• Gene id: 55719

Gene Summary

• Gene Symbol: SLF2   Gene   UCSC   Ensembl
• Aliases: C10orf6, FAM178A
• Gene name: SMC5-SMC6 complex localization factor 2
• Alternate names: SMC5-SMC6 complex localization factor protein 2, family with sequence similarity 178, member A, protein FAM178A, smc5/6 localization factor 1,
• Gene location: 10q24.31 (100909415: 100965133)     Exons: 21     NC_000010.11
• OMIM: 610348

Protein Summary

• Protein general information: Q8IX21  
  • Name: SMC5 SMC6 complex localization factor protein 2 (Smc5/6 localization factor 1)
  • Length: 1173  
  • Mass: 131873
  • Tissue specificity: Widely expressed (PubMed
• Sequence:

  MTRRCMPARPGFPSSPAPGSSPPRCHLRPGSTAHAAAGKRTESPGDRKQSIIDFFKPASKQDRHMLDSPQKSNIK
  YGGSRLSITGTEQFERKLSSPKESKPKRVPPEKSPIIEAFMKGVKEHHEDHGIHESRRPCLSLASKYLAKGTNIY
  VPSSYHLPKEMKSLKKKHRSPERRKSLFIHENNEKNDRDRGKTNADSKKQTTVAEADIFNNSSRSLSSRSSLSRH
  HPEESPLGAKFQLSLASYCRERELKRLRKEQMEQRINSENSFSEASSLSLKSSIERKYKPRQEQRKQNDIIPGKN
  NLSNVENGHLSRKRSSSDSWEPTSAGSKQNKFPEKRKRNSVDSDLKSTRESMIPKARESFLEKRPDGPHQKEKFI
  KHIALKTPGDVLRLEDISKEPSDETDGSSAGLAPSNSGNSGHHSTRNSDQIQVAGTKETKMQKPHLPLSQEKSAI
  KKASNLQKNKTASSTTKEKETKLPLLSRVPSAGSSLVPLNAKNCALPVSKKDKERSSSKECSGHSTESTKHKEHK
  AKTNKADSNVSSGKISGGPLRSEYGTPTKSPPAALEVVPCIPSPAAPSDKAPSEGESSGNSNAGSSALKRKLRGD
  FDSDEESLGYNLDSDEEEETLKSLEEIMALNFNQTPAATGKPPALSKGLRSQSSDYTGHVHPGTYTNTLERLVKE
  MEDTQRLDELQKQLQEDIRQGRGIKSPIRIGEEDSTDDEDGLLEEHKEFLKKFSVTIDAIPDHHPGEEIFNFLNS
  GKIFNQYTLDLRDSGFIGQSAVEKLILKSGKTDQIFLTTQGFLTSAYHYVQCPVPVLKWLFRMMSVHTDCIVSVQ
  ILSTLMEITIRNDTFSDSPVWPWIPSLSDVAAVFFNMGIDFRSLFPLENLQPDFNEDYLVSETQTTSRGKESEDS
  SYKPIFSTLPETNILNVVKFLGLCTSIHPEGYQDREIMLLILMLFKMSLEKQLKQIPLVDFQSLLINLMKNIRDW
  NTKVPELCLGINELSSHPHNLLWLVQLVPNWTSRGRQLRQCLSLVIISKLLDEKHEDVPNASNLQVSVLHRYLVQ
  MKPSDLLKKMVLKKKAEQPDGIIDDSLHLELEKQAYYLTYILLHLVGEVSCSHSFSSGQRKHFVLLCGALEKHVK
  CDIREDARLFYRTKVKDLVARIHGKWQEIIQNCRPTQGQLHDFWVPDS

• Structural information:
  • Interpro: IPR026161  
  • STRING: ENSP00000359292
• Other Databases: GeneCards:  SLF2  Malacards:  SLF2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IDA	cellular component
GO:0000785	chromatin	IDA	cellular component
GO:1990166	protein localization to site of double-strand break	IDA	biological process
GO:0035861	site of double-strand break	IDA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:2000781	positive regulation of double-strand break repair	IDA	biological process
GO:0031334	positive regulation of protein-containing complex assembly	IMP	biological process
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0034184	positive regulation of maintenance of mitotic sister chromatid cohesion	IMP	biological process
GO:0044877	protein-containing complex binding	IPI	molecular function
GO:0044877	protein-containing complex binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
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:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray