DNAH5 Chromosome 5
Dynein axonemal heavy chain 5
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What This Gene Does
This gene encodes a dynein protein, which is part of a microtubule-associated motor protein complex consisting of heavy, light, and intermediate chains. This protein is an axonemal heavy chain dynein. It functions as a force-generating protein with ATPase activity, whereby the release of ADP is thought to produce the force-producing power stroke. Mutations in this gene cause primary ciliary dyskinesia type 3, as well as Kartagener syndrome, which are both diseases due to ciliary defects. [provided by RefSeq, Oct 2009]
Gene Info
Gene Group
Dyneins, axonemal outer arm complex subunits
Locus Type
gene with protein product
Location
5p15.2
Ensembl
ENSG00000039139
Associated Conditions (20)
Primary ciliary dyskinesia 3
Primary ciliary dyskinesia
DNAH5-related disorder
Colon adenocarcinoma
Infertility disorder
Situs inversus
See cases
Uterine corpus endometrial carcinoma
Gastric cancer
Familial cancer of breast
Hepatocellular carcinoma
Respiratory ciliopathies including non-CF bronchiectasis
Primary Ciliary Dyskinesia (DNAH5-related)
Lung cancer
Heterotaxy
Kartagener syndrome
Inborn genetic diseases
Male infertility
Glycine encephalopathy 1
Primary ciliary dyskinesia 7
Key Variants
RS1000624148
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
Health Risk
RS1004254149
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS1015446414
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS1015850611
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS1024441903
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
Health Risk
RS1038607014
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS111912673
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
Health Risk
RS112124692
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 3, DNAH5-related disorder
Health Risk
RS112217391
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS112594597
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
Health Risk
RS112911055
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
Health Risk
RS113742238
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
Health Risk
All Variants (1418)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS769582678 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia 3, Primary ciliary dyskinesia |
| RS769691641 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia 3, Primary ciliary dyskinesia |
| RS771715883 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia 3, Primary ciliary dyskinesia |
| RS773208371 | Health Risk | Pathogenic/Likely pathogenic | Kartagener syndrome, Primary ciliary dyskinesia 3, Primary ciliary dyskinesia |
| RS773447251 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia 3, Primary ciliary dyskinesia, Primary ciliary dyskinesia 3 |
| RS77377082 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia 3, Primary ciliary dyskinesia |
| RS775866092 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia 3, Primary ciliary dyskinesia |
| RS776686983 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia 3, Respiratory ciliopathies including non-CF bronchiectasis |
| RS781469274 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia 3, Primary ciliary dyskinesia |
| RS781566109 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia 3, Primary ciliary dyskinesia |
| RS863224504 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, Respiratory ciliopathies including non-CF bronchiectasis, Primary ciliary dyskinesia 3 |
| RS868151020 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia 3, Primary ciliary dyskinesia |
| RS878854458 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia 3, Primary ciliary dyskinesia |
| RS886039500 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia 3, Primary ciliary dyskinesia |
| RS886059965 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia 3, Primary ciliary dyskinesia |
| RS916132038 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS981267400 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Primary ciliary dyskinesia, Primary ciliary dyskinesia 3 |
| RS988596344 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia 3, Primary ciliary dyskinesia |