DEFB130A (defensin beta 130A)

2017-09-01  

Identity

HGNC
DEFB130A
LOCATION
8p23.1
LOCUSID
245940
ALIAS
DEFB-30,DEFB130,DEFB130L,DEFB30

Other Information

Locus ID:

NCBI: 245940
HGNC: 18107
Ensembl: ENSG00000232948

Variants:

dbSNP: 245940
ClinVar: 245940
TCGA: ENSG00000232948
COSMIC: DEFB130A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000232948ENST00000400079P0DP74

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
281814992017Involvement of β-defensin 130 (DEFB130) in the macrophage microbicidal mechanisms for killing Plasmodium falciparum.7
281814992017Involvement of β-defensin 130 (DEFB130) in the macrophage microbicidal mechanisms for killing Plasmodium falciparum.7
160338652005Cross-species analysis of the mammalian beta-defensin gene family: presence of syntenic gene clusters and preferential expression in the male reproductive tract.83
160338652005Cross-species analysis of the mammalian beta-defensin gene family: presence of syntenic gene clusters and preferential expression in the male reproductive tract.83

Citation

Dessen P

DEFB130A (defensin beta 130A)

Atlas Genet Cytogenet Oncol Haematol. 2017-09-01

Online version: http://atlasgeneticsoncology.org/gene/79936/css/lib/js/welcome