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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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DNAH5
dynein axonemal heavy chain 5
Chromosome 5 Β· 5p15.2
NCBI Gene: 1767Ensembl: ENSG00000039139.11HGNC: HGNC:2950UniProt: Q8TE73
70PubMed Papers
21Diseases
0Drugs
1,101Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
axonememotile ciliumouter dynein arm assemblycilium assemblyprimary ciliary dyskinesiaHeterotaxygenetic disorderbronchiectasis
✦AI Summary

DNAH5 (dynein axonemal heavy chain 5) encodes a motor protein essential for ciliary motility, functioning as a component of the outer dynein arm that generates force toward microtubule minus ends through ATP hydrolysis 1. The protein is critical for coordinated beating of respiratory cilia and ependymal cilia lining brain ventricles, and is also required for normal sperm flagellar motility 2. DNAH5 mutations are a common cause of primary ciliary dyskinesia (PCD), an autosomal recessive disorder characterized by recurrent airway infections and situs inversus totalis 1. Mutations result in outer dynein arm defects visible on electron microscopy, with mutant protein mislocalizing to microtubule organizing centers rather than assembling properly in the ciliary axoneme 1. DNAH5 mutations account for approximately 9-15% of PCD cases globally, with distinct geographic founder mutations such as c.10815delT in North America and c.8030G>A in Asia 3. Clinically, patients with biallelic truncating DNAH5 variants present earlier with more severe disease, including neonatal respiratory distress and worse lung function decline compared to missense variant carriers 3. In infertile males, reduced DNAH5 expression correlates with asthenozoospermia and terato-asthenozoospermia, regulated inversely by linc02220 lncRNA 2. Notably, DNAH5 mutations are associated with better clinical outcomes than mutations in other ciliary genes like CCDC39/40 4.

Sources cited
1
DNAH5 mutations cause outer dynein arm defects in PCD and are frequently identified in PCD patients; mutant protein mislocalizes to microtubule organizing centers
PMID: 16627867
2
DNAH5 expression is essential for sperm motility and is downregulated in asthenozoospermia and terato-asthenozoospermia, inversely regulated by linc02220
PMID: 35960414
3
DNAH5 mutations account for ~9-15% of PCD cases; biallelic truncating variants cause earlier disease onset and worse lung function than missense variants
PMID: 40033371
4
DNAH5 mutations are associated with better lung function outcomes compared to CCDC39/40 mutations in PCD patients
PMID: 30067075
5
DNAH5 is the second most commonly mutated gene (9/51 patients) in a cohort of PCD cases from China
PMID: 33577779
Disease Associationsβ“˜21
primary ciliary dyskinesiaOpen Targets
0.80Strong
HeterotaxyOpen Targets
0.51Moderate
genetic disorderOpen Targets
0.49Moderate
bronchiectasisOpen Targets
0.47Moderate
visceral heterotaxyOpen Targets
0.44Moderate
situs inversusOpen Targets
0.41Moderate
infertilityOpen Targets
0.38Weak
alcohol drinkingOpen Targets
0.37Weak
glycine encephalopathy 1Open Targets
0.34Weak
male infertilityOpen Targets
0.34Weak
Kartagener SyndromeOpen Targets
0.33Weak
sign or symptomOpen Targets
0.29Weak
cardiomyopathyOpen Targets
0.25Weak
astrocytomaOpen Targets
0.20Weak
temporomandibular joint disorderOpen Targets
0.20Weak
pancreatic carcinomaOpen Targets
0.19Weak
HypocalcemiaOpen Targets
0.17Weak
tooth diseaseOpen Targets
0.17Weak
clavicle fractureOpen Targets
0.17Weak
shoulder fractureOpen Targets
0.17Weak
Ciliary dyskinesia, primary, 3UniProt
Pathogenic Variants1,101
NM_001369.3(DNAH5):c.8311C>T (p.Arg2771Cys)Pathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 3|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 2771
NM_001369.3(DNAH5):c.10441C>T (p.Arg3481Ter)Pathogenic
not provided|Primary ciliary dyskinesia|Primary ciliary dyskinesia 3
β˜…β˜…β˜†β˜†2026β†’ Residue 3481
NM_001369.3(DNAH5):c.7096C>T (p.Arg2366Trp)Pathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 3
