DEFB119
Beta-defensin 119
Also known as: DB119_HUMAN, DEFB-19, DEFB-20, DEFB120
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8N690
- Gene
- DEFB119
- Ensembl
- ENSG00000180483
- Chromosome
- 20
- Canonical length
- 84 aa
- Protein class
- Predicted secreted proteins
- Subcellular location
- Mitochondria
- Secretome location
- Secreted in male reproductive system
OverviewNCBI Gene
This gene encodes a member of the beta subfamily of defensins. Beta-defensins are antimicrobial peptides that protect tissues and organs from infection by a variety of microorganisms. This gene is found in a cluster with other beta-defensin genes on the long arm of chromosome 20. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]
Canonical amino-acid sequenceUniProt
84 residues, UniProt reviewed canonical sequence.
>Q8N690|DEFB119
1 MKLLYLFLAI LLAIEEPVIS GKRHILRCMG NSGICRASCK KNEQPYLYCR NCQSCCLQSY
61 MRISISGKEE NTDWSYEKQW PRLPLocalizationUniProt · AlphaFold · HPA
Whether an antibody against DEFB119 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Secreted
- Secreted
- Yes
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.53
- Highest tissue expression
- 1,809 nTPM
Expression across tissuesHPA
Tissue
- epididymis: 1,809 nTPM
- testis: 337 nTPM
- retina: 144 nTPM
- choroid plexus: 0.6 nTPM
- duodenum: 0.3 nTPM
- prostate: 0.3 nTPM
Single-cell type
- epididymal principal cells: 2,819 nCPM
- sertoli cells: 533 nCPM
- late spermatids: 139 nCPM
- rod photoreceptor cells: 122 nCPM
- early spermatids: 64 nCPM
- late primary spermatocytes: 50 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- hypothalamus: 0.2 nTPM
- cerebellum: 0.1 nTPM
- amygdala: 0 nTPM
- basal ganglia: 0 nTPM
- cerebral cortex: 0 nTPM
- choroid plexus: 0 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.88
- gnomAD pLI
- 0.1
- gnomAD missense Z
- 0.09
- DepMap mean gene effect
- 0.09
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Big defensin domain
- Big defensin
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads DEFB119 as an antibody target. Whether an autoantibody or antibody against DEFB119 could matter depends on whether native DEFB119 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
DEFB119 is annotated as secreted, so native DEFB119 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.
Annotation status
The present source text does not explicitly label DEFB119 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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