KLC2: Kinesin Light Chain 2 – A Key Regulator of Intracellular Transport
Comprehensive gene card for KLC2, including genomic context, expression, mutations, and clinical relevance.
Gene Information Card
| Symbol | KLC2 |
|---|---|
| Full Name | kinesin light chain 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 64837 ncbi.nlm.nih.gov/gene/64837 |
| Ensembl ID | ENSG00000174996 |
| UniProt ID | Q9H0B6 |
| OMIM ID | 611729 |
| HGNC ID | 20713 |
| Aliases | KLC2A, KLC2B, KNS2 |
Description
KLC2 encodes a member of the kinesin light chain family, which associates with kinesin heavy chains to form heterotetrameric kinesin-1 motor complexes. These complexes transport cargoes such as vesicles, organelles, and macromolecules along microtubules toward the plus end. KLC2 is widely expressed and plays roles in neuronal transport, cell division, and intracellular signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary spastic paraplegia (HSP) | Mutations in KLC2 disrupt axonal transport of cargoes, leading to progressive lower limb spasticity and weakness. | PMID: 25480983; ClinVar |
| Charcot-Marie-Tooth disease type 2 | KLC2 variants impair mitochondrial and vesicular transport in peripheral neurons, causing axonal neuropathy. | PMID: 27657687; OMIM |
| Cancer (multiple types) | Altered KLC2 expression affects mitotic spindle positioning and cell polarity, contributing to tumorigenesis. | COSMIC; PMID: 29395067 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 8.3 | Medium |
| Lung | 6.1 | Medium |
| Liver | 4.2 | Low |
| Heart | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | Neuronal model |
| HeLa (cervical carcinoma) | 9.7 | Epithelial |
| HepG2 (hepatocellular carcinoma) | 5.4 | Liver-derived |
| A549 (lung carcinoma) | 7.1 | Lung epithelial |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339*) | Nonsense | <0.01% | Loss of function; truncated protein |
| c.124G>A (p.Glu42Lys) | Missense | 0.02% | Altered cargo binding |
| c.1678_1680del (p.Lys560del) | In-frame deletion | <0.01% | Impaired kinesin-1 assembly |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein or prevent proper folding, leading to reduced kinesin-1 motor activity.
Gain of Function (GOF)
Not well documented; no common gain-of-function variants reported.
Dominant Negative (DN)
Missense mutations in the tetratricopeptide repeat (TPR) domain that disrupt cargo binding and inhibit wild-type function.
View complete mutation data：
Gene Ontology (GO)
| • microtubule motor activity | • protein binding |
| • ATP binding | • microtubule-based movement |
| • intracellular transport | • vesicle-mediated transport |
Pathways
• Kinesin-mediated transport (Reactome R-HSA-983189)
• Axonal transport (KEGG hsa04728)
• Vesicle trafficking (GO:0016192)
Protein Summary
KLC2 is a 622-amino-acid protein containing an N-terminal heptad repeat region for heavy chain interaction and C-terminal tetratricopeptide repeats (TPRs) that mediate cargo recognition. It is essential for kinesin-1 processivity and directional transport. Post-translational modifications include phosphorylation and ubiquitination, which regulate its stability and cargo selectivity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KLC2 Knockout HEK293 Cell Line | EDJ-KQ13944 | Human | 64837 | Details Get a Quote |
| KLC2 Knockout HCT 116 Cell Line | EDJ-KQ43859 | Human | 64837 | Details Get a Quote |
| KLC2 Knockout HeLa Cell Line | EDJ-KQ43860 | Human | 64837 | Details Get a Quote |
| KLC2 Knockout A-549 Cell Line | EDJ-KQ65598 | Human | 64837 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
