Seroatlas · Human Serome Atlas

DEFB104A

Beta-defensin 104

Also known as: D104A_HUMAN, DEFB-4, DEFB104, DEFB104B, DEFB4

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

Protein identityUniProt · HPA

UniProt accession: Q8WTQ1
Gene: DEFB104A
Ensembl: ENSG00000176782
Chromosome: 8
Canonical length: 72 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. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 104, DEFB104A and DEFB104B, in head-to-head orientation. This gene, DEFB104A, represents the more centromeric copy. [provided by RefSeq, Oct 2014]

Canonical amino-acid sequenceUniProt

72 residues, UniProt reviewed canonical sequence.

>Q8WTQ1|DEFB104A
     1  MQRLVLLLAI SLLLYQDLPV RSEFELDRIC GYGTARCRKK CRSQEYRIGR CPNTYACCLR
    61  KWDESLLNRT KP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DEFB104A 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: 1,229 nTPM

Expression across tissuesHPA

Tissue

epididymis: 1,229 nTPM
esophagus: 1.6 nTPM
fallopian tube: 0.3 nTPM
endometrium: 0.1 nTPM
adipose tissue: 0 nTPM
adrenal gland: 0 nTPM

Single-cell type

epididymal principal cells: 1.8 nCPM
epididymal efferent duct absorptive cells: 0.1 nCPM
adipocytes: 0 nCPM
adrenal cortex cells: 0 nCPM
adrenal medulla cells: 0 nCPM
alveolar cells type 1: 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

medulla oblongata: 0.5 nTPM
pons: 0.2 nTPM
white matter: 0.2 nTPM
amygdala: 0 nTPM
basal ganglia: 0 nTPM
cerebellum: 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: 0.2

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

Molecular functions

chemoattractant activity

Cellular components

extracellular region

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads DEFB104A as an antibody target. Whether an autoantibody or antibody against DEFB104A could matter depends on whether native DEFB104A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DEFB104A is annotated as secreted, so native DEFB104A 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 DEFB104A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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