• Gene id: 57462

Gene Summary

• Gene Symbol: MYORG   Gene   UCSC   Ensembl
• Aliases: IBGC7, KIAA1161, NET37
• Gene name: myogenesis regulating glycosidase (putative)
• Alternate names: myogenesis-regulating glycosidase,
• Gene location: 9p13.3 (34376951: 34366148)     Exons: 3     NC_000009.12
• OMIM: 615689

Protein Summary

• Protein general information: Q6NSJ0  
  • Name: Myogenesis regulating glycosidase (EC 3.2.1. ) (Uncharacterized family 31 glucosidase KIAA1161)
  • Length: 714  
  • Mass: 81087
• Sequence:

  MLQNPQEKSQAYPRRRRPGCYAYRQNPEAIAAAAMYTFLPDNFSPAKPKPSKDLKPLLGSAVLGLLLVLAAVVAW
  CYYSVSLRKAERLRAELLDLKAGGFSIRNQKGEQVFRLAFRSGALDLDSCSRDGALLGCSLTADGLPLHFFIQTV
  RPKDTVMCYRVRWEEAAPGRAVEHAMFLGDAAAHWYGGAEMRTQHWPIRLDGQQEPQPFVTSDVYSSDAAFGGIL
  ERYWLSSRAAAIKVNDSVPFHLGWNSTERSLRLQARYHDTPYKPPAGRAAAPELSYRVCVGSDVTSIHKYMVRRY
  FNKPSRVPAPEAFRDPIWSTWALYGRAVDQDKVLRFAQQIRLHHFNSSHLEIDDMYTPAYGDFDFDEVKFPNASD
  MFRRLRDAGFRVTLWVHPFVNYNSSRFGEGVERELFVREPTGRLPALVRWWNGIGAVLDFTHPKARDWFQGHLRR
  LRSRYSVASFKFDAGEVSYLPRDFSTYRPLPDPSVWSRRYTEMALPFFSLAEVRVGYQSQNISCFFRLVDRDSVW
  GYDLGLRSLIPAVLTVSMLGYPFILPDMVGGNAVPQRTAGGDVPERELYIRWLEVAAFMPAMQFSIPPWRYDAEV
  VAIAQKFAALRASLVAPLLLELAGEVTDTGDPIVRPLWWIAPGDETAHRIDSQFLIGDTLLVAPVLEPGKQERDV
  YLPAGKWRSYKGELFDKTPVLLTDYPVDLDEIAYFTWAS

• Structural information:
  • Interpro: IPR000322  IPR017853  
  • STRING: ENSP00000297625
• Other Databases: GeneCards:  MYORG  Malacards:  MYORG

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0048741	skeletal muscle fiber development	IBA	biological process
GO:0048741	skeletal muscle fiber development	ISS	biological process
GO:0048741	skeletal muscle fiber development	IMP	biological process
GO:0005789	endoplasmic reticulum membrane	ISS	cellular component
GO:0031965	nuclear membrane	ISS	cellular component
GO:0051897	positive regulation of protein kinase B signaling	ISS	biological process
GO:0043568	positive regulation of insulin-like growth factor receptor signaling pathway	ISS	biological process
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0004553	hydrolase activity, hydrolyzing O-glycosyl compounds	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0008152	metabolic process	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016798	hydrolase activity, acting on glycosyl bonds	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0048741	skeletal muscle fiber development	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0051897	positive regulation of protein kinase B signaling	IEA	biological process
GO:0043568	positive regulation of insulin-like growth factor receptor signaling pathway	IEA	biological process
GO:0031965	nuclear membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0031965	nuclear membrane	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray