• Gene id: 6493

Gene Summary

• Gene Symbol: SIM2   Gene   UCSC   Ensembl
• Aliases: HMC13F06, HMC29C01, SIM, bHLHe15
• Gene name: SIM bHLH transcription factor 2
• Alternate names: single-minded homolog 2, class E basic helix-loop-helix protein 15, single-minded family bHLH transcription factor 2, transcription factor SIM2,
• Gene location: 21q22.13 (36699114: 36750218)     Exons: 12     NC_000021.9
• Gene summary(Entrez): This gene represents a homolog of the Drosophila single-minded (sim) gene, which encodes a transcription factor that is a master regulator of neurogenesis. The encoded protein is ubiquitinated by RING-IBR-RING-type E3 ubiquitin ligases, including the park

Protein Summary

• Protein general information: Q14190  
  • Name: Single minded homolog 2 (Class E basic helix loop helix protein 15) (bHLHe15)
  • Length: 667  
  • Mass: 73219
• Sequence:

  MKEKSKNAAKTRREKENGEFYELAKLLPLPSAITSQLDKASIIRLTTSYLKMRAVFPEGLGDAWGQPSRAGPLDG
  VAKELGSHLLQTLDGFVFVVASDGKIMYISETASVHLGLSQVELTGNSIYEYIHPSDHDEMTAVLTAHQPLHHHL
  LQEYEIERSFFLRMKCVLAKRNAGLTCSGYKVIHCSGYLKIRQYMLDMSLYDSCYQIVGLVAVGQSLPPSAITEI
  KLYSNMFMFRASLDLKLIFLDSRVTEVTGYEPQDLIEKTLYHHVHGCDVFHLRYAHHLLLVKGQVTTKYYRLLSK
  RGGWVWVQSYATVVHNSRSSRPHCIVSVNYVLTEIEYKELQLSLEQVSTAKSQDSWRTALSTSQETRKLVKPKNT
  KMKTKLRTNPYPPQQYSSFQMDKLECGQLGNWRASPPASAAAPPELQPHSESSDLLYTPSYSLPFSYHYGHFPLD
  SHVFSSKKPMLPAKFGQPQGSPCEVARFFLSTLPASGECQWHYANPLVPSSSSPAKNPPEPPANTARHSLVPSYE
  APAAAVRRFGEDTAPPSFPSCGHYREEPALGPAKAARQAARDGARLALARAAPECCAPPTPEAPGAPAQLPFVLL
  NYHRVLARRGPLGGAAPAASGLACAPGGPEAATGALRLRHPSPAATSPPGAPLPHYLGASVIITNGR

• Structural information:
  • Protein Domains: (1..5-)
    (/note="bHLH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00981-)
    (77..14-)
    (/note="PAS-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00140-)
    (218..28-)
    (/note="PAS-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00140-)
    (2-)
  • Interpro: IPR011598  IPR036638  IPR001610  IPR000014  IPR035965   IPR013767  IPR013655  IPR010578  
  • Prosite: PS50888 PS50112 PS51302
  • CDD: cd00083 cd00130
  • STRING: ENSP00000290399
• Other Databases: GeneCards:  SIM2  Malacards:  SIM2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0003677	DNA binding	TAS	molecular function
GO:0003700	DNA-binding transcription factor activity	TAS	molecular function
GO:0003700	DNA-binding transcription factor activity	TAS	molecular function
GO:0007399	nervous system development	TAS	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0009880	embryonic pattern specification	IEA	biological process
GO:0030324	lung development	IEA	biological process
GO:0046982	protein heterodimerization activity	IEA	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

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
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray