Property Summary

NCBI Gene PubMed Count 14
PubMed Score 21.42
PubTator Score 10.09

Knowledge Summary


No data available


  Disease Sources (2)

Disease Target Count P-value
diabetes mellitus 1663 0.00104821351867176
Disease Target Count Z-score Confidence
Male infertility 170 3.14 1.6

Gene RIF (8)

25721098 Data indicate a significant contribution of the frame-shift polymorphism of defensin beta 126 (DEFB126) rs11467497 to male infertility.
23229569 These results demonstrate that the DEFB126 core peptide has critical functions in parallel to its C-terminal tail by showing LPS-binding activity, anti-inflammatory effects and intracellular regulatory function. In addition, DEFB126 displays antimicrobial activity against E. coli, S. aureus, and C. elegans.
22710670 This review shows how DEFB126 is critical for efficient transport of sperm in the female reproductive tract, preventing their recognition by the female immune system.
21775668 DEFB126 genotype and lectin binding were correlated with sperm performance in the penetration assays.
20438785 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20406964 Observational study of gene-disease association. (HuGE Navigator)
19423540 Observational study of gene-disease association. (HuGE Navigator)
19423540 Analyses restricted to glioblastoma (n = 254) yielded significant associations for the SELP, DEFB126/127, SERPINI1, and LY96 genetic regions.

AA Sequence

FCVQTKTTRISTVTATTATTTLMMTTASMSSMAPTPVSPTG                                  71 - 111

Text Mined References (17)

PMID Year Title
26832966 2016 Lectin binding of human sperm associates with DEFB126 mutation and serves as a potential biomarker for subfertility.
25721098 2015 Another functional frame-shift polymorphism of DEFB126 (rs11467497) associated with male infertility.
23229569 2013 Human beta-defensin DEFB126 is capable of inhibiting LPS-mediated inflammation.
22710670 2012 Multifunctional glycoprotein DEFB126--a curious story of defensin-clad spermatozoa.
21775668 2011 A common mutation in the defensin DEFB126 causes impaired sperm function and subfertility.
20438785 2010 Polymorphisms in innate immunity genes and risk of childhood leukemia.
20406964 2010 Risk of meningioma and common variation in genes related to innate immunity.
19423540 2009 Common variation in genes related to innate immunity and risk of adult glioma.
19373462 2009 Soluble fusion expression and characterization of bioactive human beta-defensin 26 and 27.
17928628 2008 Alterations in gene expression in the caput epididymides of nonobstructive azoospermic men.