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SNCA Gene

protein-coding GIFtS: 69

GC04M090948

synuclein, alpha (non A4 component of amyloid precursor)
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: PARK1)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
MGC110988 ^²
NACP ^¹, ², ³, ⁵
OTTHUMP00000161559 ^²
OTTHUMP00000161561 ^²
PARK1 ^², ³, ⁵
PARK4 ^², ⁵
PD1 ^¹, ²
alpha-synuclein ^¹, ²

Descriptions
Non-A beta component of AD amyloid ^³
Non-A4 component of amyloid precursor ^³
alpha-synuclein, isoform NACP140 ^²
non A-beta component of AD amyloid ^²
synuclein, alpha (non A4 component of amyloid precursor) ^²

External Ids
HGNC: 11138¹
Entrez Gene: 6622²
UniProtKB: P37840³
Ensembl: ENSG00000145335⁷

Search outside databases for aliases for SNCA gene

Previous GC identifers: GC04M090804 GC04M091105 GC04M091003

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for SNCA:

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. Four alternatively spliced transcripts encoding two different isoforms have been

identified for this gene. [provided by RefSeq]

UniProtKB/Swiss-Prot: SYUA_HUMAN, P37840

Function: May be involved in the regulation of dopamine release and transport. Soluble protein,

normally localized primarily at the presynaptic region of axons, which can form filamentous

aggregates that are the major non amyloid component of intracellular inclusions in several

neurodegenerative diseases (synucleinopathies). Induces fibrillization of microtubule-associated

protein tau. Reduces neuronal responsiveness to various apoptotic stimuli, leading to a decreased

caspase-3 activation

Gene Wiki entry for SNCA (Alpha-synuclein)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the SNCA gene

Entrez Gene cytogenetic band: 4q21 Ensembl cytogenetic band: 4q22.1 HGNC cytogenetic band: 4q21.3-q22

SNCA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 4 GeneLoc Exon Structure

GeneLoc location for GC04M090948: (about GC identifiers)

Start:	90,865,728 bp from pter
End:	90,978,489 bp from pter
Size:	112,762 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000004.10 NT_016354.18

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: SYUA_HUMAN, P37840 (See protein sequence)

Recommended Name: Alpha-synuclein

Size: 140 amino acids; 14460 Da

Subunit: Soluble monomer which can form filamentous aggregates. Interacts with UCHL1 (By

similarity). Interacts with phospholipase D and histones

Subcellular location: Cytoplasm. Membrane. Nucleus. Note=Membrane-bound in dopaminergic neurons.

Also found in the nucleus

PDB structure from and Proteopedia :

1XQ8 (3D)

2JN5 (3D)

Secondary accessions: Q13701 Q4JHI3 Q6IAU6

Alternative splicing: 3 isoforms: P37840-1 P37840-2 P37840-3 (Additional isoforms seem to exist)

Post-translational modifications:

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

stress¹

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

oligomers¹

Ubiquitinated. The predominant conjugate is the diubiquitinated form (By similarity)¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (4 alternative transcripts):

NP_000336.1 NP_001139526.1 NP_001139527.1 NP_009292.1

ENSEMBL proteins:

ENSP00000378437 ENSP00000338345 ENSP00000378442 ENSP00000343683 ENSP00000378440

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Millipore Purified and/or Recombinant SNCA Protein
	Sigma-Aldrich Proteins for SNCA
	Browse R&D Systems for human recombinant proteins
	Enzo Life Sciences proteins for SNCA
	Recombinant Proteins from Abcam (alpha + beta Synuclein, pan Synuclein, alpha Synuclein)
	Human Recombinant Proteins from Abnova (SNCA)

OriGene Purified Recombinant Human Protein: SNCA

5 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IEA	--
GO:0005737	cytoplasm	TAS	8248242
GO:0005829	cytosol	IDA	14507911
GO:0016020	membrane	IEA	--
GO:0043205	fibril	IDA	18346205

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Antibodies for SNCA:

