• Gene id: 6623

Gene Summary

• Gene Symbol: SNCG   Gene   UCSC   Ensembl
• Aliases: BCSG1, SR
• Gene name: synuclein gamma
• Alternate names: gamma-synuclein, -synuclein, E pound-synuclein, breast cancer-specific gene 1 protein, persyn, synoretin, synuclein, gamma (breast cancer-specific protein 1),
• Gene location: 10q23.2 (86955758: 86963259)     Exons: 7     NC_000010.11
• Gene summary(Entrez): This gene encodes a member of the synuclein family of proteins which are believed to be involved in the pathogenesis of neurodegenerative diseases. Mutations in this gene have also been associated with breast tumor development. [provided by RefSeq, Jan 20
• OMIM: 611231

Protein Summary

• Protein general information: O76070  
  • Name: Gamma synuclein (Breast cancer specific gene 1 protein) (Persyn) (Synoretin) (SR)
  • Length: 127  
  • Mass: 13331
  • Tissue specificity: Highly expressed in brain, particularly in the substantia nigra. Also expressed in the corpus callosum, heart, skeletal muscle, ovary, testis, colon and spleen. Weak expression in pancreas, kidney and lung.
• Sequence:

  MDVFKKGFSIAKEGVVGAVEKTKQGVTEAAEKTKEGVMYVGAKTKENVVQSVTSVAEKTKEQANAVSEAVVSSVN
  TVATKTVEEAENIAVTSGVVRKEDLRPSAPQQEGEASKEKEEVAEEAQSGGD

• Structural information:
  • Interpro: IPR001058  IPR002462  
  • STRING: ENSP00000361087
• Other Databases: GeneCards:  SNCG  Malacards:  SNCG

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0007268	chemical synaptic transmission	IEA	biological process
GO:0008344	adult locomotory behavior	IEA	biological process
GO:0014059	regulation of dopamine secretion	IEA	biological process
GO:0030424	axon	IEA	cellular component
GO:0046928	regulation of neurotransmitter secretion	IEA	biological process
GO:0050808	synapse organization	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0009306	protein secretion	IEA	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005819	spindle	IEA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Alzheimer's disease	PMID:18577885
Lewy body dementia	PMID:10557341
Lewy body dementia	PMID:18577885
Lewy body dementia	PMID:20697047
Parkinson's disease	PMID:10557341
Breast cancer	PMID:16821081
Glaucoma	PMID:18728752
pancreatic cancer	PMID:15221989
pantothenate kinase-associated neurodegeneration	PMID:10934140
retinoblastoma	PMID:18728752
Vascular dementia	PMID:18577885
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R