DEFB106A (defensin beta 106A)

2014-11-01  

Identity

HGNC
DEFB106A
LOCATION
8p23.1
LOCUSID
245909
ALIAS
BD-6,DEFB-6,DEFB106

Other Information

Locus ID:

NCBI: 245909
HGNC: 18088
Ensembl: ENSG00000186579

Variants:

dbSNP: 245909
ClinVar: 245909
TCGA: ENSG00000186579
COSMIC: DEFB106A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000186579ENST00000335186Q8N104

Pathways

PathwaySourceExternal ID
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
DefensinsREACTOMER-HSA-1461973
Beta defensinsREACTOMER-HSA-1461957
Antimicrobial peptidesREACTOMER-HSA-6803157

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
241897972014Soluble fusion expression, characterization and localization of human β-defensin 6.2
249708872014Unique properties of human β-defensin 6 (hBD6) and glycosaminoglycan complex: sandwich-like dimerization and competition with the chemokine receptor 2 (CCR2) binding site.9
241897972014Soluble fusion expression, characterization and localization of human β-defensin 6.2
249708872014Unique properties of human β-defensin 6 (hBD6) and glycosaminoglycan complex: sandwich-like dimerization and competition with the chemokine receptor 2 (CCR2) binding site.9
191943072009Copy number variation of defensin genes and HIV infection in Brazilian children.16
191943072009Copy number variation of defensin genes and HIV infection in Brazilian children.16
126008242003ORFeome-based search of airway epithelial cell-specific novel human [beta]-defensin genes.18
126008242003ORFeome-based search of airway epithelial cell-specific novel human [beta]-defensin genes.18
121937212002Identification of multiple novel epididymis-specific beta-defensin isoforms in humans and mice.66
121937212002Identification of multiple novel epididymis-specific beta-defensin isoforms in humans and mice.66

Citation

Dessen P

DEFB106A (defensin beta 106A)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62389/defb106a-(defensin-beta-106a)