BAZ2B Chromosome 2
Bromodomain adjacent to zinc finger domain 2B
Upload your DNA to see your personal genotypes for variants in BAZ2B.
What This Gene Does
This gene belongs to the bromodomain gene family. Members of this gene family encode proteins that are integral components of chromatin remodeling complexes. The encoded protein showed strong preference for the activating H3K14Ac mark in a histone peptide screen, suggesting a potential role in transcriptional activation. This gene may be associated with susceptibility to sudden cardiac death (SCD). [provided by RefSeq, Aug 2016]
Gene Info
Gene Group
"PHD finger proteins|Methyl-CpG binding domain containing|Bromodomain containing"
Locus Type
gene with protein product
Location
2q24.2
Ensembl
ENSG00000123636
Associated Conditions (6)
Neurodevelopmental disorder
Inborn genetic diseases
See cases
BAZ2B-related disorder
BAZ2B-related Neurodevelopmental disorder
BAZ2B-associated neurodevelopmental disorder
Key Variants
RS199640978
Conflicting classifications of pathogenicity
Neurodevelopmental disorder, Inborn genetic diseases, Neurodevelopmental disorder
Health Risk
RS2546823502
Conflicting classifications of pathogenicity
See cases, BAZ2B-related disorder, See cases
Health Risk
RS369373868
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1296034887
Likely pathogenic
BAZ2B-related disorder, BAZ2B-related disorder
Health Risk
RS2149674650
Likely pathogenic
Health Risk
RS2149798268
Likely pathogenic
BAZ2B-related Neurodevelopmental disorder, BAZ2B-related Neurodevelopmental disorder
Health Risk
RS2471337904
Likely pathogenic
BAZ2B-associated neurodevelopmental disorder, BAZ2B-associated neurodevelopmental disorder
Health Risk
RS2546822495
Likely pathogenic
BAZ2B-related disorder, BAZ2B-related disorder
Health Risk
RS2546860508
Likely pathogenic
BAZ2B-related Neurodevelopmental disorder, BAZ2B-related Neurodevelopmental disorder
Health Risk
RS2547061538
Likely pathogenic
BAZ2B-related disorder, BAZ2B-related disorder
Health Risk
RS1575883384
Pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS1576949430
Pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS199640978 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder, Inborn genetic diseases, Neurodevelopmental disorder |
| RS2546823502 | Health Risk | Conflicting classifications of pathogenicity | See cases, BAZ2B-related disorder, See cases |
| RS369373868 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1296034887 | Health Risk | Likely pathogenic | BAZ2B-related disorder, BAZ2B-related disorder |
| RS2149674650 | Health Risk | Likely pathogenic | — |
| RS2149798268 | Health Risk | Likely pathogenic | BAZ2B-related Neurodevelopmental disorder, BAZ2B-related Neurodevelopmental disorder |
| RS2471337904 | Health Risk | Likely pathogenic | BAZ2B-associated neurodevelopmental disorder, BAZ2B-associated neurodevelopmental disorder |
| RS2546822495 | Health Risk | Likely pathogenic | BAZ2B-related disorder, BAZ2B-related disorder |
| RS2546860508 | Health Risk | Likely pathogenic | BAZ2B-related Neurodevelopmental disorder, BAZ2B-related Neurodevelopmental disorder |
| RS2547061538 | Health Risk | Likely pathogenic | BAZ2B-related disorder, BAZ2B-related disorder |
| RS1575883384 | Health Risk | Pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS1576949430 | Health Risk | Pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2546859168 | Health Risk | Pathogenic | BAZ2B-related disorder, BAZ2B-related disorder |
| RS780189423 | Health Risk | Pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2547457958 | Health Risk | Pathogenic/Likely pathogenic | BAZ2B-related disorder, BAZ2B-related disorder |