	Invitrogen Antibodies for SNCA
	Millipore Mono- and Polyclonal Antibodies for the study of SNCA
	Sigma-Aldrich Antibody Arrays and Antibodies for SNCA
	R&D Systems Antibodies for SNCA (Synuclein-alpha)
	Cell Signaling Technology (CST) Antibodies for SNCA (Alpha-Synuclein)
	Antibodies from Abcam (alpha + beta Synuclein, pan Synuclein, alpha Synuclein), each with their Abpromise^SM
	Browse Abnova for Monoclonal and Polyclonal Antibodies
	Novus Biologicals Antibodies for SNCA

Assays for SNCA:

	Invitrogen Assays for SNCA
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

Graphical View of Domain Structure for InterPro Entry P37840

ProtoNet protein and cluster: P37840

2 Blocks protein families:

IPB001058 Synuclein signature

IPB002460 Alpha-synuclein signature

UniProtKB/Swiss-Prot: SYUA_HUMAN, P37840

Domain: The NAC domain is involved in the fibril formation. The middle region forms the core of the

filaments. The C-terminus may regulate aggregation and determine the diameter of the filaments

Similarity: Belongs to the synuclein family

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (SNCA)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (SNCA)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_000345

Applied Biosystems Silencer® siRNAs for SNCA

Sigma-Aldrich siRNA and siRNA Panels for SNCA

Sigma-Aldrich shRNA Panels and shRNA for SNCA

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for SNCA
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_000345
Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_000345
untagged cDNA clones in CMV expression vector (see all 2): NM_000345

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_000345

UniProtKB/Swiss-Prot: SYUA_HUMAN, P37840

Function: May be involved in the regulation of dopamine release and transport. Soluble protein,

normally localized primarily at the presynaptic region of axons, which can form filamentous

aggregates that are the major non amyloid component of intracellular inclusions in several

neurodegenerative diseases (synucleinopathies). Induces fibrillization of microtubule-associated

protein tau. Reduces neuronal responsiveness to various apoptotic stimuli, leading to a decreased

caspase-3 activation

Genatlas biochemistry entry for SNCA:

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.

11 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Snca):

behavior/neurological	cellular	endocrine/exocrine gland	growth/size	homeostasis/metabolism
immune system	life span-post-weaning/aging	nervous system	renal/urinary system	reproductive system
skeleton

1 Gene Ontology (GO) molecular function term (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	11956199

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(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

4 Sigma-Aldrich "Your Favorite Gene" Pathways for SNCA (Your Favorite Gene powered by Ingenuity)

Mitochondrial Dysfunction
Parkinson's Signaling
Huntington's Disease Signaling
14-3-3-mediated Signaling

GeneDecks SNCA for the pathways selected above

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Gene Network Central^TM Interacting Genes and Proteins Network for SNCA

5/85 Interacting proteins for SNCA (P37840² ENSP00000338345³) via UniProtKB, MINT, and/or STRING (see all 85 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
TPPP	O94811², ENSP00000353785³	MINT-3387974 STRING (score=.888)
SNCA	P37840²	MINT-2634529
VIM	P08670²	MINT-2515544
PARK2	ENSP00000355865³	STRING (score=.999)
SNCAIP	ENSP00000261367³	STRING (score=.999)

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4 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006916	anti-apoptosis	TAS	10818098
GO:0007417	central nervous system development	TAS	9197268
GO:0014059	regulation of dopamine secretion	IEA	--
GO:0032769	negative regulation of monooxygenase activity	IDA	11943812

