Identity
HGNC
LOCATION
2p11.2
LOCUSID
ALIAS
DNHL1,Dnahc6,HL-2,HL2
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 1768
MIM: 603336
HGNC: 2951
Ensembl: ENSG00000115423
Variants:
dbSNP: 1768
ClinVar: 1768
TCGA: ENSG00000115423
COSMIC: DNAH6
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000115423 | ENST00000389394 | Q9C0G6 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Huntington's disease | KEGG | ko05016 |
| Huntington's disease | KEGG | hsa05016 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37594300 | 2024 | Novel variants in DNAH6 cause male infertility associated with multiple morphological abnormalities of the sperm flagella (MMAF) and ICSI outcomes. | 2 |
| 37594300 | 2024 | Novel variants in DNAH6 cause male infertility associated with multiple morphological abnormalities of the sperm flagella (MMAF) and ICSI outcomes. | 2 |
| 37424858 | 2023 | A novel frameshift mutation in DNAH6 associated with male infertility and asthenoteratozoospermia. | 0 |
| 37424858 | 2023 | A novel frameshift mutation in DNAH6 associated with male infertility and asthenoteratozoospermia. | 0 |
| 31676830 | 2019 | Identification of DNAH6 mutations in infertile men with multiple morphological abnormalities of the sperm flagella. | 29 |
| 31676830 | 2019 | Identification of DNAH6 mutations in infertile men with multiple morphological abnormalities of the sperm flagella. | 29 |
| 29323929 | 2018 | Variation in Cilia Protein Genes and Progression of Lung Disease in Cystic Fibrosis. | 7 |
| 29323929 | 2018 | Variation in Cilia Protein Genes and Progression of Lung Disease in Cystic Fibrosis. | 7 |
| 29019003 | 2017 | Role of Dynein Axonemal Heavy Chain 6 Gene Expression as a Possible Biomarker for Huntington's Disease: a Translational Study. | 2 |
| 29019003 | 2017 | Role of Dynein Axonemal Heavy Chain 6 Gene Expression as a Possible Biomarker for Huntington's Disease: a Translational Study. | 2 |
| 26918822 | 2016 | DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia. | 53 |
| 26918822 | 2016 | DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia. | 53 |
Citation
Dessen P
DNAH6 (dynein axonemal heavy chain 6)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/62553/dnah6-(dynein-axonemal-heavy-chain-6)
