DRC2 Chromosome 12
Dynein regulatory complex subunit 2
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What This Gene Does
This gene encodes a sperm tail protein that is highly expressed in adult testis, spermatocytes and spermatids. The protein plays a critical role in the assembly of the nexin-dynein regulatory complex. Mutations in this gene result in primary ciliary dyskinesia. [provided by RefSeq, Nov 2013]
Gene Info
Gene Group
"Dynein regulatory complex|Cilia and flagella associated"
Locus Type
gene with protein product
Location
12q13.12
Ensembl
ENSG00000139537
Associated Conditions (4)
Primary ciliary dyskinesia 27
Respiratory ciliopathies including non-CF bronchiectasis
Inborn genetic diseases
Primary ciliary dyskinesia
Key Variants
RS140228766
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 27, Primary ciliary dyskinesia 27
Health Risk
RS142550817
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 27, Primary ciliary dyskinesia 27
Health Risk
RS759186574
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 27, Respiratory ciliopathies including non-CF bronchiectasis, Primary ciliary dyskinesia 27
Health Risk
RS890906368
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 27, Inborn genetic diseases, Primary ciliary dyskinesia 27
Health Risk
RS1434632385
Likely pathogenic
Primary ciliary dyskinesia 27, Primary ciliary dyskinesia 27
Health Risk
RS751672400
Likely pathogenic
Primary ciliary dyskinesia 27, Primary ciliary dyskinesia 27
Health Risk
RS1003676784
Pathogenic
Primary ciliary dyskinesia 27, Primary ciliary dyskinesia 27
Health Risk
RS1555174708
Pathogenic
Primary ciliary dyskinesia 27, Primary ciliary dyskinesia 27
Health Risk
RS1592227238
Pathogenic
Primary ciliary dyskinesia 27, Primary ciliary dyskinesia 27
Health Risk
RS2137545975
Pathogenic
Primary ciliary dyskinesia 27, Primary ciliary dyskinesia 27
Health Risk
RS2498822931
Pathogenic
Primary ciliary dyskinesia 27, Primary ciliary dyskinesia 27
Health Risk
RS2498836177
Pathogenic
Primary ciliary dyskinesia 27, Primary ciliary dyskinesia 27
Health Risk
All Variants (17)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140228766 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 27, Primary ciliary dyskinesia 27 |
| RS142550817 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 27, Primary ciliary dyskinesia 27 |
| RS759186574 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 27, Respiratory ciliopathies including non-CF bronchiectasis, Primary ciliary dyskinesia 27 |
| RS890906368 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 27, Inborn genetic diseases, Primary ciliary dyskinesia 27 |
| RS1434632385 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia 27, Primary ciliary dyskinesia 27 |
| RS751672400 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia 27, Primary ciliary dyskinesia 27 |
| RS1003676784 | Health Risk | Pathogenic | Primary ciliary dyskinesia 27, Primary ciliary dyskinesia 27 |
| RS1555174708 | Health Risk | Pathogenic | Primary ciliary dyskinesia 27, Primary ciliary dyskinesia 27 |
| RS1592227238 | Health Risk | Pathogenic | Primary ciliary dyskinesia 27, Primary ciliary dyskinesia 27 |
| RS2137545975 | Health Risk | Pathogenic | Primary ciliary dyskinesia 27, Primary ciliary dyskinesia 27 |
| RS2498822931 | Health Risk | Pathogenic | Primary ciliary dyskinesia 27, Primary ciliary dyskinesia 27 |
| RS2498836177 | Health Risk | Pathogenic | Primary ciliary dyskinesia 27, Primary ciliary dyskinesia 27 |
| RS2498844405 | Health Risk | Pathogenic | Primary ciliary dyskinesia 27, Primary ciliary dyskinesia 27 |
| RS749714265 | Health Risk | Pathogenic | Primary ciliary dyskinesia 27, Primary ciliary dyskinesia 27 |
| RS776979382 | Health Risk | Pathogenic | Primary ciliary dyskinesia 27, Primary ciliary dyskinesia 27 |
| RS948326397 | Health Risk | Pathogenic | Primary ciliary dyskinesia 27, Primary ciliary dyskinesia 27 |
| RS863223325 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia 27, Primary ciliary dyskinesia, Primary ciliary dyskinesia 27 |