DNAH5 (dynein axonemal heavy chain 5)

2014-11-01  

Identity

HGNC
LOCATION
5p15.2
LOCUSID
ALIAS
CILD3,DNAHC5,HL1,KTGNR,PCD
FUSION GENES

Other Information

Locus ID:

NCBI: 1767
MIM: 603335
HGNC: 2950
Ensembl: ENSG00000039139

Variants:

dbSNP: 1767
ClinVar: 1767
TCGA: ENSG00000039139
COSMIC: DNAH5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000039139ENST00000265104Q8TE73

Expression (GTEx)

0
1
2
3
4

Pathways

PathwaySourceExternal ID
Huntington's diseaseKEGGko05016
Huntington's diseaseKEGGhsa05016

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
368642852023Characteristic genetic spectrum of primary ciliary dyskinesia in Japanese patients and global ethnic heterogeneity: population-based genomic variation database analysis.3
380225572023Identification and validation of a prognostic-related mutant gene DNAH5 for hepatocellular carcinoma.0
368642852023Characteristic genetic spectrum of primary ciliary dyskinesia in Japanese patients and global ethnic heterogeneity: population-based genomic variation database analysis.3
380225572023Identification and validation of a prognostic-related mutant gene DNAH5 for hepatocellular carcinoma.0
349629882022Novel homozygous mutations of DNAH5 in Kartagener syndrome.1
358691212022Genome-wide association study in minority children with asthma implicates DNAH5 in bronchodilator responsiveness.5
359604142022DNAH5 gene and its correlation with linc02220 expression and sperm characteristics.1
349629882022Novel homozygous mutations of DNAH5 in Kartagener syndrome.1
358691212022Genome-wide association study in minority children with asthma implicates DNAH5 in bronchodilator responsiveness.5
359604142022DNAH5 gene and its correlation with linc02220 expression and sperm characteristics.1
336071722021Genome-wide association analysis of cognitive function in Danish long-lived individuals.1
343914052021Novel compound heterozygous mutations of DNAH5 identified in a pediatric patient with Kartagener syndrome: case report and literature review.4
336071722021Genome-wide association analysis of cognitive function in Danish long-lived individuals.1
343914052021Novel compound heterozygous mutations of DNAH5 identified in a pediatric patient with Kartagener syndrome: case report and literature review.4
323579252020Rare 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/tumors-explorer/gene-fusions/?id=62552