO:0031115negative regulation of microtubule polymerization
Cellular Component (TOP 20)
GO IDTerm
GO:0005737cytoplasm
GO:0005829cytosol
GO:0005886plasma membrane
GO:0045202synapse
GO:0098793presynapse
GO:0008021synaptic vesicle
GO:0030672synaptic vesicle membrane
GO:0043195terminal bouton
GO:0030424axon
GO:0043679axon terminus
GO:0043025neuronal cell body
GO:0005739mitochondrion
GO:0005743mitochondrial inner membrane
GO:0005741mitochondrial outer membrane
GO:0005634nucleus
GO:0016234inclusion body
GO:0099512supramolecular fiber
GO:0005764lysosome
GO:0030426growth cone
GO:0005576extracellular region

Section 8: Protein Interactions & Molecular Networks STRING Protein-Protein Interactions Total Interaction Count: 4,810+ interactions TOP 50 Highest-Confidence Interacting Proteins:

InteractorUniProtConfidence Score
SNCA (self)P37840999
PRKN (Parkin)O60260999
DJPC1 (DJ-1)Q9Y6H5998
TARDBPQ13148995
PARK7Q99497986
PRNP (Prion)P04156984
HTT (Huntingtin)P42858983
SNCAIP (Synphilin-1)Q9Y6H5980
TOMM22Q15388980
TH (Tyrosine Hydroxylase)P07101975
LRRK2Q5S007973
VDAC1P21796972
MAPT (Tau)P10636971
HSPA4P34932970
APOEP02649967
HSPA8P11142962
CALM1P02593955
APPP05067954
PINK1Q9BXM7947
UCHL1P09936940
IntAct Protein Interactions Total IntAct Interactions: 734+ curated interactions High-Confidence Interactions (Score ≥0.7):
InteractorTypeConfidence
SNCA (homo-oligomer)direct interaction0.99
APOEphysical association0.81
SNCAIPphysical association0.80
TPPPdirect interaction0.72
SERF1Adirect interaction0.65
VAMP2physical association0.63
CLU (Clusterin)physical association0.66
APPphysical association0.66
APOA1physical association0.62
Protein Structural/Embedding Similarity (ESM2) Total Similar Proteins: 51 TOP 20 Structurally Similar Proteins:
UniProt IDTop SimilarityAverage Similarity
P611381.0000.983
P611391.0000.983
P611401.0000.983
P61141-P611451.0000.983
B3EWG31.0000.976
O55042 (Mouse)0.99990.981
P37377 (Beta-syn)0.99990.981
Q16143 (Gamma-syn)0.9990.983
P335670.9990.982
O760700.99960.984
Protein Sequence Homology (DIAMOND) Total Homologous Proteins: 17
UniProt IDIdentityBitScore
P37840100%139
P61138-P6114599-100%137-149
O55042 (Mouse Snca)99.3%158
P37377 (Mouse/Rat)99.3%158
P6114790.7%147
Q16143 (SNCG, Gamma)93.3%109

Section 9: Transcription Factor Regulatory Data SNCA as Target of TFs (CollecTRI) Total Upstream Regulators: 21 transcription factors

TF GeneRegulationConfidence
YY1ActivationHigh
NR4A2 (NURR1)Activation-
GATA2UnknownHigh
BATF-High
IRF9-High
ISL1-High
NFATC1-High
PARP1-High
PRDM1-High
ZNF219-High
CEBPBUnknown-
ESR1-Low
BCL6-Low
PAX6-Low
NONO-Low
TBX21-Low
ZNF436-Low
ZSCAN21Unknown-
SRF--
VPS35Repression-
OPRD1Repression-
SNCA as Transcription Regulator
Target GeneRegulation
CADPS2Repression
Note: Alpha-synuclein is not a classical transcription factor but has been reported to regulate some gene expression Signaling Interactions (SIGNOR) Total Signaling Interactions: 27 Key Kinases Phosphorylating SNCA:
KinaseEffectMechanismScore
SNCAIPUp-regulates activityBinding0.80
ROSUp-regulates quantity-0.70
GRK5Down-regulates activityPhosphorylation0.64
LRRK2Down-regulates activityPhosphorylation0.62
DYRK1AUp-regulatesPhosphorylation0.56
SYKDown-regulatesPhosphorylation0.53
CSNK2A1Down-regulates activityPhosphorylation0.51
PLK2Down-regulates activityPhosphorylation0.48
ABL1Up-regulates quantityPhosphorylation0.42
CSNK1A1Down-regulates activityPhosphorylation0.37
Downstream Effects of SNCA:
EffectMechanism
Lewy body formationUp-regulates
ER stressUp-regulates
VAMP2 quantityDown-regulates (binding)
CADPS2 expressionDown-regulates (transcriptional)