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for SNCA
10/52 Novoseek chemical compound relationships for SNCA gene (see all 52 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
thioflavin t	75.38	15	12217698 (1), 19013262 (1), 12435752 (1), 18433772 (1) (see all 12)
1 methyl 4 phenylpyridinium	66.28	32	19032594 (5), 16464850 (3), 15978696 (2), 12807439 (2) (see all 11)
thioflavin	66.24	2	12397073 (1)
thioflavine s	60.15	2	10208537 (1), 9675319 (1)
dityrosine	58.44	9	12534296 (1), 12846977 (1), 14640973 (1), 15033422 (1) (see all 7)
1-benzyl-1,2,3,4-tetrahydroisoquinoline	52.88	2	15114628 (2)
methionine sulfoxide	45.58	2	16800638 (1), 15680224 (1)
3-nitrotyrosine	45.42	12	11935266 (4), 16978743 (1), 16305213 (1), 17999181 (1) (see all 6)
tyrosine	40.37	72	11943812 (6), 19014385 (3), 11442360 (2), 18070606 (2) (see all 48)
iron	33.61	66	11850416 (6), 18491043 (4), 10208537 (2), 10934254 (2) (see all 31)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (SNCA)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (SNCA)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_000345

Sigma-Aldrich siRNA and siRNA Panels for SNCA

Sigma-Aldrich shRNA Panels and shRNA for SNCA

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000345 NM_007308

REFSEQ mRNAs for SNCA gene (4 alternative transcripts):

NM_000345.3 NM_001146054.1 NM_001146055.1 NM_007308.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000345 NM_007308

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_000345
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_000345
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_000345

Additional cDNA sequence:

AK290169.1 AY049786.1 BC013293.2 BC108275.1 CR457058.1 CR541653.1 CR602374.1 CR622483.1

D31839.1 L08850.1 L36674.1 L36675.1

11 DOTS entries:

DT.95184593 DT.447727 DT.87008987 DT.92439052 DT.109632 DT.40112165 DT.121222010 DT.100026062

DT.95184589 DT.95184594 DT.95361564

24/241 AceView cDNA sequences (see all 241 ):

D31839 CA772053 CD671498 BU616657 AI929792 BI522471 NM_000345 F06981

BI753605 L36675 BF984352 CQ824596 BG260394 CA841249 AW156890 F07521

CA840988 AI361980 BQ723475 BF725795 CF529302 F01363 F03751 L36674

highest scoring ESTs for SNCA:

L08850 AV724842 AW163060 AW163372 AW498656 BC013293 BE389793 BI598643 BI753605 BQ231032

Unigene Cluster for SNCA:

Synuclein, alpha (non A4 component of amyloid precursor)

Hs.21374 [show with all ESTs]

Unigene Representative Sequence: NM_000345

GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for SNCA (see all 6 )

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

About this scheme

ECgene alternative splicing isoforms for SNCA

5 Ensembl transcripts including schematic representations:

ENST00000394986 ENST00000336904 ENST00000394991 ENST00000345009 ENST00000394989

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

SNCA expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for SNCA

¹ / ² / ³

12 probe-sets matching SNCA gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
44191_at²	U95-B	1	1.00	1.00	1.00	1.00	--	--	--	--	--
37291_r_at²^{, 3}	U95-A	1	1.00	1.00	0.77	0.38	L08850	1.00	1.00	1.00	1
211546_x_at²^{, 3}	U133-A	1	1.00	1.00	--	--	L36674	0.60	1.00	0.82	1
207827_x_at²^{, 3}	U133-A	1	1.00	1.00	--	--	L36675	0.60	1.00	0.82	1
236081_at²	U133-B	1	1.00	1.00	--	--	--	--	--	--	--
204467_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_000345	0.60	1.00	0.82	1
204466_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	BG260394	0.60	1.00	0.82	1
211546_x_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
207827_x_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
236081_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
204467_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
204466_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks SNCA for binary patterns associated with the probe-sets selected above

About GeneDecksing

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: --

SOURCE GeneReport for Unigene cluster: Hs.21374
Expression variation in blood from EXPOLDB for SNCA
UniProtKB/Swiss-Prot: SYUA_HUMAN, P37840
Tissue specificity: Expressed principally in brain but is also expressed in low concentrations in
all tissues examined except in liver. Concentrated in presynaptic nerve terminals

