Seroatlas · Human Serome Atlas

DEFB134

Beta-defensin 134

Also known as: DB134_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q4QY38
Gene: DEFB134
Ensembl: ENSG00000205882
Chromosome: 8
Canonical length: 66 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 8p23. [provided by RefSeq, Nov 2014]

Canonical amino-acid sequenceUniProt

66 residues, UniProt reviewed canonical sequence.

>Q4QY38|DEFB134
     1  MKPLLVVFVF LFLWDPVLAG INSLSSEMHK KCYKNGICRL ECYESEMLVA YCMFQLECCV
    61  KGNPAP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DEFB134 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): 0.45
Highest tissue expression: 24 nTPM

Expression across tissuesHPA

Tissue

epididymis: 24 nTPM
testis: 2 nTPM
pancreas: 0.5 nTPM
seminal vesicle: 0.5 nTPM
cerebellum: 0.3 nTPM
parathyroid gland: 0.3 nTPM

Single-cell type

late spermatids: 4.8 nCPM
epididymal principal cells: 4.7 nCPM
early spermatids: 2.7 nCPM
epididymal efferent duct ciliated cells: 0.4 nCPM
brain excitatory neurons: 0.3 nCPM
podocytes: 0.3 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

cerebral cortex: 1.5 nTPM
cerebellum: 1.2 nTPM
white matter: 1 nTPM
basal ganglia: 0.7 nTPM
hippocampal formation: 0.6 nTPM
hypothalamus: 0.6 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): 1.96
gnomAD pLI: 0
gnomAD missense Z: -1.45
DepMap mean gene effect: -0.06
DepMap dependency class: none

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

Cellular components

extracellular region

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads DEFB134 as an antibody target. Whether an autoantibody or antibody against DEFB134 could matter depends on whether native DEFB134 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DEFB134 is annotated as secreted, so native DEFB134 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 DEFB134 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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