• Gene id: 79763

Gene Summary

• Gene Symbol: ISOC2   Gene   UCSC   Ensembl
• Gene name: isochorismatase domain containing 2
• Alternate names: isochorismatase domain-containing protein 2, isochorismatase domain-containing protein 2, mitochondrial,
• Gene location: 19q13.42 (55461641: 55452984)     Exons: 6     NC_000019.10

Protein Summary

• Protein general information: Q96AB3  
  • Name: Isochorismatase domain containing protein 2
  • Length: 205  
  • Mass: 22337
• Sequence:

  MAAARPSLGRVLPGSSVLFLCDMQEKFRHNIAYFPQIVSVAARMLKVARLLEVPVMLTEQYPQGLGPTVPELGTE
  GLRPLAKTCFSMVPALQQELDSRPQLRSVLLCGIEAQACILNTTLDLLDRGLQVHVVVDACSSRSQVDRLVALAR
  MRQSGAFLSTSEGLILQLVGDAVHPQFKEIQKLIKEPAPDSGLLGLFQGQNSLLH

• Structural information:
  • Interpro: IPR040318  IPR000868  IPR036380  
  • STRING: ENSP00000085068
• Other Databases: GeneCards:  ISOC2  Malacards:  ISOC2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0003824	catalytic activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0031648	protein destabilization	IMP	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

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