DEFA3 (defensin alpha 3)

2007-02-01  

Identity

HGNC
LOCATION
8p23.1
LOCUSID
ALIAS
DEF3,HNP-3,HNP3,HP-3,HP3

Other Information

Locus ID:

NCBI: 1668
MIM: 604522
HGNC: 2762
Ensembl: ENSG00000239839

Variants:

dbSNP: 1668
ClinVar: 1668
TCGA: ENSG00000239839
COSMIC: DEFA3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000239839ENST00000327857P59666
ENSG00000239839ENST00000327857Q6EZE9

Expression (GTEx)

0
50
100
150
200
250
300
350
400

Pathways

PathwaySourceExternal ID
Transcriptional misregulation in cancerKEGGko05202
Transcriptional misregulation in cancerKEGGhsa05202
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
DefensinsREACTOMER-HSA-1461973
Alpha-defensinsREACTOMER-HSA-1462054
Antimicrobial peptidesREACTOMER-HSA-6803157

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
29972781985Defensins. Natural peptide antibiotics of human neutrophils.330
193631402009Gene expression profiles of acute exacerbations of idiopathic pulmonary fibrosis.128
150040482004Human beta-defensins 2 and 3 demonstrate strain-selective activity against oral microorganisms.87
159442002005Copy number polymorphism and expression level variation of the human alpha-defensin genes DEFA1 and DEFA3.74
127108512003Antimicrobial peptides in amniotic fluid: defensins, calprotectin and bacterial/permeability-increasing protein in patients with microbial invasion of the amniotic cavity, intra-amniotic inflammation, preterm labor and premature rupture of membranes.63
184359322008Human alpha-defensins inhibit Clostridium difficile toxin B.43
152082692004Regulation of neovascularization by human neutrophil peptides (alpha-defensins): a link between inflammation and angiogenesis.35
128718492004Neutrophil defensins enhance lung epithelial wound closure and mucin gene expression in vitro.31
201955432010Increased alpha-defensins 1-3 production by dendritic cells in HIV-infected individuals is associated with slower disease progression.25
194235402009Common variation in genes related to innate immunity and risk of adult glioma.19

Citation

Dessen P

DEFA3 (defensin alpha 3)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43905/defa3-(defensin-alpha-3)