IFT122: Intraflagellar Transport 122
Key regulator of ciliary assembly and Hedgehog signaling
Gene Information Card
| Symbol | IFT122 |
|---|---|
| Full Name | Intraflagellar Transport 122 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q21.3-q22.1 |
| NCBI Gene ID | 55764 ncbi.nlm.nih.gov/gene/55764 |
| Ensembl ID | ENSG00000163909 |
| UniProt ID | Q9HBG6 |
| OMIM ID | 606045 |
| HGNC ID | 26056 |
| Aliases | WDR10, CED1, SPG, SRTD1 |
Description
IFT122 encodes a subunit of the intraflagellar transport complex A (IFT-A), which is essential for retrograde ciliary transport and ciliary assembly. The protein contains WD40 repeats and is involved in the Hedgehog signaling pathway. Mutations in IFT122 cause cranioectodermal dysplasia (Sensenbrenner syndrome) and related ciliopathies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cranioectodermal Dysplasia 1 (Sensenbrenner syndrome) | Loss-of-function mutations impair retrograde IFT, disrupting ciliary assembly and Hedgehog signaling | OMIM #218330 |
| Short-Rib Thoracic Dysplasia 1 with or without Polydactyly | Defective ciliary transport leads to skeletal abnormalities | OMIM #613091 |
| Nephronophthisis | Ciliary dysfunction in renal tubules causes progressive kidney disease | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 18.2 | Medium |
| Kidney | 12.5 | Medium |
| Lung | 10.8 | Medium |
| Brain | 8.3 | Low |
| Liver | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.4 | Embryonic kidney cell line |
| HeLa | 12.1 | Cervical carcinoma |
| HepG2 | 9.8 | Hepatocellular carcinoma |
| A549 | 8.5 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1760G>A (p.Arg587Gln) | Missense | Rare | Loss of function; disrupts IFT-A complex stability |
| c.2266C>T (p.Arg756*) | Nonsense | Rare | Premature truncation; loss of function |
| c.3343_3344del (p.Glu1115Argfs*3) | Frameshift | Rare | Loss of function; associated with Sensenbrenner syndrome |
Mutation functional classification
Loss of Function (LOF)
Most reported IFT122 mutations are loss-of-function, leading to impaired retrograde intraflagellar transport and ciliary defects.
Gain of Function (GOF)
No gain-of-function mutations have been reported for IFT122.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for IFT122.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Hedgehog signaling pathway (Reactome: R-HSA-5358351)
• Intraflagellar transport (Reactome: R-HSA-5620924)
• Cilium assembly (KEGG: hsa04520)
Protein Summary
IFT122 is a 122 kDa WD40-repeat protein that forms part of the IFT-A complex. It localizes to the ciliary base and axoneme, mediating retrograde transport of cargo from the ciliary tip to the cell body. The protein is essential for ciliary maintenance and Hedgehog signal transduction. Defects in IFT122 lead to ciliopathies characterized by skeletal, renal, and ectodermal abnormalities.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IFT122 Knockout HEK293 Cell Line | EDJ-KQ12054 | Human | 55764 | Details Get a Quote |
| IFT122 Knockout A-549 Cell Line | EDJ-KQ39433 | Human | 55764 | Details Get a Quote |
| IFT122 Knockout HCT 116 Cell Line | EDJ-KQ40695 | Human | 55764 | Details Get a Quote |
| IFT122 Knockout HeLa Cell Line | EDJ-KQ40696 | Human | 55764 | Details Get a Quote |
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