DRC4 Chromosome 16
Dynein regulatory complex subunit 4
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What This Gene Does
This gene includes 11 exons spanning 25 kb and maps to a region of chromosome 16 that is sometimes deleted in breast and prostrate cancer. The second intron contains an apparently intronless gene, C16orf3, that is transcribed in the opposite orientation. This gene is a putative tumor suppressor gene. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]
Gene Info
Gene Group
Dynein regulatory complex
Locus Type
gene with protein product
Location
16q24.3
Ensembl
ENSG00000141013
Associated Conditions (4)
Primary ciliary dyskinesia 33
GAS8-related disorder
Familial cancer of breast
Inborn genetic diseases
Key Variants
RS139167960
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 33, GAS8-related disorder, Primary ciliary dyskinesia 33
Health Risk
RS140344685
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 33, Familial cancer of breast, Primary ciliary dyskinesia 33
Health Risk
RS141125763
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 33, Inborn genetic diseases, Primary ciliary dyskinesia 33
Health Risk
RS141234041
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 33, Primary ciliary dyskinesia 33
Health Risk
RS142379631
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 33, Primary ciliary dyskinesia 33
Health Risk
RS147628922
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 33, Inborn genetic diseases, Primary ciliary dyskinesia 33
Health Risk
RS755682241
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 33, Primary ciliary dyskinesia 33
Health Risk
RS780805985
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 33, Inborn genetic diseases, Primary ciliary dyskinesia 33
Health Risk
RS2543473366
Likely pathogenic
Primary ciliary dyskinesia 33, Primary ciliary dyskinesia 33
Health Risk
RS778438857
Likely pathogenic
Primary ciliary dyskinesia 33, Primary ciliary dyskinesia 33
Health Risk
RS781317147
Likely pathogenic
Primary ciliary dyskinesia 33, Primary ciliary dyskinesia 33
Health Risk
RS1174065588
Pathogenic
Primary ciliary dyskinesia 33, Primary ciliary dyskinesia 33
Health Risk
All Variants (18)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139167960 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 33, GAS8-related disorder, Primary ciliary dyskinesia 33 |
| RS140344685 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 33, Familial cancer of breast, Primary ciliary dyskinesia 33 |
| RS141125763 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 33, Inborn genetic diseases, Primary ciliary dyskinesia 33 |
| RS141234041 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 33, Primary ciliary dyskinesia 33 |
| RS142379631 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 33, Primary ciliary dyskinesia 33 |
| RS147628922 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 33, Inborn genetic diseases, Primary ciliary dyskinesia 33 |
| RS755682241 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 33, Primary ciliary dyskinesia 33 |
| RS780805985 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 33, Inborn genetic diseases, Primary ciliary dyskinesia 33 |
| RS2543473366 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia 33, Primary ciliary dyskinesia 33 |
| RS778438857 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia 33, Primary ciliary dyskinesia 33 |
| RS781317147 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia 33, Primary ciliary dyskinesia 33 |
| RS1174065588 | Health Risk | Pathogenic | Primary ciliary dyskinesia 33, Primary ciliary dyskinesia 33 |
| RS143809463 | Health Risk | Pathogenic | Primary ciliary dyskinesia 33, Primary ciliary dyskinesia 33 |
| RS2543466489 | Health Risk | Pathogenic | Primary ciliary dyskinesia 33, Primary ciliary dyskinesia 33 |
| RS566755911 | Health Risk | Pathogenic | Primary ciliary dyskinesia 33, GAS8-related disorder, Primary ciliary dyskinesia 33 |
| RS755553133 | Health Risk | Pathogenic | Primary ciliary dyskinesia 33, Primary ciliary dyskinesia 33 |
| RS765877577 | Health Risk | Pathogenic | Primary ciliary dyskinesia 33, Primary ciliary dyskinesia 33 |
| RS909318705 | Health Risk | Pathogenic | Primary ciliary dyskinesia 33, Primary ciliary dyskinesia 33 |