DEFA5 (defensin alpha 5)

2014-08-01  

Identity

HGNC
DEFA5
LOCATION
8p23.1
LOCUSID
1670
ALIAS
DEF5,HD-5

Other Information

Locus ID:

NCBI: 1670
MIM: 600472
HGNC: 2764
Ensembl: ENSG00000164816

Variants:

dbSNP: 1670
ClinVar: 1670
TCGA: ENSG00000164816
COSMIC: DEFA5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000164816ENST00000330590Q01523

Expression (GTEx)

0
1000
2000
3000
4000
5000
6000
7000
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
198553812010Enteric defensins are essential regulators of intestinal microbial ecology.388
126607342003Protection against enteric salmonellosis in transgenic mice expressing a human intestinal defensin.227
120217762002Paneth cell trypsin is the processing enzyme for human defensin-5.122
156163052005Antibacterial activity and specificity of the six human {alpha}-defensins.109
181917902008Mechanism of adenovirus neutralization by Human alpha-defensins.80
170883262006Crystal structures of human alpha-defensins HNP4, HD5, and HD6.78
196408402009Through the looking glass, mechanistic insights from enantiomeric human defensins.45
184359322008Human alpha-defensins inhibit Clostridium difficile toxin B.43
201300472010Direct evidence from single-cell analysis that human {alpha}-defensins block adenovirus uncoating to neutralize infection.43
206738682010A genetic association study of maternal and fetal candidate genes that predispose to preterm prelabor rupture of membranes (PROM).36

Citation

Dessen P

DEFA5 (defensin alpha 5)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54832/defa5