ENOX2ecto-NOX disulfide-thiol exchanger 2
Autism Reports / Total Reports
2 / 2Rare Variants / Common Variants
1 / 4Aliases
-Associated Syndromes
-Chromosome Band
Xq26.1Associated Disorders
-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.
External Links
SFARI Genomic Platforms
Reports related to ENOX2 (2 Reports)
# | Type | Title | Author, Year | Autism Report | Associated Disorders |
---|---|---|---|---|---|
1 | Support | - | Ashlesha Gogate et al. (2024) | Yes | - |
2 | Primary | - | Marla Mendes et al. (2025) | Yes | - |
Rare Variants (1)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
c.818G>A | p.Arg273His | missense_variant | Familial | Maternal | Multiplex | 39632905 | Ashlesha Gogate et al. (2024) |
Common Variants (4)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Paternal Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
c.97+2748C>T | - | intron_variant | - | - | - | 39706197 | Marla Mendes et al. (2025) | |
c.-38-19370T>C | - | intron_variant | - | - | - | 39706197 | Marla Mendes et al. (2025) | |
c.-182-39395A>G | - | intron_variant | - | - | - | 39706197 | Marla Mendes et al. (2025) | |
c.-183+58785del | - | intron_variant | - | - | - | 39706197 | Marla Mendes et al. (2025) |
SFARI Gene score
Suggestive Evidence


criteria met
See SFARI Gene'scoring criteriaThe literature is replete with relatively small studies of candidate genes, using either common or rare variant approaches, which do not reach the criteria set out for categories 1 and 2. Genes that had two such lines of supporting evidence were placed in category 3, and those with one line of evidence were placed in category 4. Some additional lines of "accessory evidence" (indicated as "acc" in the score cards) could also boost a gene from category 4 to 3.
4/1/2025
Initial score established: 3
Krishnan Probability Score
Score 0.45611520328318
Ranking 9930/25841 scored genes
[Show Scoring Methodology]
ExAC Score
Score 0.0031455506957032
Ranking 10948/18225 scored genes
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Sanders TADA Score
Score 0.93824780679085
Ranking 13798/18665 scored genes
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Zhang D Score
Score 0.003590712596412
Ranking 8578/20870 scored genes
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