DEFB119 (defensin beta 119)

2014-11-01  

Identity

HGNC
LOCATION
20q11.21
LOCUSID
ALIAS
DEFB-19,DEFB-20,DEFB120,DEFB20,ESC42-RELA,ESC42-RELB
FUSION GENES

Other Information

Locus ID:

NCBI: 245932
MIM: 615997
HGNC: 18099
Ensembl: ENSG00000180483

Variants:

dbSNP: 245932
ClinVar: 245932
TCGA: ENSG00000180483
COSMIC: DEFB119

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000180483ENST00000339144Q8N690
ENSG00000180483ENST00000376315Q8N690
ENSG00000180483ENST00000376321Q8N690

Expression (GTEx)

0
50
100
150
200
250
300
350

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
194235402009Common variation in genes related to innate immunity and risk of adult glioma.19
157726802005Identification, characterization, and evolution of a primate beta-defensin gene cluster.14
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

DEFB119 (defensin beta 119)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62406/defb119