DEFB123 (defensin beta 123)

2014-11-01  

Identity

HGNC
LOCATION
20q11.21
LOCUSID
ALIAS
DEFB-23,DEFB23,ESC42-RELD
FUSION GENES

Other Information

Locus ID:

NCBI: 245936
MIM: 616076
HGNC: 18103
Ensembl: ENSG00000180424

Variants:

dbSNP: 245936
ClinVar: 245936
TCGA: ENSG00000180424
COSMIC: DEFB123

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000180424ENST00000376309Q8N688

Expression (GTEx)

0
50
100
150
200
250

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
157726802005Identification, characterization, and evolution of a primate beta-defensin gene cluster.14

Citation

Dessen P

DEFB123 (defensin beta 123)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62409/defb123