IFT80 Gene: Intraflagellar Transport 80
IFT80: A key player in ciliary transport, linked to skeletal ciliopathies and cancer.
Gene Information Card
| Symbol | IFT80 |
|---|---|
| Full Name | intraflagellar transport 80 |
| Gene Type | protein coding |
| Chromosomal Location | 3q25.33 |
| NCBI Gene ID | 57560 ncbi.nlm.nih.gov/gene/57560 |
| Ensembl ID | ENSG00000168883 |
| UniProt ID | Q9P2H3 |
| OMIM ID | 611177 |
| HGNC ID | 29262 |
| Aliases | WDR56, MKS9 |
Description
The IFT80 gene encodes a protein that is a component of the intraflagellar transport (IFT) complex B, which is essential for the assembly and maintenance of cilia. Cilia are microtubule-based organelles that protrude from the cell surface and function in motility, sensory perception, and signaling pathways. IFT80 is involved in the anterograde transport of cargo along ciliary microtubules. Mutations in IFT80 cause skeletal ciliopathies, including Jeune syndrome (asphyxiating thoracic dystrophy) and short-rib polydactyly syndrome type III. Additionally, IFT80 has been implicated in cancer, where its expression is often dysregulated.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Disease | Mechanism | Evidence |
| Jeune syndrome (Asphyxiating thoracic dystrophy) | Loss-of-function mutations impair ciliary transport, leading to defective skeletal development. | ClinVar, OMIM |
| Short-rib polydactyly syndrome type III | Biallelic mutations disrupt IFT complex B function, causing severe skeletal abnormalities. | OMIM, PubMed |
| Cranioectodermal dysplasia (Sensenbrenner syndrome) | Mutations in IFT80 can cause this ciliopathy, affecting craniofacial and ectodermal development. | OMIM, PubMed |
| Cancer (e.g., breast, lung, colorectal) | Altered IFT80 expression may affect cilia-mediated signaling pathways, promoting tumorigenesis. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Tissue | nTPM | Level |
| Testis | 25.4 | Medium |
| Kidney | 18.2 | Low |
| Lung | 12.3 | Low |
| Brain | 8.5 | Low |
| Liver | 5.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cell Line | nTPM | Notes |
| A549 (lung carcinoma) | 15.2 | Moderate expression |
| MCF7 (breast cancer) | 10.8 | Low expression |
| HepG2 (liver cancer) | 4.3 | Very low |
| HEK293 (embryonic kidney) | 20.1 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Variant | Type | Frequency | Effect |
| c.1189C>T (p.Arg397*) | Nonsense | Rare | Premature truncation, loss of function |
| c.1393G>A (p.Gly465Arg) | Missense | Rare | Disrupts protein function |
| c.1750_1751del (p.Leu584fs) | Frameshift | Rare | Frameshift, loss of function |
| c.2086C>T (p.Arg696Trp) | Missense | Rare | Likely damaging |
Mutation functional classification
Loss of Function (LOF)
Most IFT80 mutations are loss-of-function, leading to impaired ciliary transport and ciliopathy phenotypes.
Gain of Function (GOF)
No evidence of gain-of-function mutations in IFT80.
Dominant Negative (DN)
No evidence of dominant-negative effects; IFT80 mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • cilium assembly |
| • intraflagellar transport | • cell projection organization |
| • signal transduction |
Pathways
• Intraflagellar transport (IFT)
• Cilium assembly
• Hedgehog signaling pathway
Protein Summary
The IFT80 protein is a WD40-repeat-containing subunit of the IFT complex B. It is localized to the ciliary base and axoneme, facilitating the transport of proteins required for cilia formation and function. IFT80 is essential for ciliogenesis and plays a role in Hedgehog signaling, which is critical for development. Defects in IFT80 lead to ciliary dysfunction, manifesting as skeletal ciliopathies. In cancer, IFT80 expression is often altered, suggesting a role in tumor progression through cilia-dependent signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IFT80 Knockout HEK293 Cell Line | EDJ-KQ12066 | Human | 57560 | Details Get a Quote |
| IFT80 Knockout A-549 Cell Line | EDJ-KQ40715 | Human | 57560 | Details Get a Quote |
| IFT80 Knockout HCT 116 Cell Line | EDJ-KQ40716 | Human | 57560 | Details Get a Quote |
| IFT80 Knockout HeLa Cell Line | EDJ-KQ40717 | Human | 57560 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
