• Gene id: 140850

Gene Summary

• Gene Symbol: DEFB127   Gene   UCSC   Ensembl
• Aliases: C20orf73, DEF-27, DEFB-27, DEFB27, bA530N10.2, hBD-27
• Gene name: defensin beta 127
• Alternate names: beta-defensin 127, beta-defensin 27,
• Gene location: 20p13 (157453: 159162)     Exons: 35     NC_000020.11
• Gene summary(Entrez): Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin gene

Protein Summary

• Protein general information: Q9H1M4  
  • Name: Beta defensin 127 (Beta defensin 27) (DEFB 27) (Defensin, beta 127)
  • Length: 99  
  • Mass: 11343
• Sequence:

  MGLFMIIAILLFQKPTVTEQLKKCWNNYVQGHCRKICRVNEVPEALCENGRYCCLNIKELEACKKITKPPRPKPA
  TLALTLQDYVTIIENFPSLKTQST

• Structural information:
  • Interpro: IPR025933  
  • STRING: ENSP00000371825
• Other Databases: GeneCards:  DEFB127  Malacards:  DEFB127

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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0061844	antimicrobial humoral immune response mediated by antimicrobial peptide	IDA	biological process
GO:0050829	defense response to Gram-negative bacterium	IDA	biological process
GO:0005575	cellular_component	ND	cellular component
GO:0045087	innate immune response	TAS	biological process
GO:0042742	defense response to bacterium	TAS	biological process

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)