Endometriosis Knowledgebase

Search Result

Gene id

6623

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

SNCG Gene UCSC Ensembl

Aliases

BCSG1, SR

Gene name

synuclein gamma

Alternate names

gamma-synuclein, breast cancer-specific gene 1 protein, persyn, synoretin, synuclein, gamma (breast cancer-specific protein 1),

Gene location

10q23.2 (86958530: 86963259) Exons: 5 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 2010]

OMIM

602998

Protein Summary

Protein general information

O76070

Name: Gamma synuclein (Breast cancer specific gene 1 protein) (Persyn) (Synoretin) (SR)

Length: 127 Mass: 13,331

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
Pfam:	PF01387
STRING:	ENSP00000361087;

Other Databases

GeneCards: SNCG; Malacards: SNCG

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular_function
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005815	microtubule organizing ce nter	IEA	cellular_component
GO:0005819	spindle	IEA	cellular_component
GO:0007268	chemical synaptic transmi ssion	IEA	biological_process
GO:0008344	adult locomotory behavior	IEA	biological_process
GO:0009306	protein secretion	IEA	biological_process
GO:0014059	regulation of dopamine se cretion	IEA	biological_process
GO:0030424	axon	IEA	cellular_component
GO:0043025	neuronal cell body	IEA	cellular_component
GO:0046928	regulation of neurotransm itter secretion	IEA	biological_process
GO:0048471	perinuclear region of cyt oplasm	IEA	cellular_component
GO:0050808	synapse organization	IEA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0005515	protein binding	IPI	molecular_function
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005815	microtubule organizing ce nter	IEA	cellular_component
GO:0005819	spindle	IEA	cellular_component
GO:0005856	cytoskeleton	IEA	cellular_component
GO:0007268	chemical synaptic transmi ssion	IEA	biological_process
GO:0008344	adult locomotory behavior	IEA	biological_process
GO:0009306	protein secretion	IEA	biological_process
GO:0014059	regulation of dopamine se cretion	IEA	biological_process
GO:0030424	axon	IEA	cellular_component
GO:0043025	neuronal cell body	IEA	cellular_component
GO:0046928	regulation of neurotransm itter secretion	IEA	biological_process
GO:0048471	perinuclear region of cyt oplasm	IEA	cellular_component
GO:0050808	synapse organization	IEA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0005515	protein binding	IPI	molecular_function
GO:0005737	cytoplasm	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component

Diseases

Associated diseases	References
Endometriosis (ovarian)	PMID: 18849443
Alzheimer's disease	PMID: 17373700
Ovarian endometriosis	INFBASE18849443
Ovarian endometriosis	PMID: 18849443
Parkinson's disease	PMID: 14556204

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
18849443	Endometrio sis (ovari an)					CYP1A1 CYP1B1 gamma-syn ER alpha ER beta BCL-2	Show abstract