• Gene id: 23383

Gene Summary

• Gene Symbol: MAU2   Gene   UCSC   Ensembl
• Aliases: KIAA0892, MAU2L, SCC4, mau-2
• Gene name: MAU2 sister chromatid cohesion factor
• Alternate names: MAU2 chromatid cohesion factor homolog, cohesin loading complex subunit SCC4 homolog, protein MAU-2, sister chromatid cohesion 4,
• Gene location: 19p13.11 (19320606: 19358753)     Exons: 9     NC_000019.10
• OMIM: 614560

Protein Summary

• Protein general information: Q9Y6X3  
  • Name: MAU2 chromatid cohesion factor homolog (MAU 2) (Cohesin loading complex subunit SCC4 homolog)
  • Length: 613  
  • Mass: 69082
• Sequence:

  MAAQAAAAAQAAAAQAAQAEAADSWYLALLGFAEHFRTSSPPKIRLCVHCLQAVFPFKPPQRIEARTHLQLGSVL
  YHHTKNSEQARSHLEKAWLISQQIPQFEDVKFEAASLLSELYCQENSVDAAKPLLRKAIQISQQTPYWHCRLLFQ
  LAQLHTLEKDLVSACDLLGVGAEYARVVGSEYTRALFLLSKGMLLLMERKLQEVHPLLTLCGQIVENWQGNPIQK
  ESLRVFFLVLQVTHYLDAGQVKSVKPCLKQLQQCIQTISTLHDDEILPSNPADLFHWLPKEHMCVLVYLVTVMHS
  MQAGYLEKAQKYTDKALMQLEKLKMLDCSPILSSFQVILLEHIIMCRLVTGHKATALQEISQVCQLCQQSPRLFS
  NHAAQLHTLLGLYCVSVNCMDNAEAQFTTALRLTNHQELWAFIVTNLASVYIREGNRHQEVLYSLLERINPDHSF
  PVSSHCLRAAAFYVRGLFSFFQGRYNEAKRFLRETLKMSNAEDLNRLTACSLVLLGHIFYVLGNHRESNNMVVPA
  MQLASKIPDMSVQLWSSALLRDLNKACGNAMDAHEAAQMHQNFSQQLLQDHIEACSLPEHNLITWTDGPPPVQFQ
  AQNGPNTSLASLL

• Structural information:
  • Interpro: IPR019440  IPR011990  IPR019734  
  • DIP: 29196
  • STRING: ENSP00000262815
• Other Databases: GeneCards:  MAU2  Malacards:  MAU2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0034088	maintenance of mitotic sister chromatid cohesion	IBA	biological process
GO:0003690	double-stranded DNA binding	IBA	molecular function
GO:0032116	SMC loading complex	IBA	cellular component
GO:0000785	chromatin	IBA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0032116	SMC loading complex	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0000785	chromatin	IDA	cellular component
GO:0071921	cohesin loading	IDA	biological process
GO:0090694	Scc2-Scc4 cohesin loading complex	IDA	cellular component
GO:0034088	maintenance of mitotic sister chromatid cohesion	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:0007064	mitotic sister chromatid cohesion	IEA	biological process
GO:0051301	cell division	IEA	biological process
GO:0005694	chromosome	IEA	cellular component
GO:0007059	chromosome segregation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005654	nucleoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0047485	protein N-terminus binding	IPI	molecular function
GO:0034088	maintenance of mitotic sister chromatid cohesion	IMP	biological process
GO:0032116	SMC loading complex	IMP	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq