DNAAF11

Chr 8AR

dynein axonemal assembly factor 11

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

NCBI Gene: 23639 ENSG00000129295 UniProt: Q86X45 OMIM: 614930

The protein is involved in dynein arm assembly and transports outer dynein arm proteins from the cytoplasm to cilia, making it crucial for ciliary motility and sperm flagella formation. Mutations cause primary ciliary dyskinesia-19, a condition affecting respiratory function, fertility, and organ positioning due to defective ciliary motility. This follows autosomal recessive inheritance.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

GeneReviews OMIM ResearchGenerating clinical summary…

LOFmechanismARLOEUF 1.081 OMIM phenotype

Clinical Summary— DNAAF11

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Gene-Disease Validity (ClinGen)

primary ciliary dyskinesia 19 · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

51 unique Pathogenic / Likely Pathogenic· 137 VUS of 362 total submissions

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Clinical Trials

9 active or recruiting trials — potential therapeutic options may be available

Explore recent and relevant literature in Research Assistant →

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GeneReview available — DNAAF11

Authoritative clinical overview · Recommended first read

Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

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?

-0.13Z-score

OE missense 1.02 (0.92–1.14)

243 obs / 237.4 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.74 (0.51–1.08)

0≤0.351.4

Missense OE?1.02 (0.92–1.14)

0≤0.61.4

Synonymous OE?1.02

0≤1.21.6

LoF obs/exp: 19 / 25.7Missense obs/exp: 243 / 237.4Syn Z: -0.14

Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗

definitiveDNAAF11-related primary ciliary dyskinesiaLOFAR

This gene — mechanism propensity

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

0.7130th %ile

GOF

0.6540th %ile

LOF

0.2386th %ile

The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

362 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic34

Likely Pathogenic17

VUS137

Likely Benign119

Benign24

Conflicting18

Pathogenic

Likely Pathogenic

137

VUS

119

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	31	2	1	0	34
Likely Pathogenic	12	3	2	0	17
VUS	2	119	16	0	137
Likely Benign	0	6	52	61	119
Benign	0	3	19	2	24
Conflicting	—				18
Total	45	133	90	63	349

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

View in ClinVar →

55 pathogenic / likely-pathogenic (of 65) ClinVar copy-number / structural variants overlap DNAAF11 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →