BRD4 Chromosome 19
Bromodomain containing 4
Upload your DNA to see your personal genotypes for variants in BRD4.
What This Gene Does
The protein encoded by this gene is homologous to the murine protein MCAP, which associates with chromosomes during mitosis, and to the human RING3 protein, a serine/threonine kinase. Each of these proteins contains two bromodomains, a conserved sequence motif which may be involved in chromatin targeting. This gene has been implicated as the chromosome 19 target of translocation t(15;19)(q13;p13.1), which defines an upper respiratory tract carcinoma in young people. Two alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Bromodomain and extra-terminal domain family|Bromodomain containing"
Locus Type
gene with protein product
Location
19p13.12
Ensembl
ENSG00000141867
Associated Conditions (13)
Inborn genetic diseases
Short stature
Cornelia de Lange syndrome 6
Syndromic intellectual disability
See cases
Cornelia de Lange-like syndrome
Mental disorder
De Lange syndrome
Thyroid cancer
nonmedullary
1
Uterine corpus endometrial carcinoma
Intellectual disability
Key Variants
RS145334204
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS199839337
Conflicting classifications of pathogenicity
Health Risk
RS201063437
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS202038315
Conflicting classifications of pathogenicity
Health Risk
RS202093296
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS45500091
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS536634033
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS567279673
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS749338434
Conflicting classifications of pathogenicity
Health Risk
RS752951417
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1568383758
Likely pathogenic
Short stature, Short stature
Health Risk
RS1599473950
Likely pathogenic
Short stature, Short stature
Health Risk
All Variants (30)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS145334204 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS199839337 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201063437 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS202038315 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS202093296 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS45500091 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS536634033 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS567279673 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS749338434 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS752951417 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1568383758 | Health Risk | Likely pathogenic | Short stature, Short stature |
| RS1599473950 | Health Risk | Likely pathogenic | Short stature, Short stature |
| RS2047523428 | Health Risk | Likely pathogenic | Cornelia de Lange syndrome 6, Cornelia de Lange syndrome 6 |
| RS2145499914 | Health Risk | Likely pathogenic | Syndromic intellectual disability, Syndromic intellectual disability |
| RS2145613555 | Health Risk | Likely pathogenic | — |
| RS2512556114 | Health Risk | Likely pathogenic | — |
| RS2512579975 | Health Risk | Likely pathogenic | See cases, Cornelia de Lange syndrome 6, See cases |
| RS2512705724 | Health Risk | Likely pathogenic | Cornelia de Lange syndrome 6, Cornelia de Lange syndrome 6 |
| RS2512706092 | Health Risk | Likely pathogenic | Cornelia de Lange-like syndrome, Cornelia de Lange-like syndrome |
| RS752500721 | Health Risk | Likely pathogenic | Mental disorder, Mental disorder |
| RS868796773 | Health Risk | Likely pathogenic | Cornelia de Lange syndrome 6, Cornelia de Lange syndrome 6 |
| RS1373040209 | Health Risk | Pathogenic | — |
| RS2047560187 | Health Risk | Pathogenic | — |
| RS2145497734 | Health Risk | Pathogenic | De Lange syndrome, Thyroid cancer, nonmedullary |
| RS2512556946 | Health Risk | Pathogenic | — |
| RS2512580369 | Health Risk | Pathogenic | Cornelia de Lange syndrome 6, Cornelia de Lange syndrome 6 |
| RS2512703983 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |
| RS2512704609 | Health Risk | Pathogenic | — |
| RS2512711994 | Health Risk | Pathogenic | Cornelia de Lange syndrome 6, Cornelia de Lange syndrome 6 |
| RS780128218 | Health Risk | Pathogenic | — |