• Gene id: 9694

Gene Summary

• Gene Symbol: EMC2   Gene   UCSC   Ensembl
• Aliases: KIAA0103, TTC35
• Gene name: ER membrane protein complex subunit 2
• Alternate names: ER membrane protein complex subunit 2, TPR repeat protein 35, tetratricopeptide repeat domain 35, tetratricopeptide repeat protein 35,
• Gene location: 8q23.1 (108443582: 108489195)     Exons: 13     NC_000008.11
• OMIM: 607722

Protein Summary

• Protein general information: Q15006  
  • Name: ER membrane protein complex subunit 2 (Tetratricopeptide repeat protein 35) (TPR repeat protein 35)
  • Length: 297  
  • Mass: 34834
• Sequence:

  MAKVSELYDVTWEEMRDKMRKWREENSRNSEQIVEVGEELINEYASKLGDDIWIIYEQVMIAALDYGRDDLALFC
  LQELRRQFPGSHRVKRLTGMRFEAMERYDDAIQLYDRILQEDPTNTAARKRKIAIRKAQGKNVEAIRELNEYLEQ
  FVGDQEAWHELAELYINEHDYAKAAFCLEELMMTNPHNHLYCQQYAEVKYTQGGLENLELSRKYFAQALKLNNRN
  MRALFGLYMSASHIASNPKASAKTKKDNMKYASWAASQINRAYQFAGRSKKETKYSLKAVEDMLETLQITQS

• Structural information:
  • Interpro: IPR039856  IPR013026  IPR011990  IPR019734  
  • Prosite: PS50005 PS50293
  • STRING: ENSP00000220853
• Other Databases: GeneCards:  EMC2  Malacards:  EMC2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0072546	ER membrane protein complex	IBA	cellular component
GO:0072546	ER membrane protein complex	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)