Seroatlas · Human Serome Atlas

DEFB114

Beta-defensin 114

Also known as: DB114_HUMAN, DEFB-14

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

Protein identityUniProt · HPA

UniProt accession: Q30KQ6
Gene: DEFB114
Ensembl: ENSG00000177684
Chromosome: 6
Canonical length: 69 aa
Protein class: Predicted secreted proteins
Secretome location: Secreted in male reproductive system

OverviewNCBI Gene

Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. The protein encoded by this gene is a beta-defensin with antimicrobial activity against E. coli, S. aureus, and C. albicans. The encoded protein also binds and neutralizes lipopolysaccharide (LPS), a factor involved in inflammatory diseases and male reproductive issues. [provided by RefSeq, Nov 2014]

Canonical amino-acid sequenceUniProt

69 residues, UniProt reviewed canonical sequence.

>Q30KQ6|DEFB114
     1  MRIFYYLHFL CYVTFILPAT CTLVNADRCT KRYGRCKRDC LESEKQIDIC SLPRKICCTE
    61  KLYEEDDMF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DEFB114 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): 0.48
Highest tissue expression: 50 nTPM

Expression across tissuesHPA

Tissue

epididymis: 50 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: 72 nCPM
epididymal basal cells: 0.6 nCPM
mast cells: 0.2 nCPM
epididymal efferent duct absorptive cells: 0.1 nCPM
adipocytes: 0 nCPM
adrenal cortex cells: 0 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): 1.89
gnomAD pLI: 0.09
gnomAD missense Z: -0.45
DepMap mean gene effect: -0.04
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 0% 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 space

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads DEFB114 as an antibody target. Whether an autoantibody or antibody against DEFB114 could matter depends on whether native DEFB114 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DEFB114 is annotated as secreted, so native DEFB114 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 DEFB114 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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