KIF13B
Kinesin Family Member 13B
Gene Information Card
| Symbol | KIF13B |
|---|---|
| Full Name | kinesin family member 13B |
| Gene Type | protein-coding |
| Chromosomal Location | 8p12 |
| NCBI Gene ID | 23303 ncbi.nlm.nih.gov/gene/23303 |
| Ensembl ID | ENSG00000104419 |
| UniProt ID | Q9NQT8 |
| OMIM ID | 608366 |
| HGNC ID | 14405 |
| Aliases | KIAA0639, KIF13B, Kinesin-3, GAKIN |
Description
KIF13B encodes a member of the kinesin-3 family of microtubule-based motor proteins. The protein is involved in intracellular transport, including the movement of vesicles, organelles, and signaling molecules along microtubules. It plays roles in cell polarity, neuronal development, and immune cell function. Mutations and altered expression have been implicated in neurodevelopmental disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with intellectual disability and dysmorphic features | Loss-of-function mutations disrupt microtubule transport in neurons, impairing synaptic function and brain development | ClinVar, OMIM |
| Schizophrenia | Genetic association studies link KIF13B variants to increased risk; altered transport of neurotransmitter receptors | NCBI Gene, OMIM |
| Breast cancer | Overexpression of KIF13B may promote cell migration and invasion via enhanced vesicle trafficking | COSMIC, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Testis | 12.8 | Medium |
| Lung | 8.5 | Low |
| Kidney | 7.1 | Low |
| Liver | 3.4 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 18.5 | High expression |
| HeLa (cervical carcinoma) | 12.3 | Medium expression |
| MCF7 (breast cancer) | 9.8 | Low expression |
| HEK293 (embryonic kidney) | 6.2 | Low expression |
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.567G>A (p.Glu189Lys) | Missense | 0.02% | Altered ATP binding; reduced motility |
| c.2345_2348del (p.Thr782fs) | Frameshift | <0.01% | Loss of function; premature stop |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein, impairing microtubule binding and cargo transport.
Gain of Function (GOF)
Not well documented; some missense variants may enhance motor activity but evidence is limited.
Dominant Negative (DN)
Missense mutations in the motor domain may interfere with wild-type kinesin function, but dominant-negative effects are not firmly established.
View complete mutation data:
Gene Ontology (GO)
| • microtubule motor activity | • ATP binding |
| • microtubule binding | • intracellular transport |
| • vesicle-mediated transport | • cell division |
| • neuron projection development |
Pathways
• Kinesin-mediated transport
• Microtubule-based movement
• Vesicle trafficking
• Neurotransmitter receptor transport
Protein Summary
KIF13B is a kinesin-3 family motor protein that moves cargo along microtubules toward the plus end. It contains an N-terminal motor domain with ATPase activity, a coiled-coil stalk, and a C-terminal cargo-binding domain. The protein is essential for transporting vesicles, including those carrying signaling receptors, to the cell periphery. In neurons, it facilitates dendritic and axonal transport, influencing synaptic plasticity. In immune cells, it regulates T-cell receptor recycling. Dysregulation is linked to neurodevelopmental disorders and cancer metastasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KIF13B Knockout HEK293 Cell Line | EDJ-KQ7269 | Human | 23303 | Details Get a Quote |
| KIF13B Knockout A-549 Cell Line | EDJ-KQ33618 | Human | 23303 | Details Get a Quote |
| KIF13B Knockout HCT 116 Cell Line | EDJ-KQ33620 | Human | 23303 | Details Get a Quote |
| KIF13B Knockout HeLa Cell Line | EDJ-KQ33621 | Human | 23303 | Details Get a Quote |
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