Identity
HGNC
LOCATION
20q11.21
LOCUSID
ALIAS
DEFB-19,DEFB-20,DEFB120,DEFB20,ESC42-RELA,ESC42-RELB
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 245932
MIM: 615997
HGNC: 18099
Ensembl: ENSG00000180483
Variants:
dbSNP: 245932
ClinVar: 245932
TCGA: ENSG00000180483
COSMIC: DEFB119
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000180483 | ENST00000339144 | Q8N690 |
| ENSG00000180483 | ENST00000376315 | Q8N690 |
| ENSG00000180483 | ENST00000376321 | Q8N690 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36513070 | 2022 | β-Defensin 19/119 mediates sperm chemotaxis and is associated with idiopathic infertility. | 2 |
| 36513070 | 2022 | β-Defensin 19/119 mediates sperm chemotaxis and is associated with idiopathic infertility. | 2 |
| 20406964 | 2010 | Risk of meningioma and common variation in genes related to innate immunity. | 21 |
| 20438785 | 2010 | Polymorphisms in innate immunity genes and risk of childhood leukemia. | 12 |
| 20406964 | 2010 | Risk of meningioma and common variation in genes related to innate immunity. | 21 |
| 20438785 | 2010 | Polymorphisms in innate immunity genes and risk of childhood leukemia. | 12 |
| 19423540 | 2009 | Common variation in genes related to innate immunity and risk of adult glioma. | 35 |
| 19423540 | 2009 | Common variation in genes related to innate immunity and risk of adult glioma. | 35 |
| 15772680 | 2005 | Identification, characterization, and evolution of a primate beta-defensin gene cluster. | 17 |
| 15772680 | 2005 | Identification, characterization, and evolution of a primate beta-defensin gene cluster. | 17 |
Citation
Dessen P
DEFB119 (defensin beta 119)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/62406/defb119-(defensin-beta-119)