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for SNCA gene from 5/8 species (see all 8 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	SNCA¹	--	synuclein, alpha (non A4 component of amyloid precursor)	94.05(n) 96.43(a)	478478 XM_535656.2 XP_535656.1
chimpanzee (Pan troglodytes)	SNCA¹	--	synuclein, alpha (non A4 component of amyloid precursor)	100(n) 100(a)	461375 XM_001162416.1 XP_001162416.1
cow (Bos taurus)	SNCA¹	--	synuclein, alpha (non A4 component of amyloid precursor)	92.38(n) 94.29(a)	282857 NM_001034041.1 NP_001029213.1
rat (Rattus norvegicus)	Snca¹	--	synuclein, alpha (non A4 component of amyloid precursor)	89.76(n) 95(a)	29219 NM_019169.2 NP_062042.1
mouse (Mus musculus)	Snca^{1, 5}	6 (29.00 cM)⁵	synuclein, alpha^{1, 5}	90.71(n)¹ 95(a)¹	20617¹ NM_009221.2¹ NP_033247.1¹ AF033261⁵ AF044672⁵ (see all 17)

About this table Species with no ortholog for SNCA

ENSEMBL Gene Tree for SNCA

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for SNCA gene

SNCB² SNCG²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/887 NCBI SNPs in SNCA are shown (see all 887 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 442)

AB	SNP ID	Valid	Chr 4 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs2619361^1,2	A,C,F,H,O	90976758(+)	`CTTTCC/ATTAGG`	2	--	ng3¹ int¹ trp³		12	NA EU EA WA NS	716
	rs2301134^1,2	A,C,F,H	90977968(-)	`CTCCCC/TTTCAC`	1	--	ng3¹ trp³		5	EA EU WA	1668
--	rs356165^1,2	A,C,F,H	90865909(+)	`aatacG/Ataaag`	2	--	ut3¹ ng5¹		12	EA NA MN EU WA NS	786
	rs1372519^1,2	A,C,F,H	90976332(+)	`ACAGCG/AGGCCC`	2	--	ng3¹ int¹		14	EA NA MN EU WA NS	916
	rs17016074^1,2	C,F,H	90866301(+)	`ACATCG/ACAAAA`	2	--	ut3¹		12	NA EU EA WA NS	746
	rs1372520^1,2	A,C,F	90976528(+)	`CCTCCC/TTGCAC`	2	--	int¹ ng3¹		8	NA NS	304
	rs1372518^1,2	A,C,F	90976317(+)	`TTCAAC/ACTCAG`	2	--	int¹ ng3¹		8	NA NS	314
	rs3756059^1,2	A,C,F	90976295(+)	`TAACTA/GCTCAC`	2	--	ng3¹ int¹		8	NA NS	318
	rs2245801^1,2	A,C,F	90976863(-)	`GCCGGG/ATGGGA`	2	--	int¹ ng3¹		8	NA NS	322
	rs12233696^1,2	C,F,H	90978660(+)	`CTGAAA/GTTTGA`	1	--	ng3¹		5	EU EA NA	316

About this table

HapMap Linkage Disequilibrium images for SNCA (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 163890 disorders: 168601 605543 127750

UniProtKB/Swiss-Prot: SYUA_HUMAN, P37840

Defects in SNCA are a cause of autosomal dominant Parkinson disease 1 (PARK1) [MIM:168601,

168600]. Parkinson disease (PD) is a complex, multifactorial disorder that typically manifests

after the age of 50 years, although early-onset cases (before 50 years) are known. PD generally

arises as a sporadic condition but is occasionally inherited as a simple mendelian trait. Although

sporadic and familial PD are very similar, inherited forms of the disease usually begin at earlier

ages and are associated with atypical clinical features. PD is characterized by bradykinesia,

resting tremor, muscular rigidity and postural instability, as well as by a clinically significant

response to treatment with levodopa. The pathology 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

Defects in SNCA are the cause of Parkinson disease 4 (PARK4) [MIM:605543, 168600]

