DEFB127 (defensin beta 127)

2014-11-01  

Identity

HGNC
DEFB127
LOCATION
20p13
LOCUSID
140850
ALIAS
C20orf73,DEF-27,DEFB-27,DEFB27,bA530N10.2,hBD-27

Other Information

Locus ID:

NCBI: 140850
HGNC: 16206
Ensembl: ENSG00000088782

Variants:

dbSNP: 140850
ClinVar: 140850
TCGA: ENSG00000088782
COSMIC: DEFB127

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000088782ENST00000382388Q9H1M4

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
320779192021Genome-wide association study on coronary artery disease in type 1 diabetes suggests beta-defensin 127 as a risk locus.7
320779192021Genome-wide association study on coronary artery disease in type 1 diabetes suggests beta-defensin 127 as a risk locus.7
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.37
204069642010Risk of meningioma and common variation in genes related to innate immunity.21
204387852010Polymorphisms in innate immunity genes and risk of childhood leukemia.12
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.37
204069642010Risk of meningioma and common variation in genes related to innate immunity.21
204387852010Polymorphisms in innate immunity genes and risk of childhood leukemia.12
194235402009Common variation in genes related to innate immunity and risk of adult glioma.35
194235402009Common variation in genes related to innate immunity and risk of adult glioma.35
126203952003Distribution of new human beta-defensin genes clustered on chromosome 20 in functionally different segments of epididymis.34
126203952003Distribution of new human beta-defensin genes clustered on chromosome 20 in functionally different segments of epididymis.34

Citation

Dessen P

DEFB127 (defensin beta 127)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62413/meetings/welcome