DNAH2 dynein axonemal heavy chain 2
Gene ID: 146754, updated on 17-Sep-2024Gene type: protein coding
Also known as: DNHD3; DNAHC2; SPGF45
- See all available tests in GTR for this gene
- Go to complete Gene record for DNAH2
- Go to Variation Viewer for DNAH2 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. GeneReviews: Not available | |
| Spermatogenic failure 45 | See labs |
Genomic context
- Location:
- 17p13.1
- Sequence:
- Chromosome: 17; NC_000017.11 (7717744..7833742)
- Total number of exons:
- 93
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for DNAH2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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