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COVID-19 research

Gene: KIAA0319L

Green List (high evidence)

KIAA0319L (KIAA0319 like)
EnsemblGeneIds (GRCh38): ENSG00000142687
EnsemblGeneIds (GRCh37): ENSG00000142687
OMIM: 613535, Gene2Phenotype
KIAA0319L is in 1 panel

2 reviews

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

Green List (high evidence)

Evidence Summary from Illumina curation team: KIAA0319L, also known as AAVR or AAVRL, encodes the KIAA0319 like protein, a type-I transmembrane protein which acts as an essential receptor for adeno-associated virus (AAV) and is involved in adeno-associated virus infection through endocytosis system (PMID 26814968: Pillay et al. 2016). Genetic ablation of AAVR renders a wide range of mammalian cell types highly resistant to AAV infection. Adeno-associated virus vectors are widely used in virus-based gene therapy because of their broad tissue tropism, non-pathogenic nature and low immunogenicity. PMID 26814968: Pillay et al. (2016) - used a haploid genetic screen to identify the type I transmembrane protein KIAA0319L as an essential receptor that mediates AAV entry and renamed this protein the AAV receptor (AAVR). The function of AAVR was confirmed by using CRISPRCas9 to knock out the receptor and by using anti-AAVR blocking antibodies; both treatments rendered cells highly resistant to AAV infection with several serotypes, including AAV2, which is the most commonly used serotype for gene therapy in clinical trials. Finally, Aavr knockout mice were more resistant to AAV-mediated gene therapy than mice that expressed AAVR. PMID 28679762: Pillay et al. (2017) - Further defines AAV-AAVR interactions, genetically and biochemically.
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, 12:36 p.m. | Last Modified: 28 May 2020, 12:36 p.m.
Panel Version: 0.336

Details

Mode of Inheritance
Unknown
Sources
OMIM
613535
Clinvar variants
Variants in KIAA0319L
Penetrance
None
Panels with this gene

History Filter Activity

28 May 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance

Rebecca Foulger (Genomics England curator)

gene: KIAA0319L was added gene: KIAA0319L was added to COVID-19 research. Sources: Expert list,OMIM,Expert Review Green Mode of inheritance for gene: KIAA0319L was set to Unknown