DEFB4A (defensin beta 4A)

2010-05-01  

Identity

HGNC
LOCATION
8p23.1
LOCUSID
ALIAS
BD-2,DEFB-2,DEFB102,DEFB2,DEFB4,HBD-2,SAP1

Other Information

Locus ID:

NCBI: 1673
MIM: 602215
HGNC: 2767
Ensembl: ENSG00000171711

Variants:

dbSNP: 1673
ClinVar: 1673
TCGA: ENSG00000171711
COSMIC: DEFB4A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000171711ENST00000302247O15263

Expression (GTEx)

0
1
2
3

Pathways

PathwaySourceExternal ID
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
DefensinsREACTOMER-HSA-1461973
Beta defensinsREACTOMER-HSA-1461957
Antimicrobial peptidesREACTOMER-HSA-6803157
IL-17 signaling pathwayKEGGko04657
IL-17 signaling pathwayKEGGhsa04657

References

Pubmed IDYearTitleCitations
180592662008Psoriasis is associated with increased beta-defensin genomic copy number.233
180592662008Psoriasis is associated with increased beta-defensin genomic copy number.233
169093822006A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon.160
169093822006A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon.160
153854742004NF-kappaB- and AP-1-mediated induction of human beta defensin-2 in intestinal epithelial cells by Escherichia coli Nissle 1917: a novel effect of a probiotic bacterium.109
104046371999Human beta-defensin-2.97
174035382007Various human epithelial cells express functional Toll-like receptors, NOD1 and NOD2 to produce anti-microbial peptides, but not proinflammatory cytokines.97
199487232010Direct and indirect induction by 1,25-dihydroxyvitamin D3 of the NOD2/CARD15-defensin beta2 innate immune pathway defective in Crohn disease.95
163190622006NOD2/CARD15 mediates induction of the antimicrobial peptide human beta-defensin-2.92
204837502010Human beta-defensin 2 and 3 and their mouse orthologs induce chemotaxis through interaction with CCR2.92

Citation

Dessen P

DEFB4A (defensin beta 4A)

Atlas Genet Cytogenet Oncol Haematol. 2010-05-01

Online version: http://atlasgeneticsoncology.org/gene/51501/defb4a