IFT52 Gene - Intraflagellar Transport 52
Essential Component of the Intraflagellar Transport Complex B
Gene Information Card
| Symbol | IFT52 |
|---|---|
| Full Name | Intraflagellar Transport 52 |
| Gene Type | Protein coding |
| Chromosomal Location | 20q13.12 |
| NCBI Gene ID | 51098 ncbi.nlm.nih.gov/gene/51098 |
| Ensembl ID | ENSG00000101210 |
| UniProt ID | Q9Y366 |
| OMIM ID | 617094 |
| HGNC ID | 15901 |
| Aliases | NGD5, ODA10, MGC11256 |
Description
IFT52 encodes a subunit 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 ciliary components from the cell body to the tip of the cilium. Mutations in IFT52 cause short-rib thoracic dysplasia 16 with or without polydactyly, a severe ciliopathy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Short-rib thoracic dysplasia 16 with or without polydactyly | Loss-of-function mutations impair IFT complex B assembly, disrupting ciliogenesis and causing skeletal and organ defects. | ClinVar, OMIM |
| Asphyxiating thoracic dystrophy (Jeune syndrome) | Biallelic IFT52 variants lead to defective ciliary transport, resulting in narrow thorax and skeletal abnormalities. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 18.2 | Medium |
| Lung | 12.5 | Medium |
| Kidney | 11.8 | Medium |
| Brain | 9.3 | Low |
| Heart | 8.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.4 | Embryonic kidney cells |
| HeLa | 12.7 | Cervical cancer cells |
| A549 | 11.2 | Lung carcinoma cells |
| HepG2 | 9.8 | Liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1189C>T (p.Arg397*) | Nonsense | Rare | Premature stop, loss of function |
| c.1033G>A (p.Gly345Arg) | Missense | Rare | Disrupts IFT complex B interaction |
| c.1A>G (p.Met1?) | Start loss | Rare | No protein translation |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants cause truncated or absent IFT52 protein, leading to ciliary defects.
Gain of Function (GOF)
Not reported for IFT52.
Dominant Negative (DN)
Not reported; all pathogenic variants are recessive.
View complete mutation data：
Gene Ontology (GO)
| • cytoplasm (GO:0005737) | • intraflagellar transport complex B (GO:0030992) |
| • intraciliary retrograde transport (GO:0035721) | • cilium assembly (GO:0060271) |
| • protein binding (GO:0005515) |
Pathways
• HSA-5620912 - Intraflagellar transport
• HSA-1852241 - Organelle biogenesis and maintenance
Protein Summary
IFT52 is a 52 kDa protein that forms part of the IFT-B complex, which mediates anterograde transport along ciliary microtubules. It interacts with other IFT-B subunits (e.g., IFT88, IFT57) and is required for cilia formation. Loss of IFT52 leads to shortened or absent cilia, affecting Hedgehog signaling and developmental processes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IFT52 Knockout HEK293 Cell Line | EDJ-KQ10915 | Human | 51098 | Details Get a Quote |
| IFT52 Knockout A-549 Cell Line | EDJ-KQ38655 | Human | 51098 | Details Get a Quote |
| IFT52 Knockout HCT 116 Cell Line | EDJ-KQ38656 | Human | 51098 | Details Get a Quote |
| IFT52 Knockout HeLa Cell Line | EDJ-KQ38657 | Human | 51098 | Details Get a Quote |
