DEFB126
Beta-defensin 126
Also known as: bA530N10.1, C20orf8, DB126_HUMAN, DEFB-26
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9BYW3
- Gene
- DEFB126
- Ensembl
- ENSG00000125788
- Chromosome
- 20
- Canonical length
- 111 aa
- Protein class
- Disease related genes, Predicted secreted proteins
- Secretome location
- Secreted in male reproductive system
- Quaternary structure
- Homodimer
OverviewNCBI Gene
Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. The encoded protein is highly similar to an epididymal-specific secretory protein (ESP13.2) from cynomolgus monkey. Mutation of this gene is associated with impaired sperm function. [provided by RefSeq, Nov 2014]
Canonical amino-acid sequenceUniProt
111 residues, UniProt reviewed canonical sequence.
>Q9BYW3|DEFB126
1 MKSLLFTLAV FMLLAQLVSG NWYVKKCLND VGICKKKCKP EEMHVKNGWA MCGKQRDCCV
61 PADRRANYPV FCVQTKTTRI STVTATTATT TLMMTTASMS SMAPTPVSPT GLocalizationUniProt · AlphaFold · HPA
Whether an antibody against DEFB126 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
- 1,210 nTPM
Expression across tissuesHPA
Tissue
- epididymis: 1,210 nTPM
- seminal vesicle: 4 nTPM
- smooth muscle: 0.1 nTPM
- testis: 0.1 nTPM
- adipose tissue: 0 nTPM
- adrenal gland: 0 nTPM
Single-cell type
- epididymal principal cells: 821 nCPM
- epididymal basal cells: 18 nCPM
- epididymal clear cells: 6.1 nCPM
- mast cells: 4.5 nCPM
- adipocytes: 2.5 nCPM
- cardiomyocytes: 2.5 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
- amygdala: 0 nTPM
- basal ganglia: 0 nTPM
- cerebellum: 0 nTPM
- cerebral cortex: 0 nTPM
- choroid plexus: 0 nTPM
- hippocampal formation: 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)
- 1.68
- gnomAD pLI
- 0.41
- gnomAD missense Z
- -0.26
- DepMap mean gene effect
- 0.04
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- antimicrobial humoral immune response mediated by antimicrobial peptide
- defense response to Gram-negative bacterium
- single fertilization
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads DEFB126 as an antibody target. Whether an autoantibody or antibody against DEFB126 could matter depends on whether native DEFB126 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
DEFB126 is annotated as secreted, so native DEFB126 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 DEFB126 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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