DEFB126 (defensin beta 126)

2014-11-01  

Identity

HGNC
LOCATION
20p13
LOCUSID
ALIAS
C20orf8,DEFB-26,DEFB26,HBD26,bA530N10.1,hBD-26

Other Information

Locus ID:

NCBI: 81623
HGNC: 15900
Ensembl: ENSG00000125788

Variants:

dbSNP: 81623
ClinVar: 81623
TCGA: ENSG00000125788
COSMIC: DEFB126

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000125788ENST00000382398Q9BYW3
ENSG00000125788ENST00000382398A0A384MDP8

Expression (GTEx)

0
1

Pathways

PathwaySourceExternal ID
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
DefensinsREACTOMER-HSA-1461973
Beta defensinsREACTOMER-HSA-1461957
Antimicrobial peptidesREACTOMER-HSA-6803157

References

Pubmed IDYearTitleCitations
217756682011A common mutation in the defensin DEFB126 causes impaired sperm function and subfertility.37
227106702012Multifunctional glycoprotein DEFB126--a curious story of defensin-clad spermatozoa.21
194235402009Common variation in genes related to innate immunity and risk of adult glioma.19
194235402009Common variation in genes related to innate immunity and risk of adult glioma.19
204069642010Risk of meningioma and common variation in genes related to innate immunity.12
204387852010Polymorphisms in innate immunity genes and risk of childhood leukemia.5
232295692013Human beta-defensin DEFB126 is capable of inhibiting LPS-mediated inflammation.4
257210982015Another functional frame-shift polymorphism of DEFB126 (rs11467497) associated with male infertility.0
305290032019Influence of chewing on expression level of human beta-defensin 2 and secretory immunoglobulin A in the epithelium.0

Citation

Dessen P

DEFB126 (defensin beta 126)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62412/defb126