Aliases:
Chromosome No: 12
Chromosome Band: 12q24.22-q24.23
Genetic Category: Rare single gene variant
ASD Reports: 5
Recent Reports: 0
Annotated variants: 7
Associated CNVs: 4
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Whole-exome sequencing of 115 ASD trios from three countries with a high frequency of consanguineous populations (Pakistan, Iran, and Saudi Arabia) in Harripaul et al., 2026 identified a homozygous missense variant in the KSR2 gene (NM_173598.6:c.763C>T;p.Arg255Trp) in a male ASD proband from Iran. De novo variants in this gene, including a de novo loss-of-function variant, have been reported in ASD probands from the SPARK cohort and a Chinese ASD cohort (Zhou et al., 2022; Trost et al., 2022; Wang et al., 2023; Avila et al., 2026).
Molecular Function
Enables protein serine/threonine kinase activity. Predicted to be involved in Ras protein signal transduction; calcium-mediated signaling; and positive regulation of cold-induced thermogenesis. Predicted to act upstream of or within positive regulation of MAPK cascade. Predicted to be located in membrane. Predicted to be active in cytosol and plasma membrane.
External Links
