DEFB105A (defensin beta 105A)

2014-11-01  

Identity

HGNC
LOCATION
8p23.1
LOCUSID
ALIAS
BD-5,DEFB-5,DEFB105

Other Information

Locus ID:

NCBI: 245908
HGNC: 18087
Ensembl: ENSG00000186562

Variants:

dbSNP: 245908
ClinVar: 245908
TCGA: ENSG00000186562
COSMIC: DEFB105A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000186562ENST00000334773Q8NG35
ENSG00000186562ENST00000334773A0A0K0K1I4

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
121937212002Identification of multiple novel epididymis-specific beta-defensin isoforms in humans and mice.52
218614592011Human defensin 5 disulfide array mutants: disulfide bond deletion attenuates antibacterial activity against Staphylococcus aureus.21
218614592011Human defensin 5 disulfide array mutants: disulfide bond deletion attenuates antibacterial activity against Staphylococcus aureus.21
191943072009Copy number variation of defensin genes and HIV infection in Brazilian children.13

Citation

Dessen P

DEFB105A (defensin beta 105A)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62387/defb105a