Aliases:
Chromosome No: 10
Chromosome Band: 10p11.21
Genetic Category: Rare single gene variant
ASD Reports: 5
Recent Reports: 0
Annotated variants: 5
Associated CNVs: 4
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Genome sequencing of 50 ASD probands and their unaffected parents from a Qatari cohort in Ben-Mahmoud et al., 2024 identified a de novo missense variant in the CUL2 gene that was not in gnomAD or the Qatar Genome Project and was predicted to be damaging with a CADD score of 29.9 in a male ASD proband. Additional de novo variants in the CUL2 gene, including a de novo loss-of-function variant and two de novo missense variants (one of which had a CADD score > 25), were previously reported in ASD probands from the MSSNG cohort, the SPARK cohort, and a Chinese ASD cohort (Yuen et al., 2015; Zhou et al., 2022; Trost et al., 2022; Wang et al., 2023).
Molecular Function
Enables ubiquitin ligase complex scaffold activity and ubiquitin protein ligase binding activity. Involved in ubiquitin-dependent protein catabolic process via the C-end degron rule pathway. Located in nucleoplasm. Part of Cul2-RING ubiquitin ligase complex.
External Links
