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COVID-19 research

Gene: DEFA1

Amber List (moderate evidence)

DEFA1 (defensin alpha 1)
EnsemblGeneIds (GRCh38): ENSG00000206047
EnsemblGeneIds (GRCh37): ENSG00000206047
OMIM: 125220, Gene2Phenotype
DEFA1 is in 1 panel

2 reviews

Alison Coffey (Illumina Clinical Services Laboratory, Illumina Inc.)

I don't know

Evidence Summary from Illumina curation team: DEFA1, or HNP1, is a member of the defensin family of host defense peptides, a group of microbicidal and cytotoxic peptides made by neutrophils. Defensins are known to have a role in innate immunity as a core host-protective component against bacterial, viral and fungal infections (Xu and Wuyaun, 2020). Defensins have direct antiviral activity in cell culture, with varied mechanisms for individual viruses. Defensins also have a potent immunomodulatory activity that can alter innate and adaptive immune responses to viral infection and are able to target multiple steps of host-virus interactions to reduce infectivity of both enveloped and non-enveloped viruses. Targets include viral envelopes, glycoproteins, and capsids or host cells. DEFA1 is well-recognized for its direct anti-HIV activity, it also restrains HIV-1 uptake by inhibiting Env-mediated viral fusion and downregulating host cell surface expression of CD4 and coreceptor CXCR4. Post-entry inhibition of enveloped viruses such as HIV-1 and influenza by DEFA1 is mediated through interfering with cell signaling pathways such as PKC that are required for viral replication (Xu and Wuyaun, 2020). An unpublished study by Kit and Kit (2020), demonstrated in silico that the affinity of human alpha-defensins 1, 2, 3 and 5 to SARS-CoV-2 spike protein is higher than that of the SARS-CoV-2 spike protein towards ACE2. The authors suggest that these alpha-defensins may serve as primary factors in protecting lung tissue from COVID-19 viral infection.
Created: 28 May 2020, 3:12 p.m. | Last Modified: 28 May 2020, 3:12 p.m.
Panel Version: 0.347

Publications

Rebecca Foulger (Genomics England curator)

Identified through an OMIM search for potential viral susceptibility genes, and subsequently triaged/reviewed by Illumina curation team.
Created: 28 May 2020, 2:05 p.m. | Last Modified: 28 May 2020, 2:05 p.m.
Panel Version: 0.339

Details

Mode of Inheritance
Unknown
Sources
OMIM
125220
Clinvar variants
Variants in DEFA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 May 2020, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications

Rebecca Foulger (Genomics England curator)

gene: DEFA1 was added gene: DEFA1 was added to COVID-19 research. Sources: Expert list,OMIM,Expert Review Amber Mode of inheritance for gene: DEFA1 was set to Unknown Publications for gene: DEFA1 were set to 32457744