• Gene id: 729991

Gene Summary

• Gene Symbol: BORCS8   Gene   UCSC   Ensembl
• Aliases: MEF2BNB
• Gene name: BLOC-1 related complex subunit 8
• Alternate names: BLOC-1-related complex subunit 8, MEF2B neighbor gene protein, protein MEF2BNB,
• Gene location: 19p13.11 (19192151: 19176905)     Exons: 6     NC_000019.10
• OMIM: 600390

Protein Summary

• Protein general information: Q96FH0  
  • Name: BLOC 1 related complex subunit 8 (MEF2B neighbor)
  • Length: 119  
  • Mass: 13403
• Sequence:

  MEEPEMQLKGKKVTDKFTESVYVLANEPSVALYRLQEHVRRSLPELAQHKADMQRWEEQSQGAIYTVEYACSAVK
  NLVDSSVYFRSVEGLLKQAISIRDHMNASAQGHSPEEPPPPSSA

• Structural information:
  • Interpro: IPR019320  
  • STRING: ENSP00000425864
• Other Databases: GeneCards:  BORCS8  Malacards:  BORCS8

Gene ontology

GO accession	Term name	Evidence code	Go category
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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0007507	heart development	IEP	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

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