• Gene id: 79003

Gene Summary

• Gene Symbol: MIS12   Gene   UCSC   Ensembl
• Aliases: 2510025F08Rik, KNTC2AP, MTW1, hMis12
• Gene name: MIS12 kinetochore complex component
• Alternate names: protein MIS12 homolog, MIS12 homolog, MIS12, MIND kinetochore complex component, homolog, homolog of yeast Mis12,
• Gene location: 17p13.2 (13487636: 13357829)     Exons: 7     NC_000006.12
• OMIM: 609178

Protein Summary

• Protein general information: Q9H081  
  • Name: Protein MIS12 homolog
  • Length: 205  
  • Mass: 24140
• Sequence:

  MSVDPMTYEAQFFGFTPQTCMLRIYIAFQDYLFEVMQAVEQVILKKLDGIPDCDISPVQIRKCTEKFLCFMKGHF
  DNLFSKMEQLFLQLILRIPSNILLPEDKCKETPYSEEDFQHLQKEIEQLQEKYKTELCTKQALLAELEEQKIVQA
  KLKQTLTFFDELHNVGRDHGTSDFRESLVSLVQNSRKLQNIRDNVEKESKRLKIS

• Structural information:
  • Interpro: IPR008685  
  • PDB: 5LSJ 5LSK
  • PDBsum: 5LSJ 5LSK
  • STRING: ENSP00000484532
• Other Databases: GeneCards:  MIS12  Malacards:  MIS12

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000070	mitotic sister chromatid segregation	IBA	biological process
GO:0051382	kinetochore assembly	IBA	biological process
GO:0000818	nuclear MIS12/MIND complex	IBA	cellular component
GO:0034501	protein localization to kinetochore	IBA	biological process
GO:0051315	attachment of mitotic spindle microtubules to kinetochore	IMP	biological process
GO:0000278	mitotic cell cycle	IEA	biological process
GO:0000775	chromosome, centromeric region	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0051301	cell division	IEA	biological process
GO:0000776	kinetochore	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0000775	chromosome, centromeric region	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0007059	chromosome segregation	IEA	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005634	nucleus	IDA	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:0000777	condensed chromosome kinetochore	IDA	cellular component
GO:0000777	condensed chromosome kinetochore	IEA	cellular component
GO:0000444	MIS12/MIND type complex	IDA	cellular component
GO:0051382	kinetochore assembly	IDA	biological process
GO:0007059	chromosome segregation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007059	chromosome segregation	IMP	biological process
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

Diseases

Associated diseases	References
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)