IFT172: Intraflagellar Transport 172
Key regulator of ciliary assembly and signaling, associated with ciliopathies and retinal degeneration
Gene Information Card
| Symbol | IFT172 |
|---|---|
| Full Name | Intraflagellar Transport 172 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p23.3 |
| NCBI Gene ID | 26160 ncbi.nlm.nih.gov/gene/26160 |
| Ensembl ID | ENSG00000138074 |
| UniProt ID | Q9UG01 |
| OMIM ID | 607386 |
| HGNC ID | 30314 |
| Aliases | NPHP17, BBS20, SRTD10, hIft172, wim |
Description
IFT172 encodes a subunit of the intraflagellar transport (IFT) complex B, which is essential for the bidirectional movement of cargo along ciliary axonemes. This protein is required for ciliary assembly, maintenance, and signaling, particularly in the photoreceptor outer segments of the retina and in primary cilia of various tissues. Mutations in IFT172 cause a spectrum of ciliopathies, including Bardet-Biedl syndrome, isolated retinitis pigmentosa, and short-rib thoracic dysplasia with or without polydactyly.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bardet-Biedl syndrome 20 (BBS20) | Loss-of-function mutations impair ciliary transport, leading to defective photoreceptor and renal cilia | OMIM #617119; ClinVar |
| Retinitis pigmentosa 71 (RP71) | Disruption of IFT172 compromises outer segment renewal in photoreceptors, causing progressive retinal degeneration | OMIM #617781; ClinVar |
| Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10) | Defective IFT complex B disrupts hedgehog signaling and skeletal ciliogenesis, resulting in thoracic narrowing and rib anomalies | OMIM #615630; ClinVar |
| Nephronophthisis 17 (NPHP17) | Ciliary dysfunction in renal tubular epithelial cells leads to cyst formation and fibrosis | OMIM #617010; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 21.1 | Medium |
| Retina | 18.5 | Medium |
| Kidney | 12.3 | Medium |
| Lung | 9.8 | Low |
| Brain | 7.2 | Low |
| Liver | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| hTERT-RPE1 | 15.4 | Ciliated retinal pigment epithelial cells |
| ARPE-19 | 14.2 | Retinal pigment epithelium |
| HEK 293 | 11.8 | Embryonic kidney cells |
| HeLa | 9.3 | Cervical carcinoma cells |
| HepG2 | 6.7 | Hepatocellular carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.3655C>T (p.Arg1219*) | Nonsense | Rare | Loss of function; truncation of IFT172 protein |
| c.2671G>A (p.Gly891Arg) | Missense | Rare | Impaired IFT complex B assembly |
| c.4390C>T (p.Arg1464Trp) | Missense | Rare | Reduced ciliary localization |
| c.1102C>T (p.Arg368*) | Nonsense | Rare | Loss of function; associated with BBS20 |
Mutation functional classification
Loss of Function (LOF)
Most IFT172 mutations are loss-of-function (nonsense, frameshift, splice-site), leading to truncated or unstable protein, defective ciliary transport, and ciliopathy phenotypes.
Gain of Function (GOF)
No gain-of-function mutations have been reported for IFT172.
Dominant Negative (DN)
Some missense variants (e.g., p.Gly891Arg) may exert dominant-negative effects by disrupting IFT complex B integrity, though autosomal recessive inheritance is typical.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Hedgehog signaling pathway (Reactome: R-HSA-5358351)
• Intraflagellar transport (Reactome: R-HSA-5620920)
• Cilium assembly (Reactome: R-HSA-5617833)
• Photoreceptor outer segment morphogenesis (Reactome: R-HSA-6814858)
Protein Summary
IFT172 is a 172 kDa protein that localizes to the base and axoneme of cilia. It is a core component of the IFT-B complex, which mediates anterograde transport from the cell body to the ciliary tip. The protein contains multiple WD40 repeats and a coiled-coil domain, facilitating interactions with other IFT subunits and cargo. In photoreceptors, IFT172 is critical for the transport of opsin and other proteins to the outer segment; its loss leads to retinal degeneration. In other tissues, IFT172 supports hedgehog signaling and skeletal development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IFT172 Knockout HEK293 Cell Line | EDJ-KQ8440 | Human | 26160 | Details Get a Quote |
| IFT172 Knockout HCT 116 Cell Line | EDJ-KQ33225 | Human | 26160 | Details Get a Quote |
| IFT172 Knockout A-549 Cell Line | EDJ-KQ34557 | Human | 26160 | Details Get a Quote |
| IFT172 Knockout HeLa Cell Line | EDJ-KQ34558 | Human | 26160 | Details Get a Quote |
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