KIF7
Kinesin Family Member 7: A Key Regulator of Hedgehog Signaling and Ciliary Function
Gene Information Card
| Symbol | KIF7 |
|---|---|
| Full Name | Kinesin Family Member 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q26.1 |
| NCBI Gene ID | 374654 ncbi.nlm.nih.gov/gene/374654 |
| Ensembl ID | ENSG00000166813 |
| UniProt ID | Q2M1P5 |
| OMIM ID | 611254 |
| HGNC ID | 30497 |
| Aliases | DKFZp686B2420, FLJ32776, MGC138290, MGC138291 |
Description
KIF7 encodes a kinesin family member 7 protein that functions as a microtubule-based motor protein essential for Hedgehog signaling transduction and ciliary assembly. It localizes to the primary cilium and regulates the trafficking of Gli transcription factors, thereby controlling developmental patterning. Mutations in KIF7 cause a spectrum of ciliopathies including Joubert syndrome, Acrocallosal syndrome, and hydrolethalus syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Joubert syndrome 12 | Loss of KIF7 function disrupts ciliary Hedgehog signaling, leading to cerebellar vermis hypoplasia and molar tooth sign | OMIM #200990 |
| Acrocallosal syndrome | KIF7 mutations impair Gli processing, causing corpus callosum agenesis, polydactyly, and craniofacial defects | OMIM #200990 |
| Hydrolethalus syndrome 2 | Defective KIF7-mediated ciliary transport results in severe neural tube defects and hydrocephalus | OMIM #614120 |
| Greig cephalopolysyndactyly syndrome | KIF7 variants alter Hedgehog pathway output, leading to polysyndactyly and craniofacial anomalies | OMIM #175700 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Medium |
| Testis | 4.8 | Medium |
| Kidney | 3.1 | Low |
| Lung | 2.5 | Low |
| Liver | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 6.0 | Embryonic kidney cells; moderate expression |
| SH-SY5Y | 4.5 | Neuroblastoma cells; relevant for neural studies |
| HeLa | 3.2 | Cervical carcinoma cells; low expression |
| HepG2 | 2.1 | Hepatocellular carcinoma cells; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.325C>T (p.Arg109*) | Nonsense | Rare | Loss of function; truncation of motor domain |
| c.1468C>T (p.Arg490Trp) | Missense | Rare | Impaired ciliary localization and Hedgehog signaling |
| c.2345_2346del (p.Leu782fs) | Frameshift | Rare | Loss of function; premature termination |
| c.3610G>A (p.Gly1204Arg) | Missense | Rare | Dominant negative effect on Gli trafficking |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg109*, p.Leu782fs) cause premature termination, leading to truncated non-functional protein and disrupted Hedgehog signaling.
Gain of Function (GOF)
No gain-of-function mutations have been reported for KIF7.
Dominant Negative (DN)
Missense mutations such as p.Gly1204Arg may interfere with wild-type KIF7 function, impairing ciliary transport and Gli processing.
View complete mutation data：
Gene Ontology (GO)
| • microtubule motor activity | • ATP binding |
| • ciliary tip | • Hedgehog signaling pathway |
| • cilium assembly | • intraflagellar transport |
| • protein localization to cilium |
Pathways
• Hedgehog signaling pathway
• Ciliary transport pathway
• Gli protein processing
Protein Summary
KIF7 is a kinesin motor protein that localizes to the primary cilium and mediates anterograde transport along microtubules. It is critical for the proper transduction of Hedgehog signals by regulating the ciliary entry and exit of Gli transcription factors. Loss of KIF7 function leads to aberrant Gli processing, resulting in developmental disorders characterized by brain malformations, polydactyly, and craniofacial defects.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KIF7 Knockout HEK293 Cell Line | EDJ-KQ905 | Human | 374654 | Details Get a Quote |
| KIF7 Knockout A-549 Cell Line | EDJ-KQ19756 | Human | 374654 | Details Get a Quote |
| KIF7 Knockout HCT 116 Cell Line | EDJ-KQ19757 | Human | 374654 | Details Get a Quote |
| KIF7 Knockout HeLa Cell Line | EDJ-KQ19758 | Human | 374654 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
