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.

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 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
Displaying Records 1 To 4 Of 4 Records
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