• Gene id: 222389

Gene Summary

• Gene Symbol: BEND7   Gene   UCSC   Ensembl
• Aliases: C10orf30
• Gene name: BEN domain containing 7
• Alternate names: BEN domain-containing protein 7,
• Gene location: 10p13 (13529013: 13438480)     Exons: 18     NC_000010.11
• OMIM: 0

Protein Summary

• Protein general information: Q8N7W2  
  • Name: BEN domain containing protein 7
  • Length: 519  
  • Mass: 57549
• Sequence:

  MEFSERKRSRKSQSFKLVSRDYHHEVYKIPEFSNDVNGEAKETQPIFLGDESMEIKKQITGMRRLLNDSTGRIYQ
  RVGKEGEKLKEEPQDLDLVWPPRLNSSAEAPQSLHPSSRGVWNELPPQSGQFSGQYGTRSRTFQSQPHPTTSSNG
  ELPVVNSSAGSNCCTCNCQSTLQAILQELKTMRKLMQIQAVGTQNRQQPPISLICSQRTAVSRKRNKKKKVPPKT
  VEPLTVKQKPSGSEMEKKSVVASELSALQAAEHTSPEESRVLGFGIVLESPSSDPEVQLAEGFDVFMPKSQLDSI
  LSNYTRSGSLLFRKLVCAFFDDKTLANSLPNGKRKRGLNDNRKGLDQNIVGAIKVFTEKYCTANHVDKLPGPRDW
  VQILQDQIKLARRRLKRGSEIADSDERLDGIALPPTGACGGPCTVLPGGSAAVTLVLQSSPQTMSQEKGQMAEPW
  EEQHLVLLNNLTRDRAETGALSQTSQDFKHHSFLITQVSATLHHQRGIRNFPTPGSAKSLTLHISCLSL

• Structural information:
  • Protein Domains: (287..39-)
    (/note="BEN-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00784"-)
  • Interpro: IPR018379  
  • Prosite: PS51457
  • STRING: ENSP00000345773
• Other Databases: GeneCards:  BEND7  Malacards:  BEND7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq