IFT20: Intraflagellar Transport 20
A core component of the intraflagellar transport complex B, essential for ciliogenesis and ciliary signaling.
Gene Information Card
| Symbol | IFT20 |
|---|---|
| Full Name | Intraflagellar Transport 20 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q11.2 |
| NCBI Gene ID | 90410 ncbi.nlm.nih.gov/gene/90410 |
| Ensembl ID | ENSG00000109084 |
| UniProt ID | Q8IY31 |
| OMIM ID | 614394 |
| HGNC ID | 29637 |
| Aliases | FLJ20366, MGC138499, MGC138500 |
Description
IFT20 encodes a component of the intraflagellar transport (IFT) complex B, which is required for the assembly and maintenance of cilia. The protein localizes to the basal body and ciliary tip, facilitating the anterograde transport of cargo along the axoneme. IFT20 is also involved in ciliary signaling pathways, including Hedgehog signaling. Mutations in IFT20 are associated with ciliopathies, particularly skeletal ciliopathies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ciliopathy (skeletal) | Defective ciliary assembly due to loss of IFT20 function | OMIM #614394; case reports of compound heterozygous variants |
| Joubert syndrome (related) | Impaired ciliary signaling and structural cilia defects | ClinVar; limited evidence, but IFT20 is a candidate gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Kidney | 8.2 | Low |
| Lung | 6.1 | Low |
| Brain | 4.3 | Low |
| Liver | 2.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | Moderate expression |
| HeLa | 10.5 | Moderate expression |
| A549 | 7.8 | Low expression |
| HepG2 | 3.2 | Low expression |
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.124C>T (p.Arg42*) | Nonsense | Rare | Premature truncation, loss of function |
| c.286_287del (p.Leu96fs) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported IFT20 variants are loss-of-function (nonsense, frameshift, start loss), leading to reduced or absent protein and defective ciliogenesis.
Gain of Function (GOF)
No gain-of-function mutations reported for IFT20.
Dominant Negative (DN)
No dominant-negative mutations reported for IFT20.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Intraflagellar transport (IFT)
• Hedgehog signaling pathway
• Ciliogenesis
Protein Summary
IFT20 is a 20 kDa protein that forms part of the IFT-B complex. It is essential for the bidirectional transport of ciliary components. The protein contains a coiled-coil domain and localizes to the basal body and ciliary tip. IFT20 interacts with other IFT-B subunits (e.g., IFT88, IFT52) and is required for ciliary entry of signaling molecules. Loss of IFT20 leads to shortened or absent cilia and disrupted Hedgehog signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IFT20 Knockout HEK293 Cell Line | EDJ-KQ10597 | Human | 90410 | Details Get a Quote |
| IFT20 Knockout A-549 Cell Line | EDJ-KQ38078 | Human | 90410 | Details Get a Quote |
| IFT20 Knockout HCT 116 Cell Line | EDJ-KQ38079 | Human | 90410 | Details Get a Quote |
| IFT20 Knockout HeLa Cell Line | EDJ-KQ38080 | Human | 90410 | Details Get a Quote |
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