H3-3B Chromosome 17
H3.3 histone B
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What This Gene Does
Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene contains introns and its mRNA is polyadenylated, unlike most histone genes. The protein encoded by this gene is a replication-independent histone that is a member of the histone H3 family. Pseudogenes of this gene have been identified on the X chromosome, and on chromosomes 5, 13 and 17. [provided by RefSeq, Oct 2015]
Gene Info
Gene Group
"H3 histones|Proteins encoded by multiple genes"
Locus Type
gene with protein product
Location
17q25.1
Ensembl
ENSG00000132475
Associated Conditions (9)
Inborn genetic diseases
Bryant-Li-Bhoj neurodevelopmental syndrome 2
Delayed speech and language development
Brain imaging abnormality
Global developmental delay
Intellectual disability
Short stature
H3-3B-related disorder
Neurodevelopmental disorder
Key Variants
RS1555585486
Conflicting classifications of pathogenicity
Inborn genetic diseases, Bryant-Li-Bhoj neurodevelopmental syndrome 2, Inborn genetic diseases
Health Risk
RS1555585522
Conflicting classifications of pathogenicity
Inborn genetic diseases, Delayed speech and language development, Brain imaging abnormality
Health Risk
RS2061653458
Conflicting classifications of pathogenicity
Inborn genetic diseases, Brain imaging abnormality, Global developmental delay
Health Risk
RS11547391
Likely pathogenic
Health Risk
RS2143629918
Likely pathogenic
Intellectual disability, Global developmental delay, Brain imaging abnormality
Health Risk
RS2143631320
Likely pathogenic
Intellectual disability, Global developmental delay, Brain imaging abnormality
Health Risk
RS2143631415
Likely pathogenic
Brain imaging abnormality, Delayed speech and language development, Intellectual disability
Health Risk
RS2545910776
Likely pathogenic
Bryant-Li-Bhoj neurodevelopmental syndrome 2, Bryant-Li-Bhoj neurodevelopmental syndrome 2
Health Risk
RS2545911125
Likely pathogenic
Health Risk
RS2545911185
Likely pathogenic
Bryant-Li-Bhoj neurodevelopmental syndrome 2, Bryant-Li-Bhoj neurodevelopmental syndrome 2
Health Risk
RS2143629995
Pathogenic
Bryant-Li-Bhoj neurodevelopmental syndrome 2, Bryant-Li-Bhoj neurodevelopmental syndrome 2
Health Risk
RS2143631293
Pathogenic
Bryant-Li-Bhoj neurodevelopmental syndrome 2, Bryant-Li-Bhoj neurodevelopmental syndrome 2
Health Risk
All Variants (17)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1555585486 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Bryant-Li-Bhoj neurodevelopmental syndrome 2, Inborn genetic diseases |
| RS1555585522 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Delayed speech and language development, Brain imaging abnormality |
| RS2061653458 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Brain imaging abnormality, Global developmental delay |
| RS11547391 | Health Risk | Likely pathogenic | — |
| RS2143629918 | Health Risk | Likely pathogenic | Intellectual disability, Global developmental delay, Brain imaging abnormality |
| RS2143631320 | Health Risk | Likely pathogenic | Intellectual disability, Global developmental delay, Brain imaging abnormality |
| RS2143631415 | Health Risk | Likely pathogenic | Brain imaging abnormality, Delayed speech and language development, Intellectual disability |
| RS2545910776 | Health Risk | Likely pathogenic | Bryant-Li-Bhoj neurodevelopmental syndrome 2, Bryant-Li-Bhoj neurodevelopmental syndrome 2 |
| RS2545911125 | Health Risk | Likely pathogenic | — |
| RS2545911185 | Health Risk | Likely pathogenic | Bryant-Li-Bhoj neurodevelopmental syndrome 2, Bryant-Li-Bhoj neurodevelopmental syndrome 2 |
| RS2143629995 | Health Risk | Pathogenic | Bryant-Li-Bhoj neurodevelopmental syndrome 2, Bryant-Li-Bhoj neurodevelopmental syndrome 2 |
| RS2143631293 | Health Risk | Pathogenic | Bryant-Li-Bhoj neurodevelopmental syndrome 2, Bryant-Li-Bhoj neurodevelopmental syndrome 2 |
| RS2143631409 | Health Risk | Pathogenic | — |
| RS2143629984 | Health Risk | Pathogenic/Likely pathogenic | Bryant-Li-Bhoj neurodevelopmental syndrome 2, H3-3B-related disorder, Bryant-Li-Bhoj neurodevelopmental syndrome 2 |
| RS2143630846 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, Global developmental delay, Brain imaging abnormality |
| RS2143631260 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2545911172 | Health Risk | Pathogenic/Likely pathogenic | Bryant-Li-Bhoj neurodevelopmental syndrome 2, Bryant-Li-Bhoj neurodevelopmental syndrome 2 |