DEFB118 (defensin beta 118)

2014-11-01  

Identity

HGNC
LOCATION
20q11.21
LOCUSID
ALIAS
C20orf63,DEFB-18,ESC42,ESP13.6
FUSION GENES

Other Information

Locus ID:

NCBI: 117285
MIM: 607650
HGNC: 16196
Ensembl: ENSG00000131068

Variants:

dbSNP: 117285
ClinVar: 117285
TCGA: ENSG00000131068
COSMIC: DEFB118

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000131068ENST00000253381Q96PH6
ENSG00000131068ENST00000253381A0A384MTK2

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
150339152004The androgen-regulated epididymal sperm-binding protein, human beta-defensin 118 (DEFB118) (formerly ESC42), is an antimicrobial beta-defensin.31
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.27
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

Citation

Dessen P

DEFB118 (defensin beta 118)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62405/defb118