MSL2 Chromosome 3
MSL complex subunit 2
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What This Gene Does
Enables histone H2B ubiquitin ligase activity. Involved in DNA damage response and protein monoubiquitination. Located in nucleus. Part of MSL complex. Is active in chromatin. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"Ring finger proteins|MSL histone acetyltransferase complex"
Locus Type
gene with protein product
Location
3q22.3
Ensembl
ENSG00000174579
Associated Conditions (3)
Syndromic neurodevelopmental disorder
Karayol-Borroto-Haghshenas neurodevelopmental syndrome
Autism
Key Variants
RS2529547139
Conflicting classifications of pathogenicity
Syndromic neurodevelopmental disorder, Karayol-Borroto-Haghshenas neurodevelopmental syndrome, Syndromic neurodevelopmental disorder
Health Risk
RS2529548404
Pathogenic
Health Risk
RS2529548450
Pathogenic
Health Risk
RS2529663010
Pathogenic
Syndromic neurodevelopmental disorder, Syndromic neurodevelopmental disorder
Health Risk
RS1576352885
Pathogenic/Likely pathogenic
Autism, Karayol-Borroto-Haghshenas neurodevelopmental syndrome, Autism
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2529547139 | Health Risk | Conflicting classifications of pathogenicity | Syndromic neurodevelopmental disorder, Karayol-Borroto-Haghshenas neurodevelopmental syndrome, Syndromic neurodevelopmental disorder |
| RS2529548404 | Health Risk | Pathogenic | — |
| RS2529548450 | Health Risk | Pathogenic | — |
| RS2529663010 | Health Risk | Pathogenic | Syndromic neurodevelopmental disorder, Syndromic neurodevelopmental disorder |
| RS1576352885 | Health Risk | Pathogenic/Likely pathogenic | Autism, Karayol-Borroto-Haghshenas neurodevelopmental syndrome, Autism |