DEFB126 (defensin beta 126)

2014-11-01  

Identity

HGNC
DEFB126
LOCATION
20p13
LOCUSID
81623
ALIAS
C20orf8,DEFB-26,DEFB26,HBD26,bA530N10.1,hBD-26

Other Information

Locus ID:

NCBI: 81623
HGNC: 15900
Ensembl: ENSG00000125788

Variants:

dbSNP: 81623
ClinVar: 81623
TCGA: ENSG00000125788
COSMIC: DEFB126

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000125788ENST00000382398Q9BYW3
ENSG00000125788ENST00000382398A0A384MDP8

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

References

Pubmed IDYearTitleCitations
353816962022DEFB126 polymorphisms and association with idiopathic asthenozoospermia in China.0
353816962022DEFB126 polymorphisms and association with idiopathic asthenozoospermia in China.0
315041982020Beta-defensin126 is correlated with sperm motility in fertile and infertile men†.10
315041982020Beta-defensin126 is correlated with sperm motility in fertile and infertile men†.10
305290032019Influence of chewing on expression level of human beta-defensin 2 and secretory immunoglobulin A in the epithelium.0
314744362019The role of DEFB126 variation in male infertility and medically assisted reproduction technique outcome.5
305290032019Influence of chewing on expression level of human beta-defensin 2 and secretory immunoglobulin A in the epithelium.0
314744362019The role of DEFB126 variation in male infertility and medically assisted reproduction technique outcome.5
257210982015Another functional frame-shift polymorphism of DEFB126 (rs11467497) associated with male infertility.5
257210982015Another functional frame-shift polymorphism of DEFB126 (rs11467497) associated with male infertility.5
232295692013Human beta-defensin DEFB126 is capable of inhibiting LPS-mediated inflammation.11
232295692013Human beta-defensin DEFB126 is capable of inhibiting LPS-mediated inflammation.11
227106702012Multifunctional glycoprotein DEFB126--a curious story of defensin-clad spermatozoa.36
227106702012Multifunctional glycoprotein DEFB126--a curious story of defensin-clad spermatozoa.36
217756682011A common mutation in the defensin DEFB126 causes impaired sperm function and subfertility.51

Citation

Dessen P

DEFB126 (defensin beta 126)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62412/cancer-prone-explorer/meetings/img/logo-atlas-4.svg