Seroatlas · Human Serome Atlas

DEFB129

Beta-defensin 129

Also known as: bA530N10.3, C20orf87, DB129_HUMAN, DEFB-29

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

Protein identityUniProt · HPA

UniProt accession: Q9H1M3
Gene: DEFB129
Ensembl: ENSG00000125903
Chromosome: 20
Canonical length: 183 aa
Protein class: Predicted secreted proteins
Secretome location: Secreted in male reproductive system

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. [provided by RefSeq, Nov 2014]

Canonical amino-acid sequenceUniProt

183 residues, UniProt reviewed canonical sequence.

>Q9H1M3|DEFB129
     1  MKLLFPIFAS LMLQYQVNTE FIGLRRCLMG LGRCRDHCNV DEKEIQKCKM KKCCVGPKVV
    61  KLIKNYLQYG TPNVLNEDVQ EMLKPAKNSS AVIQRKHILS VLPQIKSTSF FANTNFVIIP
   121  NATPMNSATI STMTPGQITY TATSTKSNTK ESRDSATASP PPAPPPPNIL PTPSLELEEA
   181  EEQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DEFB129 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): 0.61
Highest tissue expression: 1,833 nTPM

Expression across tissuesHPA

Tissue

epididymis: 1,833 nTPM
seminal vesicle: 3.1 nTPM
adipose tissue: 0 nTPM
adrenal gland: 0 nTPM
amygdala: 0 nTPM
appendix: 0 nTPM

Single-cell type

epididymal principal cells: 864 nCPM
epididymal basal cells: 10 nCPM
epididymal clear cells: 4.1 nCPM
mast cells: 2.7 nCPM
epididymal efferent duct ciliated cells: 1.7 nCPM
t-cells: 1.7 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

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: 0.81
DepMap mean gene effect: -0.3
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 1% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

defense response to bacterium

Cellular components

extracellular region

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads DEFB129 as an antibody target. Whether an autoantibody or antibody against DEFB129 could matter depends on whether native DEFB129 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DEFB129 is annotated as secreted, so native DEFB129 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 DEFB129 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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