ODAD3 (Outer Dynein Arm Docking Complex Subunit 3)
Ciliary dynein arm assembly factor implicated in primary ciliary dyskinesia
Gene Information Card
| Symbol | ODAD3 |
|---|---|
| Full Name | Outer Dynein Arm Docking Complex Subunit 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.4 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000110395 |
| UniProt ID | Q96M63 |
| OMIM ID | 615956 |
| HGNC ID | 26119 |
| Aliases | C11orf70, FLJ22170 |
Description
ODAD3 encodes a component of the outer dynein arm docking complex, essential for proper assembly and attachment of outer dynein arms to ciliary microtubules. Mutations in ODAD3 cause primary ciliary dyskinesia (PCD) with defects in ciliary motility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia (PCD) | Loss-of-function mutations impair outer dynein arm docking, leading to defective ciliary beating and mucociliary clearance. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lung | 8.2 | Low |
| Trachea | 7.1 | Low |
| Fallopian Tube | 6.8 | Low |
| Brain | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (Lung) | 5.3 | Low expression |
| HepG2 (Liver) | 2.1 | Not detected |
| K562 (Leukemia) | 0.8 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense/Start loss | Rare | Loss of protein expression |
| c.238C>T (p.Arg80*) | Nonsense | Rare | Premature truncation, loss of function |
| c.349G>A (p.Gly117Arg) | Missense | Rare | Impaired docking complex assembly |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations cause complete loss of ODAD3 function, leading to PCD.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• REACT:1247672 – Cilium assembly
• REACT:1247673 – Dynein arm assembly
Protein Summary
ODAD3 is a 267-amino acid protein localized to the cytoplasm and ciliary base. It interacts with other docking complex subunits (ODAD1, ODAD2, ODAD4) to facilitate outer dynein arm attachment to ciliary doublet microtubules. Loss of ODAD3 disrupts ciliary motility, causing respiratory and reproductive defects.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ODAD3 Knockout HEK293 Cell Line | EDJ-KQ14547 | Human | 115948 | Details Get a Quote |
| ODAD3 Knockout A-549 Cell Line | EDJ-KQ44833 | Human | 115948 | Details Get a Quote |
| ODAD3 Knockout HeLa Cell Line | EDJ-KQ57966 | Human | 115948 | Details Get a Quote |
| ODAD3 Knockout HCT 116 Cell Line | EDJ-KQ74878 | Human | 115948 | Details Get a Quote |
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