• Gene id: 221336

Gene Summary

• Gene Symbol: BEND6   Gene   UCSC   Ensembl
• Aliases: C6orf65
• Gene name: BEN domain containing 6
• Alternate names: BEN domain-containing protein 6,
• Gene location: 6p12.1 (56954974: 57027651)     Exons: 12     NC_000006.12
• OMIM: 615610

Protein Summary

• Protein general information: Q5SZJ8  
  • Name: BEN domain containing protein 6
  • Length: 279  
  • Mass: 31222
• Sequence:

  MQKIVQTDEITNTQAFRKGKRKRTETMDSENANSDMDKGQRDPYSGNAFLPGESSSEDEEPLAELSKEELCAKIK
  SLKEKLTNTRKENSRLRQSLVMLQVLPQAVTQFEELVGMAEALLKGGGTMSTSASTLWRATNNSSPDSFASTCSN
  SNSNSSSPVSLKPEEEHQTDEKQFQIEKWQIARCNKSKPQKFINDLMQVLYTNEYMATHSLTGAKSSTSRDKAVK
  PAMNQNEVQEIIGVTKQLFPNTDDVSIRRMIGQKLNNCTKKPNLSKNLNSQDIK

• Structural information:
  • Protein Domains: (171..27-)
    (/note="BEN-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00784"-)
  • Interpro: IPR018379  IPR037496  
  • Prosite: PS51457
  • STRING: ENSP00000359782
• Other Databases: GeneCards:  BEND6  Malacards:  BEND6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045666	positive regulation of neuron differentiation	IEA	biological process
GO:0045746	negative regulation of Notch signaling pathway	IEA	biological process
GO:0003714	transcription corepressor activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0007399	nervous system development	IEA	biological process
GO:0003714	transcription corepressor activity	IGI	molecular function
GO:0003682	chromatin binding	IEA	molecular function
GO:0045666	positive regulation of neuron differentiation	IEA	biological process
GO:0045746	negative regulation of Notch signaling pathway	IEA	biological process
GO:0003714	transcription corepressor activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:1903507	negative regulation of nucleic acid-templated transcription	IEA	biological process
GO:1903507	negative regulation of nucleic acid-templated transcription	IEA	biological process
GO:1903507	negative regulation of nucleic acid-templated transcription	IEA	biological process

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