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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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DNAH9
dynein axonemal heavy chain 9
Chromosome 17 Β· 17p12
NCBI Gene: 1770Ensembl: ENSG00000007174.18HGNC: HGNC:2953UniProt: Q99499
47PubMed Papers
21Diseases
0Drugs
158Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingcilium movementaxoneme9+2 motile ciliumciliary dyskinesia, primary, 40primary ciliary dyskinesiacongenital heart diseaseSitus inversus totalis
✦AI Summary

DNAH9 (dynein axonemal heavy chain 9) is a force-generating motor protein essential for ciliary and flagellar motility. As a component of the outer dynein arm complex, DNAH9 generates force directed toward the minus ends of microtubules through ATPase activity, with force production occurring upon ADP release 12. This motor activity is critical for maintaining structural and functional integrity of cilia in respiratory epithelia and flagella in spermatozoa 12. Clinically, DNAH9 mutations cause primary ciliary dyskinesia (PCD), characterized by impaired mucociliary clearance leading to recurrent respiratory infections, progressive lung dysfunction, and outer dynein arm ultrastructural defects 3. Disease-causing variants result in diminished DNAH9 protein expression and defective flagellar ultrastructure 4. Beyond PCD, DNAH9 mutations associate with male infertility through severe asthenospermia (reduced sperm motility) 54, hypospadias 6, post-infectious bronchiolitis obliterans in children 7, and germline predisposition to myeloid malignancies 89. Dnah9 knockout mice and airway organoid models successfully recapitulate human ciliopathy phenotypes, providing platforms for therapeutic screening 3. Gene-environment interactions with early tobacco smoke exposure modulate bronchial hyperresponsiveness 10.

Sources cited
1
Clinically, DNAH9 mutations cause primary ciliary dyskinesia (PCD), characterized by impaired mucociliary clearance leading to recurrent respiratory infections, progressive lung dysfunction, and outer dynein arm ultrastructural defects .
PMID: 35729109
2
Disease-causing variants result in diminished DNAH9 protein expression and defective flagellar ultrastructure .
PMID: 39523437
3
Beyond PCD, DNAH9 mutations associate with male infertility through severe asthenospermia (reduced sperm motility) , , hypospadias , post-infectious bronchiolitis obliterans in children , and germline predisposition to myeloid malignancies , .
PMID: 37168556
4
Beyond PCD, DNAH9 mutations associate with male infertility through severe asthenospermia (reduced sperm motility) , , hypospadias , post-infectious bronchiolitis obliterans in children , and germline predisposition to myeloid malignancies , .
PMID: 40065384
5
Gene-environment interactions with early tobacco smoke exposure modulate bronchial hyperresponsiveness .
PMID: 26797031
Disease Associationsβ“˜21
ciliary dyskinesia, primary, 40Open Targets
0.80Strong
primary ciliary dyskinesiaOpen Targets
0.50Moderate
congenital heart diseaseOpen Targets
0.42Moderate
Situs inversus totalisOpen Targets
0.37Weak
visceral heterotaxyOpen Targets
0.37Weak
Non-immune hydrops fetalisOpen Targets
0.34Weak
alcohol drinkingOpen Targets
0.34Weak
HydrocephalusOpen Targets
0.32Weak
sialolithiasisOpen Targets
0.32Weak
type 1 diabetes mellitusOpen Targets
0.29Weak
Abnormality of the cardiovascular systemOpen Targets
0.29Weak
invasive mechanical ventilationOpen Targets
0.28Weak
hemolytic anemiaOpen Targets
0.28Weak
ciliary dyskinesia, primary, 50Open Targets
0.27Weak
pregnancy disorderOpen Targets
0.25Weak
eye injuryOpen Targets
0.24Weak
genetic disorderOpen Targets
0.19Weak
minimally differentiated acute myeloblastic leukemiaOpen Targets
0.18Weak
placenta praeviaOpen Targets
0.18Weak
cervical carcinomaOpen Targets
0.18Weak
Ciliary dyskinesia, primary, 40UniProt
Pathogenic Variants158
NM_001372.4(DNAH9):c.3796C>T (p.Gln1266Ter)Pathogenic
not provided|Fetal anomalies with a likely genetic cause
β˜…β˜…β˜†β˜†2026β†’ Residue 1266
NM_001372.4(DNAH9):c.12320_12323del (p.Tyr4107fs)Pathogenic
