• Gene id: 140881

Gene Summary

• Gene Symbol: DEFB129   Gene   UCSC   Ensembl
• Aliases: C20orf87, DEFB-29, DEFB29, bA530N10.3, hBD-29
• Gene name: defensin beta 129
• Alternate names: beta-defensin 129, beta-defensin 29,
• Gene location: 20p13 (227257: 229885)     Exons: 2     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
• OMIM: 0

Protein Summary

• Protein general information: Q9H1M3  
  • Name: Beta defensin 129 (Beta defensin 29) (DEFB 29) (Defensin, beta 129)
  • Length: 183  
  • Mass: 20,299
• Sequence:

  MKLLFPIFASLMLQYQVNTEFIGLRRCLMGLGRCRDHCNVDEKEIQKCKMKKCCVGPKVVKLIKNYLQYGTPNVL
  NEDVQEMLKPAKNSSAVIQRKHILSVLPQIKSTSFFANTNFVIIPNATPMNSATISTMTPGQITYTATSTKSNTK
  ESRDSATASPPPAPPPPNILPTPSLELEEAEEQ

• Structural information:
  • Interpro: IPR020520  IPR025933  
  • STRING: ENSP00000246105
• Other Databases: GeneCards:  DEFB129  Malacards:  DEFB129

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005576	extracellular region	IEA	cellular component
GO:0009986	cell surface	IBA	cellular component
GO:0042742	defense response to bacterium	IBA	biological process
GO:0045087	innate immune response	IBA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0006952	defense response	IEA	biological process
GO:0006952	defense response	IEA	biological process
GO:0009986	cell surface	IBA	cellular component
GO:0042742	defense response to bacterium	IBA	biological process
GO:0042742	defense response to bacterium	IEA	biological process
GO:0045087	innate immune response	IEA	biological process
GO:0045087	innate immune response	IBA	biological process
GO:0009986	cell surface	IBA	cellular component
GO:0042742	defense response to bacterium	IBA	biological process
GO:0045087	innate immune response	IBA	biological process

Diseases

Associated diseases	References
Male factor infertility	MIK: 17928628
Azoospermia	MIK: 17928628
Azoospermia	MIK: 17928628

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17928628	Azoospermia				Male infertility	CRISP1 SPINLW1 FAM12B DEFB129 CFTR AQP5 KCNK4 KCNK17 SLC6A20 SLC13A3 DEFB126 and DEFB106A