DNAH11

Chr 7AR

dynein axonemal heavy chain 11

Also known as: CILD7, DNAHBL, DNAHC11, DNHBL, DPL11

NCBI Gene: 8701ENSG00000105877UniProt: Q96DT5

This gene encodes a ciliary outer dynein arm protein and is a member of the dynein heavy chain family. It is a microtubule-dependent motor ATPase and has been reported to be involved in the movement of respiratory cilia. Mutations in this gene have been implicated in causing Kartagener Syndrome (a combination of situs inversus totalis and Primary Ciliary Dyskinesia (PCD), also called Immotile Cilia Syndrome 1 (ICS1)) and male sterility. [provided by RefSeq, Mar 2013]

Primary Disease Associations & Inheritance

Ciliary dyskinesia, primary, 7, with or without situs inversusMIM #611884
AR
586
ClinVar variants
78
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— DNAH11
🧬
Gene-Disease Validity (ClinGen)
primary ciliary dyskinesia 7 · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
78 Pathogenic / Likely Pathogenic· 179 VUS of 586 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.67LOEUF
pLI 0.000
Z-score 5.79
OE 0.58 (0.51–0.67)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
-5.61Z-score
OE missense 1.33 (1.29–1.37)
3027 obs / 2274.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.58 (0.51–0.67)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.33 (1.29–1.37)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.28
0≤1.21.6
LoF obs/exp: 131 / 224.6Missense obs/exp: 3027 / 2274.4Syn Z: -6.34

ClinVar Variant Classifications

586 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic42
Likely Pathogenic36
VUS179
Likely Benign254
Benign54
Conflicting21
42
Pathogenic
36
Likely Pathogenic
179
VUS
254
Likely Benign
54
Benign
21
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
17
0
25
0
42
Likely Pathogenic
22
0
14
0
36
VUS
2
167
10
0
179
Likely Benign
0
56
79
119
254
Benign
0
36
1
17
54
Conflicting
—21
Total41259129136586

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

DNAH11 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

Ciliary dyskinesia, primary, 7, with or without situs inversus

MIM #611884

Molecular basis of disorder known

Autosomal recessive
📖
GeneReview available — DNAH11
Authoritative clinical overview · NCBI Bookshelf · Recommended first read
Open GeneReview ↗
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Clinical and Genetic Spectrum of Children With Primary Ciliary Dyskinesia in China.
Guan Y et al.·Chest
2021
Association of novel DNAH11 variants with asthenoteratozoospermia lead to male infertility.
Guo S et al.·Hum Genomics
2024
Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations.
Raidt J et al.·Eur Respir J
2024
A novel DNAH11 variant segregating in a sibship with heterotaxy and implications for genetic counseling.
Namavarian A et al.·Mol Genet Genomic Med
2020Case report
Ciliary Ultrastructure Assessed by Transmission Electron Microscopy in Adults with Bronchiectasis and Suspected Primary Ciliary Dyskinesia but Inconclusive Genotype.
Staar BO et al.·Cells
2023
Genetics of 67 patients of suspected primary ciliary dyskinesia from India.
Jat KR et al.·Clin Genet
2024Cohort
Genetic variants of DNAH11 and LRFN2 genes and their association with ovarian and breast cancer.
Verma S et al.·Int J Gynaecol Obstet
2020
Whole genome sequencing enhances molecular diagnosis of primary ciliary dyskinesia.
Black HA et al.·Pediatr Pulmonol
2024
A Deep Intronic, Pathogenic Variant in DNAH11 Causes Primary Ciliary Dyskinesia.
Shapiro AJ et al.·Am J Respir Cell Mol Biol
2022
DNAH11 compound heterozygous variants cause heterotaxy and congenital heart disease.
Xia H et al.·PLoS One
2021Case report
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
DNAH11 impairs memory via disrupted synaptic plasticity in noise-induced hidden hearing loss mice.
Fu Y et al.·Cell Biol Toxicol
2025🔓 Open Access
Biallelic variants in DNAH11 cause male infertility with asthenozoospermia in a Chinese non-consanguineous family: A case report.
Zhang Y et al.·Medicine (Baltimore)
2025🔓 Open AccessCase report
[Analysis of DNAH11 gene variants and clinical characteristics of a Chinese pedigree affected with Primary ciliary dyskinesia].
Wang X et al.·Zhonghua Yi Xue Yi Chuan Xue Za Zhi
2025
Biallelic c.2709del and c.3020T>G cause DNAH11-related primary ciliary dyskinesia presenting with Kartagener syndrome: Possible novel phenotype of diffuse-twisting wave-like movements of airway epithelial cell populations.
Umeda A et al.·Respir Investig
2025
Primary ciliary dyskinesia: a case report of double DNAH11 mutant alleles.
Pîrlog LM et al.·Med Pharm Rep
2025🔓 Open AccessCase report
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools