• Gene id: 119032

Gene Summary

• Gene Symbol: BORCS7   Gene   UCSC   Ensembl
• Aliases: C10orf32
• Gene name: BLOC-1 related complex subunit 7
• Alternate names: BLOC-1-related complex subunit 7, UPF0693 protein C10orf32, diaskedin,
• Gene location: 10q24.32 (102854258: 102864960)     Exons: 5     NC_000010.11
• OMIM: 616600

Protein Summary

• Protein general information: Q96B45  
  • Name: BLOC 1 related complex subunit 7 (Diaskedin)
  • Length: 106  
  • Mass: 11695
• Sequence:

  MMATGTPESQARFGQSVKGLLTEKVTTCGTDVIALTKQVLKGSRSSELLGQAARNMVLQEDAILHSEDSLRKMAI
  ITTHLQYQQEAIQKNVEQSSDLQDQLNHLLK

• Structural information:
  • Interpro: IPR032143  
  • STRING: ENSP00000342331
• Other Databases: GeneCards:  BORCS7  Malacards:  BORCS7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0099078	BORC complex	IBA	cellular component
GO:0099078	BORC complex	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005765	lysosomal membrane	IEA	cellular component

Diseases

Associated diseases	References
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)