KIF3B
Kinesin Family Member 3B
Gene Information Card
| Symbol | KIF3B |
|---|---|
| Full Name | kinesin family member 3B |
| Gene Type | protein-coding |
| Chromosomal Location | 20q11.21 |
| NCBI Gene ID | 9371 ncbi.nlm.nih.gov/gene/9371 |
| Ensembl ID | ENSG00000101350 |
| UniProt ID | O15066 |
| OMIM ID | 603754 |
| HGNC ID | 6320 |
| Aliases | KLP-11, KIF3B, FLA10 |
Description
KIF3B encodes a member of the kinesin superfamily of microtubule-associated motor proteins. This protein is a subunit of the heterotrimeric kinesin-II complex, which is essential for intraflagellar transport (IFT) in cilia and flagella. KIF3B functions as a plus-end-directed motor that transports cargo along microtubules, playing a critical role in ciliogenesis, cell motility, and sensory perception.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary ciliary dyskinesia (PCD) | Defective IFT due to KIF3B loss-of-function impairs ciliary motility and mucociliary clearance | ClinVar, OMIM |
| Retinitis pigmentosa | Disrupted ciliary transport in photoreceptor cells leads to progressive retinal degeneration | OMIM, NCBI |
| Polycystic kidney disease | Aberrant ciliary signaling and cyst formation linked to KIF3B dysfunction | NCBI, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Medium |
| Lung | 6.1 | Low |
| Kidney | 5.4 | Low |
| Retina | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.3 | Cervical adenocarcinoma |
| HEK 293 | 9.7 | Embryonic kidney |
| A549 | 7.2 | Lung carcinoma |
| HepG2 | 6.5 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function; truncation of motor domain |
| c.567_568del (p.Glu190fs) | Frameshift | <0.01% | Loss of function; premature termination |
| c.890G>A (p.Arg297His) | Missense | 0.02% | Unknown significance; potential impact on ATP binding |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg412*, p.Glu190fs) lead to truncated or absent protein, impairing IFT and ciliary function.
Gain of Function (GOF)
No gain-of-function mutations reported for KIF3B.
Dominant Negative (DN)
No dominant-negative mutations documented; KIF3B functions as part of a heterotrimeric complex, and haploinsufficiency may contribute to disease.
View complete mutation data：
Gene Ontology (GO)
| • microtubule motor activity | • ATP binding |
| • intraflagellar transport | • cilium assembly |
| • protein transport | • microtubule-based movement |
Pathways
• Intraflagellar transport (IFT)
• Hedgehog signaling pathway
• Ciliary assembly and maintenance
Protein Summary
KIF3B is a 747-amino-acid protein (UniProt O15066) that contains an N-terminal motor domain with ATPase activity and a coiled-coil region for dimerization. It forms a heterotrimeric complex with KIF3A and KAP3 (KIFAP3) to mediate anterograde IFT along ciliary microtubules. The protein is essential for ciliogenesis, cell polarity, and sensory transduction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KIF3B Knockout HEK293 Cell Line | EDJ-KQ6562 | Human | 9371 | Details Get a Quote |
| KIF3B Knockout HCT 116 Cell Line | EDJ-KQ29417 | Human | 9371 | Details Get a Quote |
| KIF3B Knockout A-549 Cell Line | EDJ-KQ30765 | Human | 9371 | Details Get a Quote |
| KIF3B Knockout HeLa Cell Line | EDJ-KQ30766 | Human | 9371 | Details Get a Quote |
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