DEFA4

Chr 8

defensin alpha 4

Also known as: DEF4, HNP-4, HP-4, HP4

NCBI Gene: 1669 ENSG00000164821 UniProt: P12838

DEFA4 encodes defensin alpha 4, an antimicrobial peptide found in neutrophil granules that provides host defense against Gram-negative and Gram-positive bacteria and fungi. The gene has relatively low constraint to loss-of-function variants (pLI 0.50, LOEUF 1.38), and no well-established Mendelian diseases have been linked to DEFA4 mutations. This defensin also exhibits corticostatic activity by inhibiting corticotropin-stimulated corticosterone production.

ResearchSummary from RefSeq, UniProt

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]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.38

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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