MSL2
Homo sapiens
Gene Name: MSL complex subunit 2
Aliases: MSL-2L1, RNF184,MSL2
Chromosome No: 3
Chromosome Band: 3q22.3
Genetic Category: Rare single gene variant
Aliases: MSL-2L1, RNF184,MSL2
Chromosome No: 3
Chromosome Band: 3q22.3
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 5
Recent Reports: 0
Annotated variants: 9
Associated CNVs: 4
Evidence score: 3
ASD Reports: 5
Recent Reports: 0
Annotated variants: 9
Associated CNVs: 4
Evidence score: 3
| Associated Disorders: |
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Relevance to Autism
Multiple de novo variants in the MSL2 gene, including two de novo loss-of-function variants and several de novo missense variants, have been identified in ASD probands (Iossifov et al., 2014; Zhou et al., 2022; Trost et al., 2022; Costa et al., 2023). Two de novo loss-of-function variants in this gene were also identified in Chinese NDD probands (Zhang et al., 2021).
Molecular Function
Predicted to enable ubiquitin protein ligase activity. Involved in histone H4-K16 acetylation. Part of MSL complex.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Support
Genomic architecture of autism from comprehensive whole-genome sequence annotation
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
