• Gene id: 245928

Gene Summary

• Gene Symbol: DEFB114   Gene   UCSC   Ensembl
• Aliases: DEFB-14, DEFB14
• Gene name: defensin beta 114
• Alternate names: beta-defensin 114, beta-defensin 14, defensin, beta 14,
• Gene location: 6p12.3 (49964163: 49960248)     Exons: 1     NC_000006.12
• Gene summary(Entrez): Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensi
• OMIM: 615243

Protein Summary

• Protein general information: Q30KQ6  
  • Name: Beta defensin 114 (Beta defensin 14) (DEFB 14) (Defensin, beta 114)
  • Length: 69  
  • Mass: 8318
  • Tissue specificity: Expressed in epididymis, predominantly in the caput (at protein level). {ECO
• Sequence:

  MRIFYYLHFLCYVTFILPATCTLVNADRCTKRYGRCKRDCLESEKQIDICSLPRKICCTEKLYEEDDMF

• Structural information:
  • Interpro: IPR025933  
  • STRING: ENSP00000312702
• Other Databases: GeneCards:  DEFB114  Malacards:  DEFB114

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031665	negative regulation of lipopolysaccharide-mediated signaling pathway	IDA	biological process
GO:0001530	lipopolysaccharide binding	IDA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0045087	innate immune response	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0006952	defense response	IEA	biological process
GO:0042742	defense response to bacterium	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:1904468	negative regulation of tumor necrosis factor secretion	IMP	biological process
GO:0043407	negative regulation of MAP kinase activity	IMP	biological process
GO:0050829	defense response to Gram-negative bacterium	IMP	biological process
GO:0050729	positive regulation of inflammatory response	IMP	biological process
GO:0045087	innate immune response	IMP	biological process
GO:0061760	antifungal innate immune response	IMP	biological process
GO:0050830	defense response to Gram-positive bacterium	IMP	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)