IFT25 Gene (Intraflagellar Transport 25)
Essential Component of the Intraflagellar Transport Complex B for Ciliogenesis
Gene Information Card
| Symbol | IFT25 |
|---|---|
| Full Name | Intraflagellar Transport 25 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p32.3 |
| NCBI Gene ID | 51643 ncbi.nlm.nih.gov/gene/51643 |
| Ensembl ID | ENSG00000117519 |
| UniProt ID | Q9Y547 |
| OMIM ID | 610178 |
| HGNC ID | 5232 |
| Aliases | HSPB11, IFT25, C1orf41 |
Description
IFT25 encodes a component of the intraflagellar transport (IFT) complex B, essential for the assembly and maintenance of cilia. The protein is involved in the bidirectional transport of cargo along ciliary microtubules. Mutations in IFT25 disrupt ciliogenesis and are associated with ciliopathies, including Bardet-Biedl syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bardet-Biedl syndrome | Loss of IFT25 function impairs ciliary transport, leading to defective cilia formation and signaling | ClinVar, OMIM |
| Joubert syndrome | Disruption of IFT complex B affects ciliary structure and function | ClinVar |
| Nephronophthisis | Ciliary dysfunction due to IFT25 mutations causes renal tubular defects | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Kidney | 8.2 | Low |
| Brain | 6.1 | Low |
| Lung | 5.4 | Low |
| Liver | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | RNA expression moderate |
| HeLa | 7.8 | RNA expression low |
| HepG2 | 6.5 | RNA expression low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.295C>T (p.Arg99*) | Nonsense | Rare | Loss of function; truncation of IFT25 |
| c.416G>A (p.Arg139His) | Missense | Rare | Potential loss of function; disrupts protein stability |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that impair ciliary transport and ciliogenesis.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • cilium assembly | • intraflagellar transport |
| • protein transport | • cell projection organization |
Pathways
• Intraflagellar transport
• Ciliopathy
Protein Summary
IFT25 is a 25 kDa protein that forms part of the IFT-B complex. It localizes to the base of cilia and is required for the anterograde transport of ciliary components. The protein contains a heat shock protein (HSP) domain and is essential for ciliary maintenance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IFT25 Knockout HEK293 Cell Line | EDJ-KQ13804 | Human | 51668 | Details Get a Quote |
| IFT25 Knockout A-549 Cell Line | EDJ-KQ43604 | Human | 51668 | Details Get a Quote |
| IFT25 Knockout HCT 116 Cell Line | EDJ-KQ43605 | Human | 51668 | Details Get a Quote |
| IFT25 Knockout HeLa Cell Line | EDJ-KQ43606 | Human | 51668 | Details Get a Quote |
