DEFB118 (defensin beta 118)

2014-11-01  

Identity

HGNC
DEFB118
LOCATION
20q11.21
LOCUSID
117285
ALIAS
C20orf63,DEFB-18,ESC42,ESP13.6
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 117285
MIM: 607650
HGNC: 16196
Ensembl: ENSG00000131068

Variants:

dbSNP: 117285
ClinVar: 117285
TCGA: ENSG00000131068
COSMIC: DEFB118

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000131068ENST00000253381Q96PH6
ENSG00000131068ENST00000253381A0A384MTK2

Expression (GTEx)

0
1
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
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
331812662021The truncated human beta-defensin 118 can modulate lipopolysaccharide mediated inflammatory response in RAW264.7 macrophages.5
331812662021The truncated human beta-defensin 118 can modulate lipopolysaccharide mediated inflammatory response in RAW264.7 macrophages.5
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.37
204069642010Risk of meningioma and common variation in genes related to innate immunity.21
204387852010Polymorphisms in innate immunity genes and risk of childhood leukemia.12
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.37
204069642010Risk of meningioma and common variation in genes related to innate immunity.21
204387852010Polymorphisms in innate immunity genes and risk of childhood leukemia.12
194235402009Common variation in genes related to innate immunity and risk of adult glioma.35
194235402009Common variation in genes related to innate immunity and risk of adult glioma.35
150339152004The androgen-regulated epididymal sperm-binding protein, human beta-defensin 118 (DEFB118) (formerly ESC42), is an antimicrobial beta-defensin.41
150339152004The androgen-regulated epididymal sperm-binding protein, human beta-defensin 118 (DEFB118) (formerly ESC42), is an antimicrobial beta-defensin.41

Citation

Dessen P

DEFB118 (defensin beta 118)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62405/haematological-explorer/css/js/_common.js