DEFB107A (defensin beta 107A)

2014-11-01  

Identity

HGNC
DEFB107A
LOCATION
8p23.1
LOCUSID
245910
ALIAS
BD-7,DEFB-7,DEFB107

Other Information

Locus ID:

NCBI: 245910
HGNC: 18086
Ensembl: ENSG00000186572

Variants:

dbSNP: 245910
ClinVar: 245910
TCGA: ENSG00000186572
COSMIC: DEFB107A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000186572ENST00000335021Q8IZN7

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
160338652005Cross-species analysis of the mammalian beta-defensin gene family: presence of syntenic gene clusters and preferential expression in the male reproductive tract.68
245521812014Narrowing down the distal border of the copy number variable beta-defensin gene cluster on human 8p23.3

Citation

Dessen P

DEFB107A (defensin beta 107A)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62391/defb107a-(defensin-beta-107a)