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 YCCTRVDLocalizationUniProt · 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
- antibacterial humoral response
- antifungal humoral response
- antimicrobial humoral immune response mediated by antimicrobial peptide
- antimicrobial humoral response
- defense response to fungus
- defense response to Gram-negative bacterium
- defense response to Gram-positive bacterium
- disruption of plasma membrane integrity in another organism
- innate immune response
- killing of cells of another organism
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.
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