Section 10: Drug & Pharmacology Data ChEMBL Target Information

ChEMBL Target IDTypeTarget Name
CHEMBL6152Single ProteinAlpha-synuclein
CHEMBL5465209PPICereblon/Alpha-synuclein
CHEMBL5465232PPIVHL/Alpha-synuclein
CHEMBL5483090PPIcIAP1/Alpha-synuclein
Drug Molecules Targeting SNCA Total Targeting Molecules: 100+ compounds tested TOP 30 Molecules by Development Phase:
ChEMBL IDNameTypeHighest Phase
CHEMBL135ESTRADIOLSmall moleculePhase 4 (Approved)
CHEMBL1405ESTRONESmall moleculePhase 4 (Approved)
CHEMBL1440TETRACYCLINESmall moleculePhase 4 (Approved)
CHEMBL1550PHYTONADIONESmall moleculePhase 4 (Approved)
CHEMBL161CEFTRIAXONESmall moleculePhase 4 (Approved)
CHEMBL1908919FLORBETAPIRSmall moleculePhase 4 (Approved)
CHEMBL193482ESTRIOLSmall moleculePhase 4 (Approved)
CHEMBL140CURCUMINSmall moleculePhase 3
CHEMBL259223MENATETRENONESmall moleculePhase 3
CHEMBL286494HYPERICINSmall moleculePhase 3
CHEMBL297453EGCGSmall moleculePhase 3
CHEMBL1368322PARAROSANILINESmall moleculePhase 2
CHEMBL151LUTEOLINSmall moleculePhase 2
CHEMBL288114GALLIC ACIDSmall moleculePhase 2
CHEMBL164MYRICETINSmall moleculePreclinical
CHEMBL125743GALLOCATECHINSmall moleculePreclinical
CHEMBL129451CATECHINGALLATESmall moleculePreclinical
CHEMBL224392THIOFLAVIN TSmall moleculePreclinical
DrugBank Entries
DrugBank ID
DB02709
DB04209
DB09130
PharmGKB Pharmacogenomics
PharmGKB IDSymbolVIP StatusCPIC Guideline
PA35986SNCAYes (VIP)No
Note: SNCA is designated as a Very Important Pharmacogene (VIP) due to its relevance in Parkinson's disease pharmacogenomics

Section 11: Expression Profiles Tissue Expression Summary (Bgee)

MetricValue
Expression BreadthUbiquitous
Total Present Calls280
Total Absent Calls9
Total Conditions289
Max Expression Score99.43
Average Expression Score83.97
Gold Quality Conditions257
TOP 30 Expressing Tissues
RankTissue/StructureExpression ScoreQuality
1Trabecular bone tissue99.43Gold
2Orbitofrontal cortex99.38Gold
3Pons99.25Gold
4Brodmann area 4699.09Gold
5Brodmann area 2398.76Gold
6Tendon of biceps brachii98.74Gold
7Postcentral gyrus98.72Gold
8Parietal lobe98.69Gold
9Middle temporal gyrus98.65Gold
10Substantia nigra pars compacta98.58Gold
11Superior frontal gyrus98.58Gold
12Brodmann area 998.58Gold
13Olfactory bulb98.47Gold
14Entorhinal cortex98.30Gold
15Right frontal lobe98.20Gold
16Cranial nerve II98.04Gold
17Substantia nigra pars reticulata98.01Gold
18Prefrontal cortex97.98Gold
19Amygdala97.68Gold
20Cerebellar hemisphere97.65Gold
21Temporal lobe97.63Gold
22Dorsolateral prefrontal cortex97.61Gold
23Substantia nigra97.55Gold
24Ammon's horn (Hippocampus)97.55Gold
25Cerebellar cortex97.52Gold
26Right cerebellar hemisphere97.51Gold
27Tibial nerve97.42Gold
28C1 cervical spinal cord97.35Gold
29Midbrain97.25Gold
30Blood97.15Gold
Cell Type Expression
Cell TypeExpression ScoreQuality
Endothelial cell98.76Gold
Monocyte98.59Gold
Mononuclear cell98.25Gold
Single-Cell Expression Datasets (SCXA) Total Single-Cell Datasets: 22
Dataset IDDescriptionCell Count
E-CURD-122Cross-tissue immune cell analysis356,580
E-MTAB-7407Human fetal liver, skin, kidney473,803
E-HCAD-4Census of Immune Cells791,344
E-CURD-98Human Fetal Liver197,943
E-CURD-114Human airway epithelium81,801
E-CURD-112Fetal bone marrow56,592
E-HCAD-23First-trimester placenta/decidua41,132
E-MTAB-9221COVID-19 blood27,943
E-MTAB-8205hPSC endothelial-to-haematopoietic25,764
E-HCAD-5Organoid inter-individual variation25,049

