BDP1 Chromosome 5
BDP1 general transcription factor IIIB subunit
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What This Gene Does
The product of this gene is a subunit of the TFIIIB transcription initiation complex, which recruits RNA polymerase III to target promoters in order to initiate transcription. The encoded protein localizes to concentrated aggregates in the nucleus, and is required for transcription from all three types of polymerase III promoters. It is phosphorylated by casein kinase II during mitosis, resulting in its release from chromatin and suppression of polymerase III transcription. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Myb/SANT domain containing|General transcription factor IIIB complex subunits"
Locus Type
gene with protein product
Location
5q13.2
Ensembl
ENSG00000145734
Associated Conditions (6)
Waardenburg syndrome
Acute myeloid leukemia
BDP1-related disorder
Hearing loss
autosomal recessive 112
Deafness
Key Variants
RS112823079
Conflicting classifications of pathogenicity
Waardenburg syndrome, Acute myeloid leukemia, Waardenburg syndrome
Health Risk
RS1446569235
Conflicting classifications of pathogenicity
Health Risk
RS187541686
Conflicting classifications of pathogenicity
BDP1-related disorder, BDP1-related disorder
Health Risk
RS187778306
Conflicting classifications of pathogenicity
BDP1-related disorder, BDP1-related disorder
Health Risk
RS199719765
Conflicting classifications of pathogenicity
Health Risk
RS199721728
Conflicting classifications of pathogenicity
Hearing loss, autosomal recessive 112, Hearing loss
Health Risk
RS199778972
Conflicting classifications of pathogenicity
Health Risk
RS200098601
Conflicting classifications of pathogenicity
BDP1-related disorder, BDP1-related disorder
Health Risk
RS200304584
Conflicting classifications of pathogenicity
BDP1-related disorder, BDP1-related disorder
Health Risk
RS200701950
Conflicting classifications of pathogenicity
Health Risk
RS201610494
Conflicting classifications of pathogenicity
Health Risk
RS201849167
Conflicting classifications of pathogenicity
BDP1-related disorder, BDP1-related disorder
Health Risk
All Variants (14)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS112823079 | Health Risk | Conflicting classifications of pathogenicity | Waardenburg syndrome, Acute myeloid leukemia, Waardenburg syndrome |
| RS1446569235 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS187541686 | Health Risk | Conflicting classifications of pathogenicity | BDP1-related disorder, BDP1-related disorder |
| RS187778306 | Health Risk | Conflicting classifications of pathogenicity | BDP1-related disorder, BDP1-related disorder |
| RS199719765 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199721728 | Health Risk | Conflicting classifications of pathogenicity | Hearing loss, autosomal recessive 112, Hearing loss |
| RS199778972 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200098601 | Health Risk | Conflicting classifications of pathogenicity | BDP1-related disorder, BDP1-related disorder |
| RS200304584 | Health Risk | Conflicting classifications of pathogenicity | BDP1-related disorder, BDP1-related disorder |
| RS200701950 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201610494 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201849167 | Health Risk | Conflicting classifications of pathogenicity | BDP1-related disorder, BDP1-related disorder |
| RS560053520 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1187285510 | Health Risk | Likely pathogenic | Deafness, Deafness |