IFT56 (Intraflagellar Transport 56)
A component of the intraflagellar transport complex B involved in cilia assembly and function
Gene Information Card
| Symbol | IFT56 |
|---|---|
| Full Name | Intraflagellar Transport 56 |
| Gene Type | Protein-coding |
| Chromosomal Location | 7q31.31 |
| NCBI Gene ID | 55081 ncbi.nlm.nih.gov/gene/55081 |
| Ensembl ID | ENSG00000106031 |
| UniProt ID | Q9H7X7 |
| OMIM ID | 614817 |
| HGNC ID | 25781 |
| Aliases | TTC26, DKFZp434B0335 |
Description
IFT56 (intraflagellar transport 56) encodes a tetratricopeptide repeat (TPR) domain-containing protein that is a component of the intraflagellar transport (IFT) complex B. This complex is essential for the assembly and maintenance of cilia and flagella by mediating anterograde transport of cargo along the axoneme. IFT56 is required for proper ciliary function and has been implicated in ciliopathies, including primary ciliary dyskinesia and related disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary ciliary dyskinesia (PCD) | Loss-of-function mutations in IFT56 disrupt IFT complex B assembly, impairing ciliary motility and mucociliary clearance. | ClinVar, OMIM |
| Situs inversus totalis | Defective ciliary function during embryonic development leads to randomization of left-right body asymmetry. | OMIM, PubMed |
| Hydrocephalus | Impaired ciliary function in ependymal cells disrupts cerebrospinal fluid flow, contributing to ventricular enlargement. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lung | 8.2 | Low |
| Brain | 6.1 | Low |
| Kidney | 5.4 | Low |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Embryonic kidney cells |
| A549 | 7.3 | Lung carcinoma cells |
| HeLa | 6.5 | Cervical carcinoma cells |
| HepG2 | 4.2 | Hepatocellular carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1243C>T (p.Arg415*) | Nonsense | Rare | Loss of function; associated with PCD |
| c.1672G>A (p.Gly558Arg) | Missense | Rare | Likely pathogenic; disrupts protein stability |
| c.214_215del (p.Leu72Valfs*5) | Frameshift | Rare | Loss of function; associated with situs inversus |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and splice-site mutations that truncate or destabilize the protein, leading to impaired IFT complex B function and ciliary defects.
Gain of Function (GOF)
No gain-of-function mutations reported for IFT56.
Dominant Negative (DN)
No dominant-negative mutations reported for IFT56.
View complete mutation data：
Gene Ontology (GO)
Pathways
• HSA-5620912 (Anterograde intraflagellar transport)
• HSA-5617833 (Cargo trafficking to the periciliary membrane)
• HSA-5620920 (Ciliary assembly)
Protein Summary
IFT56 is a 56 kDa protein containing multiple tetratricopeptide repeats that mediate protein-protein interactions within the IFT complex B. It localizes to the base of cilia and along the axoneme, facilitating the transport of structural and signaling molecules required for ciliogenesis. Mutations in IFT56 cause ciliary dysfunction, leading to a spectrum of ciliopathies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IFT56 Knockout HEK293 Cell Line | EDJ-KQ13068 | Human | 79989 | Details Get a Quote |
| IFT56 Knockout A-549 Cell Line | EDJ-KQ43610 | Human | 79989 | Details Get a Quote |
| IFT56 Knockout HCT 116 Cell Line | EDJ-KQ43612 | Human | 79989 | Details Get a Quote |
| IFT56 Knockout HeLa Cell Line | EDJ-KQ43613 | Human | 79989 | Details Get a Quote |
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