DEFB123

Chr 20

defensin beta 123

Also known as: DEFB-23, DEFB23, ESC42-RELD

NCBI Gene: 245936 ENSG00000180424 UniProt: Q8N688 OMIM: 616076

The protein functions as an antimicrobial defensin with antibacterial activity, serving as part of the host immune response against invading microorganisms. Currently, no Mendelian diseases have been definitively associated with mutations in this gene. The gene shows moderate tolerance to loss-of-function variants (pLI = 0.41, LOEUF = 1.68), suggesting it may not be essential for normal development.

OMIM ResearchSummary from RefSeq, UniProt

Defensins are cysteine-rich cationic polypeptides that are important in the host immunologic response to invading microorganisms. This antimicrobial protein is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20q11.1. Two transcript variants, one protein-coding and the other not, have been found for this gene. [provided by RefSeq, Nov 2014]

OMIM 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

1.68

LOEUF

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Mechanism