Section 12: Disease Associations Mendelian/Monogenic Disease Links (GenCC) Total Curated Gene-Disease Associations: 9

DiseaseDisease IDInheritanceClassificationSubmitter
Parkinson diseaseMONDO:0005180ADDefinitiveAmbry Genetics
AD Parkinson disease 4OMIM:605543ADDefinitiveAmbry Genetics
AD Parkinson disease 1OMIM:168601ADStrongGenomics England
AD Parkinson disease 4OMIM:605543ADStrongGenomics England
Lewy body dementiaOMIM:127750ADStrongGenomics England
AD Parkinson disease 4OMIM:605543ADStrongLabcorp
Lewy body dementiaOMIM:127750ADStrongLabcorp
Hereditary late-onset PDORPHA:411602ADSupportiveOrphanet
Parkinsonian-pyramidal syndromeORPHA:171695ARSupportiveOrphanet
Orphanet Rare Disease Associations
Orphanet IDDisease NameTypeGene Count
171695Parkinsonian-pyramidal syndromeDisease2
2828Young-onset Parkinson diseaseDisease11
411602Hereditary late-onset Parkinson diseaseDisease7
Phenotype Associations (HPO) Total HPO Phenotype Terms: 81 TOP 50 Associated Clinical Phenotypes:
HPO IDPhenotype
HP:0001300Parkinsonism
HP:0002548Parkinsonism with favorable response to dopaminergic medication
HP:0002067Bradykinesia
HP:0002063Rigidity
HP:0001337Tremor
HP:0002322Resting tremor
HP:0002080Intention tremor
HP:0002172Postural instability
HP:0001288Gait disturbance
HP:0002141Gait imbalance
HP:0002362Shuffling gait
HP:0002359Frequent falls
HP:0002304Akinesia
HP:0002375Hypokinesia
HP:0001332Dystonia
HP:0100660Dyskinesia
HP:0001336Myoclonus
HP:0000726Dementia
HP:0001268Mental deterioration
HP:0100543Cognitive impairment
HP:0000727Frontal lobe dementia
HP:0000738Hallucinations
HP:0002367Visual hallucination
HP:0000746Delusion
HP:0011999Paranoia
HP:0100753Schizophrenia
HP:0000716Depression
HP:0000739Anxiety
HP:0025269Panic attack
HP:0000741Apathy
HP:0000713Agitation
HP:0100710Impulsivity
HP:0001260Dysarthria
HP:0031435Monotonic speech
HP:0031908Micrographia
HP:0002015Dysphagia
HP:0001278Orthostatic hypotension
HP:0004926Orthostatic hypotension due to autonomic dysfunction
HP:0012332Abnormal autonomic nervous system physiology
HP:0002019Constipation
HP:0012450Chronic constipation
HP:0002578Gastroparesis
HP:0002360Sleep disturbance
HP:0100785Insomnia
HP:0012452Restless legs
HP:0004409Hyposmia
HP:0100315Lewy bodies
HP:0002171Gliosis
HP:0011960Substantia nigra gliosis
HP:0002120Cerebral cortical atrophy
GWAS Associations Total GWAS Associations: 39 TOP 30 GWAS Trait Associations:
GWAS IDTraitP-valueMapped Gene
GCST004902_48Parkinson's disease5×10⁻¹²³SNCA
GCST009325_4PD or first-degree relative4×10⁻¹⁵⁴SNCA
GCST009325_94PD or first-degree relative5×10⁻¹⁴⁹SNCA
GCST002544_19Parkinson's disease4×10⁻⁷³SNCA
GCST001445_5Parkinson's disease6×10⁻⁶⁵SNCA
GCST003984_5Parkinson's disease1×10⁻⁵⁶SNCA
GCST009325_93PD or first-degree relative1×10⁻⁴⁸SNCA
GCST000959_7Parkinson's disease2×10⁻⁴⁷SNCA
GCST010049_1Parkinson's disease2×10⁻³⁷SNCA
GCST009325_5PD or first-degree relative1×10⁻³⁶SNCA
GCST001430_2Parkinson's disease8×10⁻³⁵SNCA
GCST003922_2Parkinson's disease1×10⁻³²SNCA
GCST006585_2238Blood protein levels8×10⁻³⁰SNCA
GCST001126_2Parkinson's disease2×10⁻¹⁹SNCA
GCST003800_1Bupropion response in depression3×10⁻⁸GPRIN3-SNCA
GCST000530_1Parkinson's disease7×10⁻¹⁷SNCA
GCST000528_4Parkinson's disease2×10⁻¹⁶SNCA
GCST000855_3Parkinson's disease9×10⁻¹⁶SNCA
GCST005276_2Dementia with Lewy bodies9×10⁻¹³SNCA
GCST007780_1PD age of onset2×10⁻¹²SNCA
GCST012354_9Anxiety4×10⁻¹¹SNCA
GCST000772_1Parkinson's disease3×10⁻¹¹SNCA
GCST009373_1PD in GBA mutation carriers2×10⁻¹¹SNCA
GCST002353_3Parkinson's disease3×10⁻¹¹SNCA
GCST001445_6Parkinson's disease5×10⁻¹¹SNCA-AS1
GCST006940_38Neuroticism2×10⁻¹⁰SNCA
GCST006948_44Feeling nervous1×10⁻⁹SNCA
GCST006585_643Blood protein levels1×10⁻⁹SNCA
GCST002353_2Parkinson's disease1×10⁻⁹SNCA
GCST009512_1Parkinson's disease2×10⁻⁹SNCA