Defects in SNCA are the cause of Lewy body dementia (DLB) [MIM:127750]. DLB is a

neurodegenerative disorder clinically characterized by dementia and parkinsonism, often with

fluctuating cognitive function, visual hallucinations, falls, syncopal episodes, and sensitivity

to neuroleptic medication. Presence of Lewy bodies are the only essential pathologic features

Deposition of fibrillar amyloid proteins intraneuronally as neurofibrillary tangles is

characteristic of Alzheimer disease (AD). SNCA is a minor protein found within these deposits, but

a major non amyloid component

Brain iron accumulation type 1 (NBIA1, also called Hallervorden-Spatz syndrome), a rare

neuroaxonal dystrophy, is histologically characterized by axonal spheroids, iron deposition, Lewy

body (LB)-like intraneuronal inclusions, glial inclusions and neurofibrillary tangles. SNCA is

found in LB-like inclusions, glial inclusions and spheroids

10/95 Novoseek disease relationships for SNCA gene (see all 95 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
parkinson disease	96.08	1032	12558071 (5), 15447678 (4), 10766891 (4), 12576551 (3) (see all 99)
lewy body disease	93.26	100	11483242 (3), 16565714 (3), 16297436 (2), 9759660 (2) (see all 79)
multiple system atrophy	92.91	147	12710935 (2), 16640654 (2), 11893734 (2), 14722716 (2) (see all 99)
parkinson disease, autosomal dominant	91.50	41	17222106 (2), 11433638 (1), 11447721 (1), 16447757 (1) (see all 28)
neurodegenerative diseases	91.29	254	10809401 (3), 10407019 (3), 12719631 (3), 11821392 (2) (see all 99)
neurodegeneration	86.28	153	15791003 (3), 15181239 (3), 15681812 (2), 16137567 (2) (see all 99)
parkinsonism	85.28	74	18571778 (4), 11455179 (2), 15451224 (2), 19139307 (2) (see all 52)
dementia	84.19	242	19221426 (4), 12576551 (3), 17683088 (3), 17011551 (2) (see all 99)
tauopathies	83.54	17	16897136 (1), 18322396 (1), 14503637 (1), 16973207 (1) (see all 14)
alzheimers disease	80.85	152	18804502 (3), 12223532 (2), 9759660 (2), 7606927 (2) (see all 99)

About this table

GeneTests: SNCA

Parkinson Disease

Human Gene Mutation Database: SNCA
Genetic Association Database: SNCA
Human Genome Epidemiology Navigator: SNCA (71 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

10/1421 PubMed articles for SNCA gene (see all 1421 ):

Molecular cloning of cDNA encoding an unrecognized component of amyloid in Alzheimer disease. (PubMed id 8248242)^{2, 3, 4} Ueda K.... Saitoh T. (1993)
Alpha-synuclein interacts with phospholipase D isozymes and inhibits pervanadate-induced phospholipase D activation in human embryonic kidney-293 cells. (PubMed id 11821392)^{1, 3, 4} Ahn B.H.... Min do S. (2002)
Recent advances on alpha-synuclein cell biology: functions and dysfunctions. (PubMed id 12558071)^{1, 3, 4} Alves da Costa C. (2003)
Constitutive phosphorylation of the Parkinson's disease associated alpha-synuclein. (PubMed id 10617630)^{1, 3, 4} Okochi M.... Haass C. (2000)
Beta-synuclein gene alterations in dementia with Lewy bodies. (PubMed id 15365127)^{1, 3, 6} Ohtake H....La Spada A.R. (2004)
Interaction of alpha-synuclein and tau genotypes in Parkinson's disease. (PubMed id 15732111)^{1, 3, 6} Mamah C.E....Maraganore D.M. (2005)
Australian data and meta-analysis lend support for alpha-synuclein (NACP-Rep1) as a risk factor for Parkinson's disease. (PubMed id 15670652)^{1, 3, 6} Mellick G.D....Silburn P.A. (2005)
alpha-Synuclein promoter confers susceptibility to Parkinson's disease. (PubMed id 15455394)^{1, 3, 6} Pals P....Farrer M.J. (2004)
Mutation E46K increases phospholipid binding and assembly into filaments of human alpha-synuclein. (PubMed id 15498564)^{1, 3, 4} Choi W.... Goedert M. (2004)
Identification and characterization of a novel Pyk2/related adhesion focal tyrosine kinase-associated protein that inhibits alpha-synuclein phosphorylation. (PubMed id 12893833)^{1, 3, 4} Takahashi T.... Matsumoto M. (2003)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 6622	HGNC: 11138	AceView: SNCA	Ensembl:ENSG00000145335	euGenes: HUgn6622
ECgene: SNCA	H-InvDB: SNCA

