Identity
HGNC
LOCATION
5p15.2
LOCUSID
ALIAS
CILD3,DNAHC5,HL1,KTGNR,PCD
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: 1767
MIM: 603335
HGNC: 2950
Ensembl: ENSG00000039139
Variants:
dbSNP: 1767
ClinVar: 1767
TCGA: ENSG00000039139
COSMIC: DNAH5
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000039139 | ENST00000265104 | Q8TE73 |
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 |
|---|---|---|---|
| 36864285 | 2023 | Characteristic genetic spectrum of primary ciliary dyskinesia in Japanese patients and global ethnic heterogeneity: population-based genomic variation database analysis. | 3 |
| 38022557 | 2023 | Identification and validation of a prognostic-related mutant gene DNAH5 for hepatocellular carcinoma. | 0 |
| 36864285 | 2023 | Characteristic genetic spectrum of primary ciliary dyskinesia in Japanese patients and global ethnic heterogeneity: population-based genomic variation database analysis. | 3 |
| 38022557 | 2023 | Identification and validation of a prognostic-related mutant gene DNAH5 for hepatocellular carcinoma. | 0 |
| 34962988 | 2022 | Novel homozygous mutations of DNAH5 in Kartagener syndrome. | 1 |
| 35869121 | 2022 | Genome-wide association study in minority children with asthma implicates DNAH5 in bronchodilator responsiveness. | 5 |
| 35960414 | 2022 | DNAH5 gene and its correlation with linc02220 expression and sperm characteristics. | 1 |
| 34962988 | 2022 | Novel homozygous mutations of DNAH5 in Kartagener syndrome. | 1 |
| 35869121 | 2022 | Genome-wide association study in minority children with asthma implicates DNAH5 in bronchodilator responsiveness. | 5 |
| 35960414 | 2022 | DNAH5 gene and its correlation with linc02220 expression and sperm characteristics. | 1 |
| 33607172 | 2021 | Genome-wide association analysis of cognitive function in Danish long-lived individuals. | 1 |
| 34391405 | 2021 | Novel compound heterozygous mutations of DNAH5 identified in a pediatric patient with Kartagener syndrome: case report and literature review. | 4 |
| 33607172 | 2021 | Genome-wide association analysis of cognitive function in Danish long-lived individuals. | 1 |
| 34391405 | 2021 | Novel compound heterozygous mutations of DNAH5 identified in a pediatric patient with Kartagener syndrome: case report and literature review. | 4 |
| 32357925 | 2020 | Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report. | 3 |
Citation
Dessen P
DNAH5 (dynein axonemal heavy chain 5)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/62552/dnah5-(dynein-axonemal-heavy-chain-5)
