Seroatlas · Human Serome Atlas

DEFA4

Defensin alpha 4

Also known as: DEF4, DEF4_HUMAN, HP-4

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

Protein identityUniProt · HPA

UniProt accession
P12838
Gene
DEFA4
Ensembl
ENSG00000164821
Chromosome
8
Canonical length
97 aa
Protein class
Predicted secreted proteins
Secretome location
Secreted to blood
Quaternary structure
Homodimer

OverviewNCBI Gene

Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. Several alpha defensin genes are clustered on chromosome 8. This gene differs from other genes of this family by an extra 83-base segment that is apparently the result of a recent duplication within the coding region. The protein encoded by this gene, defensin, alpha 4, is found in the neutrophils; it exhibits corticostatic activity and inhibits corticotropin stimulated corticosterone production. [provided by RefSeq, Oct 2014]

Canonical amino-acid sequenceUniProt

97 residues, UniProt reviewed canonical sequence.

>P12838|DEFA4
     1  MRIIALLAAI LLVALQVRAG PLQARGDEAP GQEQRGPEDQ DISISFAWDK SSALQVSGST
    61  RGMVCSCRLV FCRRTELRVG NCLIGGVSFT YCCTRVD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DEFA4 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)
0.56
Highest tissue expression
2,548 nTPM

Expression across tissuesHPA

Tissue

  • bone marrow: 2,548 nTPM
  • spleen: 47 nTPM
  • lung: 15 nTPM
  • thymus: 8.3 nTPM
  • liver: 2.7 nTPM
  • salivary gland: 2.1 nTPM

Single-cell type

  • neutrophil progenitors: 392 nCPM
  • monocyte progenitors: 18 nCPM
  • megakaryocytes: 6.2 nCPM
  • erythrocytes: 3 nCPM
  • neutrophils: 0.8 nCPM
  • hematopoietic stem cells: 0.5 nCPM

Immune cell

  • total PBMC: 36 nTPM
  • neutrophil: 13 nTPM
  • gdT-cell: 1 nTPM
  • classical monocyte: 0.5 nTPM
  • basophil: 0 nTPM
  • eosinophil: 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)
1.38
gnomAD pLI
0.5
gnomAD missense Z
-2.34
DepMap mean gene effect
0.07
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of DEFA4 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads DEFA4 as an antibody target. Whether an autoantibody or antibody against DEFA4 could matter depends on whether native DEFA4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DEFA4 is annotated as secreted, so native DEFA4 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 DEFA4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/DEFA4. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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