• Gene id: 245934

Gene Summary

• Gene Symbol: DEFB121   Gene   UCSC   Ensembl
• Aliases: DEFB21, ESC42RELC
• Gene name: defensin beta 121
• Alternate names: beta-defensin 121, beta-defensin 21, defensin, beta 21, epididymis secretory sperm binding protein,
• Gene location: 20q11.21 (31418521: 31404844)     Exons: 11     NC_000020.11
• Gene summary(Entrez): This gene encodes a member of the beta subfamily of defensins. Beta-defensins are antimicrobial peptides that protect tissues and organs from infection by a variety of microorganisms. This gene is found in a cluster with other beta-defensin genes on the l
• OMIM: 616075

Protein Summary

• Protein general information: Q5J5C9  
  • Name: Beta defensin 121 (Beta defensin 21) (DEFB 21) (Defensin, beta 121)
  • Length: 76  
  • Mass: 8456
  • Tissue specificity: Abundant expression in the male reproductive tract only. {ECO
• Sequence:

  MKLLLLLLTVTLLLAQVTPVMKCWGKSGRCRTTCKESEVYYILCKTEAKCCVDPKYVPVKPKLTDTNTSLESTSA
  V

• Structural information:
  • Interpro: IPR025933  
  • STRING: ENSP00000417128
• Other Databases: GeneCards:  DEFB121  Malacards:  DEFB121

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005576	extracellular region	IEA	cellular component
GO:0045087	innate immune response	IEA	biological process
GO:0006952	defense response	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0042742	defense response to bacterium	IEA	biological process
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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0003674	molecular_function	ND	molecular function

Diseases

Associated diseases	References
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)