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COVID-19 research

Gene: ATG5

Amber List (moderate evidence)

ATG5 (autophagy related 5)
EnsemblGeneIds (GRCh38): ENSG00000057663
EnsemblGeneIds (GRCh37): ENSG00000057663
OMIM: 604261, Gene2Phenotype
ATG5 is in 1 panel

2 reviews

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

I don't know

Evidence Summary from Illumina curation team: The ATG5 gene encodes a core autophagy protein which forms a complex with ATG12 and ATG16L that is important for autophagophore elongation. Autophagy plays a key antiviral role in various human infections by modulating different aspects of the immune response (Reviewed Tao et al. 2020; Ahmed et al.2018). ATG5 may play a role in cytokine regulation, in vitro, ATG5 depleted primary human blood macrophages produced lower levels of CXCL10 and IFNa when infected with influenza A virus (Law et al. 2007). ATG5 deficient mice also show reduced Ifn and Il22 secretion when infected with the single stranded RNA vesicular stomatitis virus (VSV) (Lee et al. 2007). Using a mouse model with a conditional depletion of ATG5 within dendritic cells, Lee et al. 2010 showed that ATG5 is required for antigen presentation by dendritic cells, as a result of reduced MHC-II antigen presentation, these mice, when intradermally injected with HSV-1, showed significantly lower IFNgamma production by CD4+ T cells. (Lee et al., 2010). The ATG5 complex is targeted by some viruses to enhance infection, for example, the foot and mouth disease virus (FMDV) targets the ATG5-ATG12 complex for degradation through its viral protein 3Cpro, similarly, depletion of ATG5 and ATG12 in vitro, by siRNA increased susceptibility to FMDV infection by reducing activation of the NF-?B and IRF3 pathways (Fan et al 2017).
Created: 28 May 2020, 3:12 p.m. | Last Modified: 28 May 2020, 3:12 p.m.
Panel Version: 0.347


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, 12:36 p.m. | Last Modified: 28 May 2020, 12:36 p.m.
Panel Version: 0.336


Mode of Inheritance
  • Expert Review Amber
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  • Expert list
Clinvar variants
Variants in ATG5
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History Filter Activity

28 May 2020, Gel status: 2

Created, Added New Source, Set mode of inheritance

Rebecca Foulger (Genomics England curator)

gene: ATG5 was added gene: ATG5 was added to COVID-19 research. Sources: Expert list,OMIM,Expert Review Amber Mode of inheritance for gene: ATG5 was set to Unknown