IFT74 Gene - Intraflagellar Transport 74
Essential Component of the IFT-B Complex in Ciliogenesis
Gene Information Card
| Symbol | IFT74 |
|---|---|
| Full Name | Intraflagellar Transport 74 |
| Gene Type | Protein coding |
| Chromosomal Location | 9p21.2 |
| NCBI Gene ID | 80173 ncbi.nlm.nih.gov/gene/80173 |
| Ensembl ID | ENSG00000136869 |
| UniProt ID | Q96LB3 |
| OMIM ID | 617103 |
| HGNC ID | 21424 |
| Aliases | CMG-1, IFT74, bA138E22.1 |
Description
IFT74 encodes a core component of the intraflagellar transport (IFT) complex B, which is essential for the assembly and maintenance of cilia. The protein binds to IFT81 and facilitates the transport of ciliary cargo from the cell body to the ciliary tip. Mutations in IFT74 cause ciliopathies, including Bardet-Biedl syndrome and Joubert syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bardet-Biedl syndrome 22 | Loss-of-function mutations impair IFT-B complex assembly, disrupting ciliary transport | OMIM #617119 |
| Joubert syndrome 40 | Biallelic IFT74 variants reduce ciliogenesis, leading to cerebellar and retinal defects | OMIM #619583 |
| Retinitis pigmentosa | Defective IFT74 disrupts photoreceptor cilia maintenance | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 18.2 | High |
| Brain - cerebellum | 12.5 | Medium |
| Kidney | 10.8 | Medium |
| Lung | 8.3 | Medium |
| Liver | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.6 | Embryonic kidney cells |
| HeLa | 12.1 | Cervical carcinoma cells |
| HepG2 | 9.4 | Hepatocellular carcinoma cells |
| K562 | 6.7 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1684C>T (p.Arg562*) | Nonsense | Rare | Premature truncation, loss of IFT-B binding |
| c.1015G>A (p.Gly339Arg) | Missense | Rare | Impaired ciliary localization |
| c.1A>G (p.Met1?) | Start loss | Rare | No protein production |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function variants cause Bardet-Biedl syndrome and Joubert syndrome by disrupting IFT-B complex integrity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • intraflagellar transport complex B (GO:0030992) |
| • intraciliary transport (GO:0042073) | • cilium assembly (GO:0060271) |
| • cytoplasm (GO:0005737) |
Pathways
• HSA-5620912 - Intraflagellar transport
• HSA-1852241 - Organelle biogenesis and maintenance
• R-HSA-5617833 - Cilium assembly
Protein Summary
IFT74 is a 74 kDa protein that forms a heterodimer with IFT81 via its N-terminal coiled-coil domain. This dimer is a key subunit of the IFT-B complex, which mediates anterograde transport of ciliary cargo along microtubules. The protein is highly conserved across eukaryotes and is essential for ciliogenesis in multiple tissues, including photoreceptors, renal epithelia, and neuronal cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IFT74 Knockout HEK293 Cell Line | EDJ-KQ9476 | Human | 80173 | Details Get a Quote |
| IFT74 Knockout A-549 Cell Line | EDJ-KQ36185 | Human | 80173 | Details Get a Quote |
| IFT74 Knockout HCT 116 Cell Line | EDJ-KQ36186 | Human | 80173 | Details Get a Quote |
| IFT74 Knockout HeLa Cell Line | EDJ-KQ36187 | Human | 80173 | Details Get a Quote |
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