DYNC2I2
Chr 9ARdynein 2 intermediate chain 2
Also known as: CFAP133, DIC5, FAP133, SRTD11, WDR34, bA216B9.3
This protein functions as a non-catalytic accessory component of the cytoplasmic dynein 2 complex, driving retrograde ciliary protein trafficking and ciliogenesis along microtubules within cilia. Mutations cause short-rib thoracic dysplasia 11 with or without polydactyly, a skeletal ciliopathy with autosomal recessive inheritance. The gene shows very low constraint against loss-of-function variants (pLI near zero), consistent with recessive disease.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
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. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
450 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 24 | 3 | 31 | 0 | 58 |
Likely Pathogenic | 9 | 7 | 1 | 0 | 17 |
VUS | 0 | 174 | 20 | 0 | 194 |
Likely Benign | 0 | 4 | 61 | 96 | 161 |
Benign | 0 | 1 | 2 | 7 | 10 |
Conflicting | — | 3 | |||
| Total | 33 | 189 | 115 | 103 | 443 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
DYNC2I2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools