• Gene id: 8910

Gene Summary

• Gene Symbol: SGCE   Gene   UCSC   Ensembl
• Aliases: DYT11, ESG, epsilon-SG
• Gene name: sarcoglycan epsilon
• Alternate names: epsilon-sarcoglycan, dystonia 11, myoclonic,
• Gene location: 7q21.3 (94656204: 94584979)     Exons: 16     NC_000007.14
• Gene summary(Entrez): This gene encodes the epsilon member of the sarcoglycan family. Sarcoglycans are transmembrane proteins that are components of the dystrophin-glycoprotein complex, which link the actin cytoskeleton to the extracellular matrix. Unlike other family members
• OMIM: 604149

Protein Summary

• Protein general information: O43556  
  • Name: Epsilon sarcoglycan (Epsilon SG)
  • Length: 437  
  • Mass: 49851
  • Tissue specificity: Ubiquitous.
• Sequence:

  MQLPRWWELGDPCAWTGQGRGTRRMSPATTGTFLLTVYSIFSKVHSDRNVYPSAGVLFVHVLEREYFKGEFPPYP
  KPGEISNDPITFNTNLMGYPDRPGWLRYIQRTPYSDGVLYGSPTAENVGKPTIIEITAYNRRTFETARHNLIINI
  MSAEDFPLPYQAEFFIKNMNVEEMLASEVLGDFLGAVKNVWQPERLNAINITSALDRGGRVPLPINDLKEGVYVM
  VGADVPFSSCLREVENPQNQLRCSQEMEPVITCDKKFRTQFYIDWCKISLVDKTKQVSTYQEVIRGEGILPDGGE
  YKPPSDSLKSRDYYTDFLITLAVPSAVALVLFLILAYIMCCRREGVEKRNMQTPDIQLVHHSAIQKSTKELRDMS
  KNREIAWPLSTLPVFHPVTGEIIPPLHTDNYDSTNMPLMQTQQNLPHQTQIPQQQTTGKWYP

• Structural information:
  • Interpro: IPR006644  IPR008908  IPR030775  
  • STRING: ENSP00000398930
• Other Databases: GeneCards:  SGCE  Malacards:  SGCE

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016012	sarcoglycan complex	IBA	cellular component
GO:0005794	Golgi apparatus	ISS	cellular component
GO:0032590	dendrite membrane	ISS	cellular component
GO:0005886	plasma membrane	ISS	cellular component
GO:0016012	sarcoglycan complex	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0007160	cell-matrix adhesion	TAS	biological process
GO:0007517	muscle organ development	TAS	biological process
GO:0016012	sarcoglycan complex	TAS	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0042383	sarcolemma	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0016010	dystrophin-associated glycoprotein complex	IDA	cellular component

Diseases

Associated diseases	References
Primary dystonia	KEGG:H00831
Primary dystonia	KEGG:H00831
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881