DEFA6 (defensin alpha 6)

2007-02-01  

Identity

HGNC
DEFA6
LOCATION
8p23.1
LOCUSID
1671
ALIAS
DEF6,HD-6
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 1671
MIM: 600471
HGNC: 2765
Ensembl: ENSG00000164822

Variants:

dbSNP: 1671
ClinVar: 1671
TCGA: ENSG00000164822
COSMIC: DEFA6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000164822ENST00000297436Q01524

Expression (GTEx)

0
500
1000
1500
2000
2500
3000
3500
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
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
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
227222512012Human α-defensin 6 promotes mucosal innate immunity through self-assembled peptide nanonets.107
170883262006Crystal structures of human alpha-defensins HNP4, HD5, and HD6.78
216721952011Human defensins 5 and 6 enhance HIV-1 infectivity through promoting HIV attachment.30
253543182015Paneth cell α-defensin 6 (HD-6) is an antimicrobial peptide.30
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.27
251581662014Molecular basis for self-assembly of a human host-defense peptide that entraps bacterial pathogens.20
194235402009Common variation in genes related to innate immunity and risk of adult glioma.19
156134812005Identification of defensin alpha6 as a potential biomarker in colon adenocarcinoma.14
191943072009Copy number variation of defensin genes and HIV infection in Brazilian children.13
204069642010Risk of meningioma and common variation in genes related to innate immunity.12

Citation

Dessen P

DEFA6 (defensin alpha 6)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43817/defa6