IFT46 Gene - Intraflagellar Transport 46
Essential Component of the Intraflagellar Transport Complex B
Gene Information Card
| Symbol | IFT46 |
|---|---|
| Full Name | Intraflagellar Transport 46 |
| Gene Type | Protein-coding |
| Chromosomal Location | 11q23.3 |
| NCBI Gene ID | 126792 ncbi.nlm.nih.gov/gene/126792 |
| Ensembl ID | ENSG00000118096 |
| UniProt ID | Q9NQC8 |
| OMIM ID | 614617 |
| HGNC ID | 26129 |
| Aliases | CFAP69, C11orf2, FLJ10718 |
Description
IFT46 encodes a component of the intraflagellar transport (IFT) complex B, which is essential for the assembly and maintenance of cilia. The protein is involved in anterograde transport of cargo along the ciliary axoneme. Mutations in IFT46 cause skeletal ciliopathies, including short-rib thoracic dysplasia with or without polydactyly.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Short-rib thoracic dysplasia 13 with or without polydactyly | Loss of IFT46 function disrupts IFT complex B assembly, impairing ciliogenesis and Hedgehog signaling | OMIM #617102 |
| Asphyxiating thoracic dystrophy (Jeune syndrome) | Defective ciliary transport due to IFT46 mutations leads to skeletal abnormalities | ClinVar, PMID: 25846608 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lung | 8.2 | Low |
| Kidney | 7.1 | Low |
| Brain | 5.3 | Low |
| Liver | 4.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Embryonic kidney cells |
| HeLa | 8.5 | Cervical cancer cells |
| HepG2 | 6.3 | Liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.461G>A (p.Trp154*) | Nonsense | Rare | Loss of function; predicted to cause nonsense-mediated decay |
| c.622C>T (p.Arg208Trp) | Missense | Rare | Likely damaging; disrupts IFT complex B interaction |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of translation initiation |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein or mRNA decay, causing ciliary dysfunction.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Hedgehog signaling pathway (Reactome: R-HSA-5358351)
• Intraflagellar transport (Reactome: R-HSA-5620920)
Protein Summary
IFT46 is a 46 kDa protein that localizes to the basal body and ciliary axoneme. It is a core subunit of IFT complex B, which mediates anterograde transport from the cell body to the ciliary tip. The protein interacts with other IFT-B subunits (e.g., IFT88, IFT52) and is required for ciliary assembly and Hedgehog signal transduction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IFT46 Knockout HEK293 Cell Line | EDJ-KQ13805 | Human | 56912 | Details Get a Quote |
| IFT46 Knockout A-549 Cell Line | EDJ-KQ43607 | Human | 56912 | Details Get a Quote |
| IFT46 Knockout HCT 116 Cell Line | EDJ-KQ43608 | Human | 56912 | Details Get a Quote |
| IFT46 Knockout HeLa Cell Line | EDJ-KQ43609 | Human | 56912 | Details Get a Quote |
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