DEFA4 (defensin alpha 4)

2011-02-01  

Identity

HGNC
DEFA4
LOCATION
8p23.1
LOCUSID
1669
ALIAS
DEF4,HNP-4,HP-4,HP4

Other Information

Locus ID:

NCBI: 1669
MIM: 601157
HGNC: 2763
Ensembl: ENSG00000164821

Variants:

dbSNP: 1669
ClinVar: 1669
TCGA: ENSG00000164821
COSMIC: DEFA4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000164821ENST00000297435P12838

Expression (GTEx)

0
10
20
30
40
50
60
70
80
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
Neutrophil degranulationREACTOMER-HSA-6798695

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
193631402009Gene expression profiles of acute exacerbations of idiopathic pulmonary fibrosis.128
170883262006Crystal structures of human alpha-defensins HNP4, HD5, and HD6.78
25004361989Purification and characterization of human neutrophil peptide 4, a novel member of the defensin family.49
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.27
194235402009Common variation in genes related to innate immunity and risk of adult glioma.19
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
191358732009Single nucleotide polymorphisms and the haplotype in the DEFB1 gene are associated with atopic dermatitis in a Korean population.9
207274962010Gene expression of oncogenes, antimicrobial peptides, and cytokines in the development of oral leukoplakia.8
200561782010Polymorphisms in innate immunity genes and patients response to dendritic cell-based HIV immuno-treatment.5

Citation

Dessen P

DEFA4 (defensin alpha 4)

Atlas Genet Cytogenet Oncol Haematol. 2011-02-01

Online version: http://atlasgeneticsoncology.org/gene/52075/defa4