(According to HUGE)
About This Section

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
GeneReviews	http://www.genetests.org/query?gene=SNCA
NIEHS-SNPs	http://egp.gs.washington.edu/data/snca/

Licensable Technologies for SNCA
(Available from WIS Yeda, Salk, Tufts)

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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
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Products for SNCA:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for SNCA-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for SNCA		Antibodies for SNCA
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	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Recombinant Proteins (SNCA)
	Search for Antibodies
	Chimera RNAi (SNCA)
	Custom Service for Mouse Mab
	Custom Service for Rabbit Pab from Full-length Protein

Antibodies & Assays for SNCA (Alpha-Synuclein)

	Recombinant Proteins (alpha + beta Synuclein, pan Synuclein, alpha Synuclein)
	Antibodies (alpha + beta Synuclein, pan Synuclein, alpha Synuclein)

	Tagged/untagged cDNA clones
	Validated SYBR primer pairs
	Purified proteins from HEK293T cells
	Western blot validated antibodies
	shRNA in GFP-retroviral vector

Search Tocris compounds for SNCA

	Proteins for SNCA
	Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Antibodies for SNCA

GeneCards Homepage - Last full update: 2 Jul 2009 Incremental update: 13 Oct 2009

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SNCA Gene

protein-coding GIFtS: 69

Aliases &
Descriptions
for SNCA

Summaries
for SNCA

Genomic Location
for SNCA

Proteins
for SNCA

Protein Domains/
Families
for SNCA

Gene Function
for SNCA

Pathways & Interactions
for SNCA

Drugs & Compounds
for SNCA

Transcripts
for SNCA

Expression
for SNCA

Orthologs
for SNCA

Paralogs
for SNCA

SNPs/Variants
for SNCA

Disorders & Mutations
for SNCA

Medical News
for SNCA

Publications
for SNCA

Search for SNCA

Genome Databases showing SNCA

Other Databases showing SNCA

Specialized Databases showing SNCA

Licensable Technologies
for SNCA

Services
for SNCA

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

SNCA Gene

protein-coding GIFtS: 69

Aliases & Descriptionsfor SNCA

Summariesfor SNCA

Genomic Locationfor SNCA

Proteinsfor SNCA

Protein Domains/Familiesfor SNCA

Gene Functionfor SNCA

Pathways & Interactionsfor SNCA

Drugs & Compoundsfor SNCA

Transcriptsfor SNCA

Expression for SNCA

Orthologsfor SNCA

Paralogsfor SNCA

SNPs/Variantsfor SNCA

Disorders & Mutationsfor SNCA

Medical Newsfor SNCA

Publicationsfor SNCA

Search for SNCA

Genome Databases showing SNCA

Other Databases showing SNCA

Specialized Databases showing SNCA

Licensable Technologiesfor SNCA

Servicesfor SNCA

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for SNCA

Summaries
for SNCA

Genomic Location
for SNCA

Proteins
for SNCA

Protein Domains/
Families
for SNCA

Gene Function
for SNCA

Pathways & Interactions
for SNCA

Drugs & Compounds
for SNCA

Transcripts
for SNCA

Expression
for SNCA

Orthologs
for SNCA

Paralogs
for SNCA

SNPs/Variants
for SNCA

Disorders & Mutations
for SNCA

Medical News
for SNCA

Publications
for SNCA

Licensable Technologies
for SNCA

Services
for SNCA