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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]
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 Neuroscience and Parkinsons Disease Pathway. Gene Ontology (GO) annotations related to this gene include calcium ion binding and enzyme binding. An important paralog of this gene is SNCB.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000149 | SNARE binding | IDA | 20798282 |
GO:0000287 | magnesium ion binding | IDA | 11850416 |
GO:0000976 | transcription regulatory region sequence-specific DNA binding | TAS | 24252804 |
GO:0003779 | actin binding | IPI | 18331289 |
GO:0004860 | protein kinase inhibitor activity | TAS | 30194957 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IDA,TAS | -- |
GO:0005615 | extracellular space | IDA | 24936070 |
GO:0005623 | cell | IEA | -- |
GO:0005634 | nucleus | IEA,IDA | 12406186 |
GO:0005640 | nuclear outer membrane | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Parkinson disease | ||
2 | Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway |
Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway
.97
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3 | Neuroscience | ||
4 | Nanog in Mammalian ESC Pluripotency |
14-3-3 Induced Intracellular Signaling
.59
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5 | Chks in Checkpoint Regulation |
Parkinson's Disease Pathway
.30
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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 | IMP | -- |
GO:0001956 | positive regulation of neurotransmitter secretion | IDA | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
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ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9a | · | 9b | · | 9c | · | 9d | · | 9e |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||||
SP5: | - | - | - | ||||||||||||||||||||||||
SP6: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SNCA 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SNCA 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SNCA 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Snca 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Snca 30 |
|
||
Chicken (Gallus gallus) |
Aves | SNCA 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SNCA 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | snca 30 |
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||
Str.12735 30 |
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African clawed frog (Xenopus laevis) |
Amphibia | snca-prov 30 |
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||
Zebrafish (Danio rerio) |
Actinopterygii | sncga 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
652694 | Uncertain Significance: Lewy body dementia; Parkinson disease 1 | 89,729,235(-) | G/T | MISSENSE_VARIANT,INTRON_VARIANT | |
704527 | Benign: Parkinson Disease, Dominant; not provided | 89,822,265(-) | T/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
705925 | Conflicting Interpretations: Lewy body dementia; Parkinson disease 1; Parkinson Disease, Dominant; not provided | 89,822,336(-) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
729798 | Likely Benign: not provided | 89,835,560(-) | A/G | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
763646 | Likely Benign: not provided | 89,828,136(-) | A/C | INTRON_VARIANT |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
dementia, lewy body |
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parkinson disease 1, autosomal dominant |
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parkinson disease 4, autosomal dominant |
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parkinson disease 15, autosomal recessive early-onset |
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hereditary late-onset parkinson disease |
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