Seroatlas · Human Serome Atlas

DEFB118

Defensin beta 118

Also known as: C20orf63, DB118_HUMAN, DEFB-18, dJ1018D12.3, ESC42

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q96PH6
Gene: DEFB118
Ensembl: ENSG00000131068
Chromosome: 20
Canonical length: 123 aa
Protein class: Predicted secreted proteins
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. Expression of this gene is regulated by androgen, and the encoded protein binds to sperm and exhibits antibacterial activity against E. coli. This gene is found in a cluster with other beta-defensin genes on the long arm of chromosome 20. [provided by RefSeq, Nov 2014]

Canonical amino-acid sequenceUniProt

123 residues, UniProt reviewed canonical sequence.

>Q96PH6|DEFB118
     1  MKLLLLALPM LVLLPQVIPA YSGEKKCWNR SGHCRKQCKD GEAVKDTCKN LRACCIPSNE
    61  DHRRVPATSP TPLSDSTPGI IDDILTVRFT TDYFEVSSKK DMVEESEAGR GTETSLPNVH
   121  HSS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DEFB118 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): 0.58
Highest tissue expression: 936 nTPM

Expression across tissuesHPA

Tissue

epididymis: 936 nTPM
adipose tissue: 0 nTPM
adrenal gland: 0 nTPM
amygdala: 0 nTPM
appendix: 0 nTPM
basal ganglia: 0 nTPM

Single-cell type

epididymal principal cells: 3,732 nCPM
epididymal basal cells: 29 nCPM
epididymal clear cells: 25 nCPM
mast cells: 8.7 nCPM
epididymal efferent duct ciliated cells: 8.4 nCPM
epididymal efferent duct absorptive cells: 7.7 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

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DEFB118.

Disease | ImmuneIEDB

Conditions an epitope on DEFB118 was assayed in.

berylliosis T cell

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: -0.37
DepMap mean gene effect: -0.11
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

Molecular functions

Cellular components

extracellular region

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads DEFB118 as an antibody target. Whether an autoantibody or antibody against DEFB118 could matter depends on whether native DEFB118 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DEFB118 is annotated as secreted, so native DEFB118 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 DEFB118 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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