DNAAF11

Chr 8AR

dynein axonemal assembly factor 11

Also known as: CILD19, LRRC6, LRTP, TSLRP, tilB

NCBI Gene: 23639ENSG00000129295UniProt: Q86X45

The protein encoded by this gene contains several leucine-rich repeat domains and appears to be involved in the motility of cilia. Defects in this gene are a cause of primary ciliary dyskinesia-19 (CILD19). Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 4, 11 and 22. [provided by RefSeq, Apr 2016]

Primary Disease Associations & Inheritance

Ciliary dyskinesia, primary, 19MIM #614935
AR
422
ClinVar variants
103
Pathogenic / LP
0.00
pLI score
9
Active trials
Clinical Summary— DNAAF11
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
103 Pathogenic / Likely Pathogenic· 146 VUS of 422 total submissions
💊
Clinical Trials
9 active or recruiting trials — potential therapeutic options may be available

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.
1.08LOEUF
pLI 0.000
Z-score 1.23
OE 0.74 (0.51–1.08)
Tolerant

Highly tolerant — LoF variants common in population

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.
-0.13Z-score
OE missense 1.02 (0.92–1.14)
243 obs / 237.4 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.0.74 (0.51–1.08)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.02 (0.92–1.14)
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.1.02
0≤1.21.6
LoF obs/exp: 19 / 25.7Missense obs/exp: 243 / 237.4Syn Z: -0.14

ClinVar Variant Classifications

422 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic89
Likely Pathogenic14
VUS146
Likely Benign118
Benign24
Conflicting18
89
Pathogenic
14
Likely Pathogenic
146
VUS
118
Likely Benign
24
Benign
18
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
19
1
69
0
89
Likely Pathogenic
9
3
2
0
14
VUS
1
116
29
0
146
Likely Benign
0
6
52
60
118
Benign
0
3
19
2
24
Conflicting
—18
Total2912917162409

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

View in ClinVar →

Protein Context — Lollipop Plot

DNAAF11 · protein map & ClinVar variants

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

Gene2Phenotype Curations

DNAAF11-related primary ciliary dyskinesia

definitive
ARLoss Of FunctionAbsent Gene Product
Dev. Disorders
G2P ↗

Gene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

Ciliary dyskinesia, primary, 19

MIM #614935

Molecular basis of disorder known

Autosomal recessive
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
CystinosisNative Kidney

Cystinosis and Mitochondrial Metabolism

NOT YET RECRUITING
NCT07319091Phase NAHospices Civils de LyonStarted 2026-01
Mitochondrial metabolism
VaccinationImmunosenescenceMetabolism

VITAL: Vaccination, Immunity, Time-restricted Eating, Aging and Lifestyle

RECRUITING
NCT07000708Phase NACharite University, Berlin, GermanyStarted 2025-09-10
TRE: Time-restricted eating
Aging

The Fuel and Rhythm (FAR) Phase 2 Study

ACTIVE NOT RECRUITING
NCT05482711Phase NAUniversity of FloridaStarted 2023-01-10
Time Restricted Eating Intervention
Endometriosis

" Development of Primary Cultures of Diaphragmatic Myoblasts for Basic Research Purposes "

NOT YET RECRUITING
NCT07380308Assistance Publique - Hôpitaux de ParisStarted 2026-02-01
During the surgery planned as part of the routine care of the patient, a part of the tissue sample will be saved in order to carry out the analysis planned for the research.
Porphyria, Acute Intermittent

Clinical Research on Acute Intermittent Porphyria and the Use of Carbohydrate-Rich Diet as a Treatment

RECRUITING
NCT06273644Phase NANordlandssykehuset HFStarted 2024-01-27
Carbohydrates
Female Infertility

Female Fertility, Environmental Agents and Stress Oxidant

RECRUITING
NCT04866329University Hospital, ToursStarted 2021-12-08
Blood sampleUrine sampleFollicular fluid and granulosa cells sample
Transgender Individuals

Effects of Gender-Affirming Hormone Therapy on Cardiovascular, Metabolic, and Mental Health Outcomes in Transgender Adults.

NOT YET RECRUITING
NCT07394400Milagros Rocha BarajasStarted 2026-02-14
Melanoma

Evolution of Metabolic and Immune Dysfunction in In-transit Melanoma

RECRUITING
NCT04658303Yana NajjarStarted 2021-02-24
Pimonidazole
Rectal Cancer PatientsObesity &Amp; OverweightLocally Advanced Rectal Cancer (LARC)

Evaluating the Impact of GLP-1 Receptor Agonists With Total Neoadjuvant Therapy in Rectal Cancer

NOT YET RECRUITING
NCT07314528Phase PHASE2St. James's Hospital, IrelandStarted 2026-04
GLP-1 receptor agonistTotal neoadjuvant therapy (TNT)

External Resources

Links to major genomics databases and tools