Aliases: APK1, COVA1, tNOX
Chromosome No: X
Chromosome Band: Xq26.1
Genetic Category: Rare single gene variant-Genetic association/Rare single gene variant
ASD Reports: 2
Recent Reports: 0
Annotated variants: 5
Associated CNVs: 11
Evidence score: null
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Relevance to Autism
An X-chromosome-wide association (XWAS) study of 6,873 individuals with autism from MSSNG, SSC, and SPARK (5,639 males and 1,234 females) and 8,981 controls (3,911 males and 5,070 females) in Mendes et al., 2024 identified four intronic SNPs in the ENOX2 gene that reached the significance threshold for association (P < 1.07E-05) in a sex-stratified female-XWAS analysis; three of these SNPs also reached the significance threshold for association in an XWAS meta-analysis. Furthermore, rare predicted damaging SNVs (<0.1% frequency in gnomAD) in the ENOX2 gene were found to have a higher frequency in male ASD cases from MSSNG, SSC, and SPARK compared to other family members, while rare CNV deletions (<1% frequency in gnomAD) overlapping at least one exon of the ENOX2 gene were found to be enriched in ASD cases (female and both sexes combined) from these three cohorts compared to unaffected family members.
Molecular Function
This gene is a tumor-specific member of the ECTO-NOX family of genes that encode cell surface NADH oxidases. The encoded protein has two enzymatic activities: catalysis of hydroquinone or NADH oxidation, and protein disulfide interchange. The protein also displays prion-like properties.
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