IFT27 Gene - Intraflagellar Transport 27
Essential Component of the IFT-B Complex in Ciliary Transport
Gene Information Card
| Symbol | IFT27 |
|---|---|
| Full Name | Intraflagellar Transport 27 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q12.3 |
| NCBI Gene ID | 26120 ncbi.nlm.nih.gov/gene/26120 |
| Ensembl ID | ENSG00000100220 |
| UniProt ID | Q9BW83 |
| OMIM ID | 615870 |
| HGNC ID | 18626 |
| Aliases | RABL4, IFT27, MGC12966 |
Description
IFT27 encodes a small GTPase of the Rab-like family that is a core component of the intraflagellar transport (IFT) complex B. It is essential for ciliary assembly and function, mediating the retrograde transport of signaling molecules within cilia. Mutations in IFT27 cause Bardet-Biedl syndrome type 19 (BBS19) and other ciliopathies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bardet-Biedl Syndrome 19 (BBS19) | Loss-of-function mutations impair IFT-B complex assembly, disrupting ciliary transport and leading to ciliopathy phenotypes. | OMIM #615870; ClinVar |
| Retinitis Pigmentosa | Defective ciliary transport in photoreceptor cells due to IFT27 dysfunction causes progressive retinal degeneration. | PubMed; ClinVar |
| Obesity and Renal Anomalies | Ciliary signaling defects in hypothalamic and renal cells contribute to metabolic and kidney abnormalities in BBS. | OMIM; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Brain | 6.1 | Low |
| Retina | 5.4 | Low |
| Liver | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Embryonic kidney cells |
| HeLa | 7.8 | Cervical cancer cells |
| ARPE-19 | 6.5 | Retinal pigment epithelial cells |
| HepG2 | 4.1 | Hepatocellular carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.296G>A (p.Arg99Gln) | Missense | Rare | Loss of GTPase activity; disrupts IFT-B binding |
| c.1A>G (p.Met1Val) | Start loss | Rare | Complete loss of protein expression |
| c.422_423del (p.Glu141Glyfs*4) | Frameshift | Rare | Premature truncation; loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported IFT27 mutations are loss-of-function, leading to impaired ciliary assembly and BBS19.
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)
| • intraflagellar transport (GO:0035735) | • protein binding (GO:0005515) |
| • GTP binding (GO:0005525) | • GTPase activity (GO:0003924) |
| • cilium assembly (GO:0060271) | • intraciliary transport (GO:0042073) |
Pathways
• Intraflagellar transport (IFT)
• Ciliopathy pathway (Bardet-Biedl syndrome)
• Hedgehog signaling pathway
Protein Summary
IFT27 is a 186-amino acid Rab-like GTPase that localizes to the basal body and ciliary axoneme. It interacts with other IFT-B complex subunits (e.g., IFT25, IFT88) to facilitate bidirectional transport of ciliary cargo. Its GTPase activity is regulated by the IFT-B complex and is critical for ciliary signaling, including Hedgehog pathway modulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IFT27 Knockout HEK293 Cell Line | EDJ-KQ7248 | Human | 11020 | Details Get a Quote |
| IFT27 Knockout A-549 Cell Line | EDJ-KQ32242 | Human | 11020 | Details Get a Quote |
| IFT27 Knockout HCT 116 Cell Line | EDJ-KQ32243 | Human | 11020 | Details Get a Quote |
| IFT27 Knockout HeLa Cell Line | EDJ-KQ32244 | Human | 11020 | Details Get a Quote |
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