DNAH2 Chromosome 17
Dynein axonemal heavy chain 2
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What This Gene Does
Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. The axonemal dyneins, found in cilia and flagella, are components of the outer and inner dynein arms attached to the peripheral microtubule doublets. DNAH2 is an axonemal inner arm dynein heavy chain (Chapelin et al., 1997 [PubMed 9256245]).[supplied by OMIM, Mar 2008]
Gene Info
Gene Group
Dyneins, axonemal inner arm I1/f complex subunits
Locus Type
gene with protein product
Location
17p13.1
Ensembl
ENSG00000183914
Associated Conditions (3)
DNAH2-related disorder
Inborn genetic diseases
Spermatogenic failure 45
Key Variants
RS142532084
Conflicting classifications of pathogenicity
DNAH2-related disorder, Inborn genetic diseases, DNAH2-related disorder
Health Risk
RS150496167
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS564117935
Conflicting classifications of pathogenicity
DNAH2-related disorder, Spermatogenic failure 45, DNAH2-related disorder
Health Risk
RS2544249759
Likely pathogenic
Spermatogenic failure 45, Spermatogenic failure 45
Health Risk
RS1486243737
Pathogenic
Spermatogenic failure 45, Spermatogenic failure 45
Health Risk
RS201414958
Pathogenic
Spermatogenic failure 45, Spermatogenic failure 45
Health Risk
RS369801878
Pathogenic
Spermatogenic failure 45, Spermatogenic failure 45
Health Risk
RS545849987
Pathogenic
Spermatogenic failure 45, Spermatogenic failure 45
Health Risk
RS763882266
Pathogenic
Spermatogenic failure 45, Spermatogenic failure 45
Health Risk
RS773343805
Pathogenic
Spermatogenic failure 45, Spermatogenic failure 45
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142532084 | Health Risk | Conflicting classifications of pathogenicity | DNAH2-related disorder, Inborn genetic diseases, DNAH2-related disorder |
| RS150496167 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS564117935 | Health Risk | Conflicting classifications of pathogenicity | DNAH2-related disorder, Spermatogenic failure 45, DNAH2-related disorder |
| RS2544249759 | Health Risk | Likely pathogenic | Spermatogenic failure 45, Spermatogenic failure 45 |
| RS1486243737 | Health Risk | Pathogenic | Spermatogenic failure 45, Spermatogenic failure 45 |
| RS201414958 | Health Risk | Pathogenic | Spermatogenic failure 45, Spermatogenic failure 45 |
| RS369801878 | Health Risk | Pathogenic | Spermatogenic failure 45, Spermatogenic failure 45 |
| RS545849987 | Health Risk | Pathogenic | Spermatogenic failure 45, Spermatogenic failure 45 |
| RS763882266 | Health Risk | Pathogenic | Spermatogenic failure 45, Spermatogenic failure 45 |
| RS773343805 | Health Risk | Pathogenic | Spermatogenic failure 45, Spermatogenic failure 45 |