IFT22: Intraflagellar Transport 22
A core component of the intraflagellar transport complex B, essential for cilia assembly and function.
Gene Information Card
| Symbol | IFT22 |
|---|---|
| Full Name | Intraflagellar Transport 22 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q22.3 |
| NCBI Gene ID | 64792 ncbi.nlm.nih.gov/gene/64792 |
| Ensembl ID | ENSG00000106367 |
| UniProt ID | Q96L46 |
| OMIM ID | 615806 |
| HGNC ID | 26039 |
| Aliases | CFAP69, FLJ22662, RABL5 |
Description
IFT22 (Intraflagellar Transport 22) encodes a small GTPase of the Rab-like family that is a core component of the intraflagellar transport (IFT) complex B. It is essential for the assembly and maintenance of cilia and flagella by mediating anterograde transport of cargo along the axoneme. Mutations in IFT22 are associated with ciliopathies, including primary ciliary dyskinesia and Joubert syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia | Loss-of-function mutations impair ciliary motility and mucociliary clearance. | ClinVar, OMIM |
| Joubert Syndrome | Defective ciliary signaling due to IFT22 disruption leads to cerebellar and retinal abnormalities. | OMIM, PubMed |
| Nephronophthisis | Ciliary dysfunction in renal tubules causes cystic kidney disease. | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Trachea | 8.3 | Medium |
| Lung | 6.1 | Low |
| Kidney | 5.4 | Low |
| Brain | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| hTERT-RPE1 | 9.8 | Ciliated retinal pigment epithelial cells |
| HeLa | 7.2 | Cervical carcinoma cell line |
| IMR-90 | 5.6 | Lung fibroblast |
| HEK293 | 4.1 | Embryonic kidney cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.179G>A (p.Arg60His) | Missense | Rare | Reduced ciliary localization and IFT-B complex stability |
| c.344_345del (p.Glu115Valfs*3) | Frameshift | Very rare | Loss of function, truncated protein |
| c.1A>G (p.Met1?) | Start loss | Rare | Complete loss of translation |
Mutation functional classification
Loss of Function (LOF)
Frameshift and start-loss mutations lead to truncated or absent IFT22 protein, disrupting IFT-B complex assembly and ciliogenesis.
Gain of Function (GOF)
No gain-of-function mutations reported for IFT22.
Dominant Negative (DN)
Missense variants like p.Arg60His may exert dominant-negative effects by incorporating into IFT-B but impairing function.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005515 (GO:0005515) | • GO:0005525 (GO:0005525) |
| • GO:0030992 (GO:0030992) | • GO:0042073 (GO:0042073) |
| • GO:0060271 (GO:0060271) |
Pathways
• Intraflagellar transport (R-HSA-5620920)
• Cilium assembly (R-HSA-5617833)
Protein Summary
IFT22 is a small Rab-like GTPase (UniProt Q96L46) that localizes to the base of cilia and along the axoneme. It binds GTP and interacts with other IFT-B complex subunits to facilitate anterograde transport of ciliary building blocks. The protein is highly conserved across eukaryotes and is essential for cilia formation in most cell types.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IFT22 Knockout HEK293 Cell Line | EDJ-KQ2120 | Human | 64792 | Details Get a Quote |
| IFT22 Knockout A-549 Cell Line | EDJ-KQ22260 | Human | 64792 | Details Get a Quote |
| IFT22 Knockout HCT 116 Cell Line | EDJ-KQ22261 | Human | 64792 | Details Get a Quote |
| IFT22 Knockout HeLa Cell Line | EDJ-KQ22262 | Human | 64792 | Details Get a Quote |
