Seroatlas · Human Serome Atlas

DEFA3

Neutrophil defensin 3

Also known as: DEF3, DEF3_HUMAN, HNP-3

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

Protein identityUniProt · HPA

UniProt accession: P59666
Gene: DEFA3
Ensembl: ENSG00000239839
Chromosome: 8
Canonical length: 94 aa
Protein class: Cancer-related genes, Predicted secreted proteins
Secretome location: Secreted to blood

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. The protein encoded by this gene, defensin, alpha 3, is found in the microbicidal granules of neutrophils and likely plays a role in phagocyte-mediated host defense. Several alpha defensin genes are clustered on chromosome 8. This gene differs from defensin, alpha 1 by only one amino acid. This gene and the gene encoding defensin, alpha 1 are both subject to copy number variation. [provided by RefSeq, Oct 2014]

Canonical amino-acid sequenceUniProt

94 residues, UniProt reviewed canonical sequence.

>P59666|DEFA3
     1  MRTLAILAAI LLVALQAQAE PLQARADEVA AAPEQIAADI PEVVVSLAWD ESLAPKHPGS
    61  RKNMDCYCRI PACIAGERRY GTCIYQGRLW AFCC

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DEFA3 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): 0.55
Highest tissue expression: 34,745 nTPM

Expression across tissuesHPA

Tissue

bone marrow: 34,745 nTPM
spleen: 585 nTPM
lung: 179 nTPM
thymus: 136 nTPM
skin: 39 nTPM
liver: 26 nTPM

Single-cell type

neutrophil progenitors: 5,811 nCPM
neutrophils: 27 nCPM
erythrocytes: 21 nCPM
hepatocytes: 13 nCPM
megakaryocytes: 12 nCPM
hematopoietic stem cells: 9.2 nCPM

Immune cell

total PBMC: 5,732 nTPM
neutrophil: 834 nTPM
gdT-cell: 43 nTPM
classical monocyte: 24 nTPM
naive CD4 T-cell: 6.7 nTPM
eosinophil: 3.4 nTPM

Brain region

cerebral cortex: 2.3 nTPM
thalamus: 1 nTPM
midbrain: 0.7 nTPM
pons: 0.7 nTPM
amygdala: 0.6 nTPM
spinal cord: 0.5 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: -0.09

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads DEFA3 as an antibody target. Whether an autoantibody or antibody against DEFA3 could matter depends on whether native DEFA3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DEFA3 is annotated as secreted, so native DEFA3 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 DEFA3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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