β˜…β˜…β˜†β˜†2026β†’ Residue 2366
NM_001369.3(DNAH5):c.4084C>T (p.Gln1362Ter)Pathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 3
β˜…β˜…β˜†β˜†2026β†’ Residue 1362
NM_001369.3(DNAH5):c.4360C>T (p.Arg1454Ter)Pathogenic
Primary ciliary dyskinesia|DNAH5-related disorder|Primary ciliary dyskinesia 3
β˜…β˜…β˜†β˜†2026β†’ Residue 1454
NM_001369.3(DNAH5):c.5647C>T (p.Arg1883Ter)Pathogenic
not provided|Primary ciliary dyskinesia|DNAH5-related disorder|Primary ciliary dyskinesia 3
β˜…β˜…β˜†β˜†2026β†’ Residue 1883
NM_001369.3(DNAH5):c.8383C>T (p.Arg2795Ter)Pathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 3
β˜…β˜…β˜†β˜†2026β†’ Residue 2795
NM_001369.3(DNAH5):c.7915C>T (p.Arg2639Ter)Pathogenic
Inborn genetic diseases|Primary ciliary dyskinesia|Primary ciliary dyskinesia 3
β˜…β˜…β˜†β˜†2026β†’ Residue 2639
NM_001369.3(DNAH5):c.3905del (p.Leu1302fs)Pathogenic
Primary ciliary dyskinesia|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 1302
NM_001369.3(DNAH5):c.8314C>T (p.Arg2772Ter)Pathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 3|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 2772
NM_001369.3(DNAH5):c.1852C>T (p.Arg618Ter)Pathogenic
Primary ciliary dyskinesia|not provided|Primary ciliary dyskinesia 3|Primary ciliary dyskinesia 7
β˜…β˜…β˜†β˜†2026β†’ Residue 618
NM_001369.3(DNAH5):c.6427G>T (p.Glu2143Ter)Pathogenic
not provided|Primary ciliary dyskinesia
β˜…β˜…β˜†β˜†2026β†’ Residue 2143
NM_001369.3(DNAH5):c.9694C>T (p.Gln3232Ter)Pathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 3
β˜…β˜…β˜†β˜†2026β†’ Residue 3232
NM_001369.3(DNAH5):c.9065C>A (p.Ser3022Ter)Pathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 3
β˜…β˜…β˜†β˜†2026β†’ Residue 3022
NM_001369.3(DNAH5):c.5665_5666del (p.Leu1889fs)Pathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 3|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 1889
NM_001369.3(DNAH5):c.2744-2A>TLikely pathogenic
Primary ciliary dyskinesia
β˜…β˜…β˜†β˜†2026
NM_001369.3(DNAH5):c.12287G>A (p.Trp4096Ter)Pathogenic
Primary ciliary dyskinesia
β˜…β˜…β˜†β˜†2026β†’ Residue 4096
NM_001369.3(DNAH5):c.5563dup (p.Ile1855fs)Pathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 3|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 1855
NM_001369.3(DNAH5):c.8404C>T (p.Gln2802Ter)Pathogenic
Primary ciliary dyskinesia|not provided|Respiratory ciliopathies including non-CF bronchiectasis|Primary ciliary dyskinesia 3
β˜…β˜…β˜†β˜†2026β†’ Residue 2802
NM_001369.3(DNAH5):c.6037C>T (p.Arg2013Ter)Pathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 3
β˜…β˜…β˜†β˜†2026β†’ Residue 2013
View on ClinVar β†—
Related Genes
RSPH1Protein interaction99%NME8Protein interaction98%DNAI4Protein interaction98%DRC2Protein interaction98%DNAI3Protein interaction98%CFAP70Protein interaction92%
Tissue Expression6 tissues
Liver
100%
Lung
80%
Brain
25%
Heart
3%
Ovary
2%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
DNAH5RSPH1NME8DNAI4DRC2DNAI3CFAP70
PROTEIN STRUCTURE
Preparing viewer…
PDB8J07 Β· 4.10 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.76LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.70 [0.64–0.76]
RankingsWhere DNAH5 stands among ~20K protein-coding genes
  • #6,710of 20,598
    Most Researched70
  • #28of 5,498
    Most Pathogenic Variants1,101 Β· top 1%
  • #6,148of 17,882
    Most Constrained (LOEUF)0.76
Genes detectedDNAH5
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Clinical and Genetic Spectrum of Children With Primary Ciliary Dyskinesia in China.
PMID: 33577779
Chest Β· 2021
1.00
2
DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.
PMID: 16627867
Am J Respir Crit Care Med Β· 2006
0.90
3
DNAH5 gene and its correlation with linc02220 expression and sperm characteristics.
PMID: 35960414
Mol Biol Rep Β· 2022
0.80
4
Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype.
PMID: 30067075
Am J Respir Crit Care Med Β· 2019
0.70
5
Identification and validation of a prognostic-related mutant gene
PMID: 38022557
Front Immunol Β· 2023
0.60