IFT140: Intraflagellar Transport 140 – Key Ciliary Gene in Skeletal Dysplasias and Retinopathy
Comprehensive biomedical reference for IFT140, including gene card, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | IFT140 |
|---|---|
| Full Name | Intraflagellar Transport 140 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 9742 ncbi.nlm.nih.gov/gene/9742 |
| Ensembl ID | ENSG00000187566 |
| UniProt ID | Q96LB4 |
| OMIM ID | 614620 |
| HGNC ID | 29077 |
| Aliases | WDTC2, MZSDS, SRTD9, RP80 |
Description
IFT140 encodes a subunit of the intraflagellar transport (IFT) complex A, which is essential for retrograde ciliary transport and cilia assembly. Mutations in IFT140 cause a spectrum of ciliopathies, including Mainzer-Saldino syndrome, Jeune asphyxiating thoracic dystrophy, and isolated retinitis pigmentosa. The protein is involved in the movement of cargo from the ciliary tip to the base and is critical for ciliary signaling and maintenance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mainzer-Saldino syndrome | Loss of IFT140 function disrupts retrograde IFT, impairing ciliary signaling and leading to skeletal, renal, and retinal defects. | OMIM #266920; multiple IFT140 biallelic mutations reported in patients. |
| Jeune asphyxiating thoracic dystrophy (SRTD9) | Defective ciliary transport due to IFT140 mutations causes narrow thorax, short ribs, and skeletal dysplasia. | OMIM #266920; biallelic IFT140 variants identified in SRTD9 families. |
| Retinitis pigmentosa 80 (RP80) | IFT140 mutations impair photoreceptor cilia maintenance, leading to progressive retinal degeneration. | OMIM #617781; IFT140 variants found in autosomal recessive RP. |
| Nephronophthisis | Renal ciliary dysfunction from IFT140 loss contributes to tubulointerstitial nephritis and cystic kidney disease. | ClinVar; IFT140 mutations reported in nephronophthisis patients. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 18.5 | High |
| Kidney | 12.3 | Medium |
| Retina | 10.1 | Medium |
| Lung | 8.7 | Medium |
| Brain | 6.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| hTERT-RPE1 | 15.2 | Ciliated retinal pigment epithelial cell line |
| HEK293 | 11.8 | Embryonic kidney cells |
| ARPE-19 | 9.5 | Retinal pigment epithelial cells |
| HeLa | 7.3 | Cervical cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.634G>A (p.Gly212Arg) | Missense | Rare | Likely loss-of-function; disrupts IFT complex A assembly |
| c.1990C>T (p.Arg664Ter) | Nonsense | Rare | Loss-of-function; premature truncation of IFT140 |
| c.3073delC (p.Leu1025TrpfsTer3) | Frameshift | Rare | Loss-of-function; frameshift leading to truncated protein |
| c.4130A>G (p.Tyr1377Cys) | Missense | Rare | Uncertain significance; possibly damaging to protein stability |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function mutations (nonsense, frameshift, splice-site) cause severe ciliopathies such as Mainzer-Saldino syndrome and Jeune syndrome.
Gain of Function (GOF)
No gain-of-function mutations reported for IFT140.
Dominant Negative (DN)
No dominant-negative mutations reported; disease inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • intraflagellar transport complex A (GO:0030990) | • protein binding (GO:0005515) |
| • intraciliary retrograde transport (GO:0035721) | • cilium assembly (GO:0060271) |
| • cytoplasm (GO:0005737) |
Pathways
• Intraflagellar transport (IFT) – retrograde transport
• Ciliopathy pathway
• Hedgehog signaling pathway (ciliary-dependent)
Protein Summary
IFT140 is a 140 kDa protein component of the IFT complex A, which mediates retrograde transport along ciliary microtubules. It contains WD40 repeats that facilitate protein-protein interactions. The protein localizes to the ciliary base and tip, shuttling cargo back to the cell body. Defects in IFT140 impair ciliary disassembly and signaling, leading to multisystem ciliopathies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IFT140 Knockout HEK293 Cell Line | EDJ-KQ2836 | Human | 9742 | Details Get a Quote |
| IFT140 Knockout A-549 Cell Line | EDJ-KQ23822 | Human | 9742 | Details Get a Quote |
| IFT140 Knockout HCT 116 Cell Line | EDJ-KQ23823 | Human | 9742 | Details Get a Quote |
| IFT140 Knockout HeLa Cell Line | EDJ-KQ23824 | Human | 9742 | Details Get a Quote |
| Ift140 Knockout RAW 264.7 Cell Line | EDJ-KZ290 | Mouse | 106633 | Details Get a Quote |
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