DEFB104A (defensin beta 104A)

2008-09-01  

Identity

HGNC
DEFB104A
LOCATION
8p23.1
LOCUSID
140596
ALIAS
BD-4,DEFB-4,DEFB104,DEFB4,hBD-4

Other Information

Locus ID:

NCBI: 140596
HGNC: 18115
Ensembl: ENSG00000176782

Variants:

dbSNP: 140596
ClinVar: 140596
TCGA: ENSG00000176782
COSMIC: DEFB104A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000176782ENST00000314265Q8WTQ1

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
114812412001Human beta-defensin 4: a novel inducible peptide with a specific salt-sensitive spectrum of antimicrobial activity.103
198094102010Association of higher DEFB4 genomic copy number with Crohn's disease.41
200398812010The innate immune molecule, NOD1, regulates direct killing of Helicobacter pylori by antimicrobial peptides.34
204455672010Both copy number and sequence variations affect expression of human DEFB4.20
185159862008Genetic variants of the copy number polymorphic beta-defensin locus are associated with sporadic prostate cancer.15
218793302012Expression of β-defensin-4 in "an in vivo and ex vivo model" of human osteoarthritic knee meniscus.15
191943072009Copy number variation of defensin genes and HIV infection in Brazilian children.13
231989422012Trefoil factor 3 isolated from human breast milk downregulates cytokines (IL8 and IL6) and promotes human beta defensin (hBD2 and hBD4) expression in intestinal epithelial cells HT-29.9
207204502010Polymorphisms of beta defensins are associated with the risk of severe acute pancreatitis.8
260388282015Expression and new exon mutations of the human Beta defensins and their association on colon cancer development.8

Citation

Dessen P

DEFB104A (defensin beta 104A)

Atlas Genet Cytogenet Oncol Haematol. 2008-09-01

Online version: http://atlasgeneticsoncology.org/gene/50364/defb104a