RBL2 Chromosome 16
RB transcriptional corepressor like 2
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What This Gene Does
Enables promoter-specific chromatin binding activity. Involved in regulation of lipid kinase activity. Acts upstream of or within negative regulation of gene expression. Located in chromosome; cytosol; and nuclear lumen. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
DREAM complex subunits
Locus Type
gene with protein product
Location
16q12.2
Ensembl
ENSG00000103479
Associated Conditions (1)
Brunet-Wagner neurodevelopmental syndrome
Key Variants
RS2150795233
Likely pathogenic
Brunet-Wagner neurodevelopmental syndrome, Brunet-Wagner neurodevelopmental syndrome
Health Risk
RS2153138545
Likely pathogenic
Brunet-Wagner neurodevelopmental syndrome, Brunet-Wagner neurodevelopmental syndrome
Health Risk
RS2506702087
Likely pathogenic
Brunet-Wagner neurodevelopmental syndrome, Brunet-Wagner neurodevelopmental syndrome
Health Risk
RS1401758241
Pathogenic
Brunet-Wagner neurodevelopmental syndrome, Brunet-Wagner neurodevelopmental syndrome
Health Risk
RS2058068934
Pathogenic
Brunet-Wagner neurodevelopmental syndrome, Brunet-Wagner neurodevelopmental syndrome
Health Risk
RS757065708
Pathogenic
Brunet-Wagner neurodevelopmental syndrome, Brunet-Wagner neurodevelopmental syndrome
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2150795233 | Health Risk | Likely pathogenic | Brunet-Wagner neurodevelopmental syndrome, Brunet-Wagner neurodevelopmental syndrome |
| RS2153138545 | Health Risk | Likely pathogenic | Brunet-Wagner neurodevelopmental syndrome, Brunet-Wagner neurodevelopmental syndrome |
| RS2506702087 | Health Risk | Likely pathogenic | Brunet-Wagner neurodevelopmental syndrome, Brunet-Wagner neurodevelopmental syndrome |
| RS1401758241 | Health Risk | Pathogenic | Brunet-Wagner neurodevelopmental syndrome, Brunet-Wagner neurodevelopmental syndrome |
| RS2058068934 | Health Risk | Pathogenic | Brunet-Wagner neurodevelopmental syndrome, Brunet-Wagner neurodevelopmental syndrome |
| RS757065708 | Health Risk | Pathogenic | Brunet-Wagner neurodevelopmental syndrome, Brunet-Wagner neurodevelopmental syndrome |