DEFB123
Beta-defensin 123
Also known as: DB123_HUMAN, DEFB-23
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8N688
- Gene
- DEFB123
- Ensembl
- ENSG00000180424
- Chromosome
- 20
- Canonical length
- 67 aa
- Protein class
- Predicted secreted proteins
- Secretome location
- Secreted in other tissues
OverviewNCBI Gene
Defensins are cysteine-rich cationic polypeptides that are important in the host immunologic response to invading microorganisms. This antimicrobial protein 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 20q11.1. Two transcript variants, one protein-coding and the other not, have been found for this gene. [provided by RefSeq, Nov 2014]
Canonical amino-acid sequenceUniProt
67 residues, UniProt reviewed canonical sequence.
>Q8N688|DEFB123
1 MKLLLLTLTV LLLLSQLTPG GTQRCWNLYG KCRYRCSKKE RVYVYCINNK MCCVKPKYQP
61 KERWWPFLocalizationUniProt · AlphaFold · HPA
Whether an antibody against DEFB123 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)
- 0.49
- Highest tissue expression
- 207 nTPM
Expression across tissuesHPA
Tissue
- testis: 207 nTPM
- epididymis: 150 nTPM
- small intestine: 0.3 nTPM
- spleen: 0.3 nTPM
- prostate: 0.2 nTPM
- vagina: 0.2 nTPM
Single-cell type
- sertoli cells: 230 nCPM
- epididymal principal cells: 119 nCPM
- late spermatids: 60 nCPM
- late primary spermatocytes: 21 nCPM
- early spermatids: 16 nCPM
- leydig cells: 5.2 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
- 0.32
- DepMap mean gene effect
- 0.08
- DepMap dependency class
- selective
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
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads DEFB123 as an antibody target. Whether an autoantibody or antibody against DEFB123 could matter depends on whether native DEFB123 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
DEFB123 is annotated as secreted, so native DEFB123 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 DEFB123 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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