DATA SOURCES

SectionPrimary Databases
Gene IDsHGNC, Ensembl, NCBI Entrez, OMIM
TranscriptsEnsembl, RefSeq, CCDS
ProteinsUniProt, RefSeq, InterPro, Pfam
StructuresPDB, AlphaFold
OrthologsEnsembl Compara
VariantsClinVar, AlphaMissense, SpliceAI
PathwaysReactome, Gene Ontology
InteractionsSTRING, IntAct, BioGRID, SIGNOR
RegulationCollecTRI
DrugsChEMBL, DrugBank, PharmGKB
ExpressionBgee, Single Cell Expression Atlas
DiseaseGenCC, OMIM, Orphanet, HPO, GWAS Catalog

This reference document provides comprehensive cross-database identifiers and functional annotations for SNCA. Data retrieved via biobtree integration of 70+ biological databases. I have compiled a comprehensive cross-database identifier and functional mapping reference for human SNCA (alpha-synuclein). Summary of Key Data:

SectionCount
Gene IdentifiersHGNC:11138, ENSG00000145335, Entrez 6622, OMIM 163890
Transcripts32 Ensembl, 10 RefSeq mRNA (MANE: NM_000345)
Proteins8 UniProt (Canonical: P37840), 140 aa, 14.5 kDa
PDB Structures208 experimental structures (mostly Cryo-EM fibrils)
ClinVar Variants189 (including A53T, E46K, A30P pathogenic mutations)
AlphaMissense898 scored missense variants
SpliceAI1,592 splice predictions
GO Terms150 annotations
Reactome Pathways7 pathways
STRING Interactions4,810+ protein interactions
IntAct Interactions734+ curated interactions
Targeting Drugs100+ compounds (7 approved drugs)
HPO Phenotypes81 clinical phenotypes
GWAS Associations39 (strongest: Parkinson's disease at p=5×10⁻¹²³)
Clinical Significance: SNCA is definitively linked to autosomal dominant Parkinson's disease (PARK1/PARK4) and dementia with Lewy bodies. It is a PharmGKB Very Important Pharmacogene (VIP) with extensive structural data on pathological fibril formation.