not provided|Ciliary dyskinesia, primary, 40
β˜…β˜…β˜†β˜†2026β†’ Residue 4107
NM_001372.4(DNAH9):c.308dup (p.Leu104fs)Pathogenic
Abnormal cardiovascular system morphology|Ciliary dyskinesia, primary, 40|not provided|Hydrocephalus|DNAH9-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 104
NM_001372.4(DNAH9):c.8839C>T (p.Arg2947Ter)Pathogenic
Ciliary dyskinesia, primary, 40|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 2947
NM_001372.4(DNAH9):c.3354-1delLikely pathogenic
not provided|DNAH9-related disorder
β˜…β˜…β˜†β˜†2025
NM_001372.4(DNAH9):c.11406+1G>TLikely pathogenic
not provided|Ciliary dyskinesia, primary, 40
β˜…β˜…β˜†β˜†2025
NM_001372.4(DNAH9):c.308del (p.Phe103fs)Pathogenic
not provided|Primary ciliary dyskinesia|Ciliary dyskinesia, primary, 40|DNAH9-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 103
NM_001372.4(DNAH9):c.6847+1G>ALikely pathogenic
not provided|DNAH9-related disorder|Ciliary dyskinesia, primary, 40
β˜…β˜…β˜†β˜†2025
NM_001372.4(DNAH9):c.6602G>A (p.Trp2201Ter)Pathogenic
not provided|Ciliary dyskinesia, primary, 40
β˜…β˜…β˜†β˜†2024β†’ Residue 2201
NM_001372.4(DNAH9):c.1901+1G>ALikely pathogenic
not provided|Ciliary dyskinesia, primary, 40
β˜…β˜…β˜†β˜†2024
NM_001372.4(DNAH9):c.12193C>T (p.Arg4065Ter)Pathogenic
DNAH9-related disorder|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 4065
NM_001372.4(DNAH9):c.8293del (p.Glu2765fs)Pathogenic
not provided|Ciliary dyskinesia, primary, 40
β˜…β˜…β˜†β˜†2024β†’ Residue 2765
NM_001372.4(DNAH9):c.12925C>T (p.Arg4309Ter)Likely pathogenic
Ciliary dyskinesia, primary, 40
β˜…β˜…β˜†β˜†2024β†’ Residue 4309
NM_001372.4(DNAH9):c.11195_11198del (p.Asp3732fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 3732
NM_001372.4(DNAH9):c.70C>T (p.Arg24Ter)Pathogenic
not provided|Ciliary dyskinesia, primary, 40
β˜…β˜…β˜†β˜†2024β†’ Residue 24
NM_001372.4(DNAH9):c.8870_8871del (p.Pro2957fs)Likely pathogenic
Primary ciliary dyskinesia|Ciliary dyskinesia, primary, 40
β˜…β˜…β˜†β˜†2024β†’ Residue 2957
NM_001372.4(DNAH9):c.2984del (p.Arg995fs)Pathogenic
Non-immune hydrops fetalis|not provided|DNAH9-related disorder
β˜…β˜…β˜†β˜†2023β†’ Residue 995
NM_001372.4(DNAH9):c.4030C>T (p.Arg1344Ter)Pathogenic
not provided|Congenital heart disease|Ciliary dyskinesia, primary, 40
β˜…β˜…β˜†β˜†2023β†’ Residue 1344
NM_001372.4(DNAH9):c.1944T>G (p.Tyr648Ter)Likely pathogenic
DNAH9-related disorder|Ciliary dyskinesia, primary, 40
β˜…β˜…β˜†β˜†2023β†’ Residue 648
NM_001372.4(DNAH9):c.2928+1G>ALikely pathogenic
DNAH9-related disorder|not provided
β˜…β˜…β˜†β˜†2023
View on ClinVar β†—
Related Genes
DNAI1Protein interaction98%DNAI2Protein interaction98%DNAAF1Protein interaction88%NME8Protein interaction81%DNAI4Protein interaction81%DRC2Protein interaction81%
Tissue Expression6 tissues
Brain
100%
Ovary
67%
Lung
35%
Liver
5%
Heart
5%
Bone Marrow
2%
Gene Interaction Network
Click a node to explore
DNAH9DNAI1DNAI2DNAAF1NME8DNAI4DRC2
PROTEIN STRUCTURE
Preparing viewer…
PDB8J07 Β· 4.10 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.78LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.71 [0.65–0.78]
RankingsWhere DNAH9 stands among ~20K protein-coding genes
  • #9,197of 20,598
    Most Researched47
  • #474of 5,498
    Most Pathogenic Variants158 Β· top 10%
  • #6,310of 17,882
    Most Constrained (LOEUF)0.78
Genes detectedDNAH9
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Whole exome sequencing analysis of 167 men with primary infertility.
PMID: 39267058
BMC Med Genomics Β· 2024
1.00
2
Identification and prioritization of myeloid malignancy germline variants in a large cohort of adult patients with AML.
PMID: 34482403
Blood Β· 2022
0.90
3
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants.
PMID: 32098966
Nat Commun Β· 2020
0.80
4
Dnah9 mutant mice and organoid models recapitulate the clinical features of patients with PCD and provide an excellent platform for drug screening.
PMID: 35729109
Cell Death Dis Β· 2022
0.70
5
Interaction between the DNAH9 gene and early smoke exposure in bronchial hyperresponsiveness.
PMID: 26797031
Eur Respir J Β· 2016
0.60