ODAD2

Chr 10AR

outer dynein arm docking complex subunit 2

Also known as: ARMC4, CILD23, gudu

NCBI Gene: 55130ENSG00000169126UniProt: Q5T2S8

The protein is a component of the outer dynein arm-docking complex that mediates outer dynein arm binding to ciliary microtubules, essential for normal ciliary motility. Mutations cause primary ciliary dyskinesia characterized by chronic respiratory disease and laterality defects due to defective ciliary beating. Inheritance is autosomal recessive.

Summary from RefSeq, OMIM, UniProt
Research Assistant →

Primary Disease Associations & Inheritance

Ciliary dyskinesia, primary, 23MIM #615451
AR
0
Active trials
0
Pubs (1 yr)
56
P/LP submissions
2%
P/LP missense
1.15
LOEUF
LOF
Mechanism· G2P
Clinical Summary— ODAD2
🧬
Gene-Disease Validity (ClinGen)
primary ciliary dyskinesia 23 · 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
49 unique Pathogenic / Likely Pathogenic· 249 VUS of 600 total submissions
Explore recent and relevant literature in Research Assistant →
📖
GeneReview available — ODAD2
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
1.15LOEUF
pLI 0.000
Z-score 0.70
OE 0.89 (0.69–1.15)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.51Z-score
OE missense 0.94 (0.87–1.01)
526 obs / 560.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.89 (0.69–1.15)
0≤0.351.4
Missense OE0.94 (0.87–1.01)
0≤0.61.4
Synonymous OE0.97
0≤1.21.6
LoF obs/exp: 41 / 46.1Missense obs/exp: 526 / 560.0Syn Z: 0.39
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
definitiveODAD2-related primary ciliary dyskinesiaLOFAR

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

DN
0.6648th %ile
GOF
0.6541th %ile
LOF
0.3745th %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

600 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic32
Likely Pathogenic17
VUS249
Likely Benign232
Benign57
Conflicting1
32
Pathogenic
17
Likely Pathogenic
249
VUS
232
Likely Benign
57
Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
13
0
19
0
32
Likely Pathogenic
14
1
2
0
17
VUS
1
235
13
0
249
Likely Benign
0
18
100
114
232
Benign
0
4
53
0
57
Conflicting
—1
Total28258187114588

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

View in ClinVar →

Protein Context — Lollipop Plot

ODAD2 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 2 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients