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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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DNAH11
dynein axonemal heavy chain 11
Chromosome 7 Β· 7p15.3
NCBI Gene: 8701Ensembl: ENSG00000105877.19HGNC: HGNC:2942UniProt: H9NAJ7
55PubMed Papers
21Diseases
0Drugs
580Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
9+2 motile ciliumregulation of cilium beat frequencyprotein localization to motile ciliumaxonemeprimary ciliary dyskinesiaHypercholesterolemiametabolic diseasehyperlipidemia
✦AI Summary

DNAH11 encodes dynein axonemal heavy chain 11, a critical motor protein component required for proper ciliary function and embryonic left-right axis determination. The protein is essential for ciliary beating in respiratory epithelia and sperm flagellar motility, producing force toward the minus ends of microtubules through ATP hydrolysis 1. DNAH11 functions as a key component of outer dynein arms in the axonemal structure, and its loss leads to defective ciliary ultrastructure and impaired motility 1. Bi-allelic mutations in DNAH11 cause primary ciliary dyskinesia type 7 (PCD7), characterized by chr7 respiratory infections, bronchiectasis, and situs inversus in approximately 50% of cases 23. Unlike other PCD genes, DNAH11 mutations typically do not produce pathognomonic ultrastructural defects visible by transmission electron microscopy, making diagnosis challenging 4. The gene shows significant genetic heterogeneity with regional clustering of founder variants, and patients with DNAH11 mutations tend to have milder lung function impairment compared to other PCD genotypes 5. Additionally, DNAH11 variants cause male infertility through asthenoteratozoospermia due to defective sperm flagellar assembly, though this can be successfully treated with ICSI 1.

Sources cited
1
DNAH11 produces force toward microtubule minus ends via ATP hydrolysis and is essential for outer dynein arm structure in sperm flagella
PMID: 39256880
2
Bi-allelic DNAH11 mutations cause situs inversus totalis and primary ciliary dyskinesia
PMID: 12142464
3
DNAH11 is the most commonly mutated gene in Chinese PCD patients
PMID: 33577779
4
DNAH11 mutations do not cause pathognomonic ultrastructural defects visible by electron microscopy
PMID: 33243178
5
DNAH11 mutations are associated with milder lung function impairment compared to other PCD genotypes
PMID: 38871375
Disease Associationsβ“˜21
primary ciliary dyskinesiaOpen Targets
0.77Strong
HypercholesterolemiaOpen Targets
0.49Moderate
metabolic diseaseOpen Targets
0.47Moderate
hyperlipidemiaOpen Targets
0.40Weak
bronchiectasisOpen Targets
0.37Weak
laterality defects, autosomal dominantOpen Targets
0.37Weak
prostate carcinomaOpen Targets
0.36Weak
placental retentionOpen Targets
0.34Weak
IGA glomerulonephritisOpen Targets
0.34Weak
squamous cell carcinomaOpen Targets
0.34Weak
alcohol drinkingOpen Targets
0.34Weak
Kartagener SyndromeOpen Targets
0.33Weak
physical activityOpen Targets
0.33Weak
gastric carcinomaOpen Targets
0.33Weak
lung carcinomaOpen Targets
0.33Weak
situs inversusOpen Targets
0.33Weak
Situs inversus totalisOpen Targets
0.33Weak
response to statinOpen Targets
0.33Weak
Disorder of lipid metabolismOpen Targets
0.32Weak
familial hypercholesterolemiaOpen Targets
0.32Weak
Ciliary dyskinesia, primary, 7UniProt
Pathogenic Variants580
NM_001277115.2(DNAH11):c.860dup (p.Asn287fs)Pathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 7
β˜…β˜…β˜†β˜†2026β†’ Residue 287
NM_001277115.2(DNAH11):c.6727C>T (p.Arg2243Ter)Pathogenic
Primary ciliary dyskinesia 7|Primary ciliary dyskinesia|not provided|Respiratory ciliopathies including non-CF bronchiectasis
β˜…β˜…β˜†β˜†2026β†’ Residue 2243
NM_001277115.2(DNAH11):c.10896+1G>TPathogenic
Primary ciliary dyskinesia|Respiratory ciliopathies including non-CF bronchiectasis
β˜…β˜…β˜†β˜†2026
NM_001277115.2(DNAH11):c.6244C>T (p.Arg2082Ter)Pathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 7|not provided|DNAH11-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 2082
NM_001277115.2(DNAH11):c.10789C>T (p.Gln3597Ter)Pathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 7
β˜…β˜…β˜†β˜†2026β†’ Residue 3597
NM_001277115.2(DNAH11):c.10264G>A (p.Gly3422Arg)Pathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 7
β˜…β˜…β˜†β˜†2026β†’ Residue 3422
NM_001277115.2(DNAH11):c.5506C>T (p.Arg1836Ter)Pathogenic
Primary ciliary dyskinesia 7|Primary ciliary dyskinesia
β˜…β˜…β˜†β˜†2026β†’ Residue 1836
NM_001277115.2(DNAH11):c.6983+1G>APathogenic
Primary ciliary dyskinesia 7|Primary ciliary dyskinesia
β˜…β˜…β˜†β˜†2026
NM_001277115.2(DNAH11):c.13373C>T (p.Pro4458Leu)Pathogenic
Primary ciliary dyskinesia 7|Primary ciliary dyskinesia|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 4458
NM_001277115.2(DNAH11):c.12934-1G>TPathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 7|DNAH11-related disorder
β˜…β˜…β˜†β˜†2025
NM_001277115.2(DNAH11):c.1A>G (p.Met1Val)Likely pathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 7
β˜…β˜…β˜†β˜†2025β†’ Residue 1
NM_001277115.2(DNAH11):c.5349_5352del (p.Ile1784fs)Pathogenic
Primary ciliary dyskinesia
β˜…β˜…β˜†β˜†2025β†’ Residue 1784
NM_001277115.2(DNAH11):c.4333C>T (p.Arg1445Ter)Pathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 7|not provided|Respiratory ciliopathies including non-CF bronchiectasis
β˜…β˜…β˜†β˜†2025β†’ Residue 1445
NM_001277115.2(DNAH11):c.9113_9116del (p.Lys3038fs)Pathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 7
β˜…β˜…β˜†β˜†2025β†’ Residue 3038
NM_001277115.2(DNAH11):c.3133C>T (p.Arg1045Ter)Pathogenic
not provided|Primary ciliary dyskinesia|Primary ciliary dyskinesia 7
β˜…β˜…β˜†β˜†2025β†’ Residue 1045
NM_001277115.2(DNAH11):c.4438C>T (p.Arg1480Ter)Pathogenic
Primary ciliary dyskinesia|not provided|Primary ciliary dyskinesia 7
β˜…β˜…β˜†β˜†2025β†’ Residue 1480
NM_001277115.2(DNAH11):c.10569-2A>GLikely pathogenic
not provided|Primary ciliary dyskinesia
β˜…β˜…β˜†β˜†2025
NM_001277115.2(DNAH11):c.4395_4398del (p.Ser1465fs)Pathogenic
Primary ciliary dyskinesia|not provided|Primary ciliary dyskinesia 7|DNAH11-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 1465
NM_001277115.2(DNAH11):c.13183C>T (p.Arg4395Ter)Pathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 7
β˜…β˜…β˜†β˜†2025β†’ Residue 4395
NM_001277115.2(DNAH11):c.8698C>T (p.Arg2900Ter)Pathogenic
Primary ciliary dyskinesia 7|Primary ciliary dyskinesia|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 2900
View on ClinVar β†—
Related Genes
RSPH1Protein interaction99%DNAI2Protein interaction98%NME8Protein interaction94%DRC2Protein interaction94%RPGRProtein interaction93%DNALI1Protein interaction93%
Tissue Expression6 tissues
Lung
100%
Ovary
75%
Liver
71%
Bone Marrow
64%
Heart
33%
Brain
23%
Gene Interaction Network
Click a node to explore
DNAH11RSPH1DNAI2NME8DRC2RPGRDNALI1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q96DT5
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.91LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.84 [0.78–0.91]
RankingsWhere DNAH11 stands among ~20K protein-coding genes
  • #8,191of 20,598
    Most Researched55
  • #86of 5,498
    Most Pathogenic Variants580 Β· top 5%
  • #8,324of 17,882
    Most Constrained (LOEUF)0.91
Genes detectedDNAH11
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
Association of novel DNAH11 variants with asthenoteratozoospermia lead to male infertility.
PMID: 39256880
Hum Genomics Β· 2024
0.90
3
Human Genetics of Defects of Situs.
PMID: 38884744
Adv Exp Med Biol Β· 2024
0.80
4
Genetic modifiers of APOE-Ξ΅4-associated cognitive decline.
PMID: 41720779
Nat Commun Β· 2026
0.70
5
Investigation of the genetic and clinical features of laterality disorders in prenatal diagnosis: discovery of a novel compound heterozygous mutation in the DNAH11 gene.
PMID: 38852111
Arch Gynecol Obstet Β· 2024
0.60