KLC2 Gene Summary [Human]
The protein encoded by this gene is a light chain of kinesin, a molecular motor responsible for moving vesicles and organelles along microtubules. Defects in this gene are a cause of spastic paraplegia, optic atrophy, and neuropathy (SPOAN) syndrome. [provided by RefSeq, Mar 2016]
Details
| Type | Protein Coding |
| Official Symbol | KLC2 |
| Official Name | kinesin light chain 2 [Source:HGNC Symbol;Acc:HGNC:20716] |
| Ensembl ID | ENSG00000174996 |
| Bio databases IDs | |
| Aliases | kinesin light chain 2 |
| Synonyms | 8030455F02RIK, kinesin light chain 2, Klc2 predicted, SPOAN |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human KLC2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- MalT-like TPR region
- type IV pilus biogenesis/stability protein PilW
- Tetratricopeptide repeats
- coiled-coil domain
- protein binding
- tetratricopeptide repeat
- kinesin binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- spastic paraplegia, optic atrophy, and neuropathy
role in cell
- phosphorylation in
- expression in
- formation
- formation in
- survival
- localization
- quantity
- growth
- transport
- movement by
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Plasma Membrane
- Mitochondria
- cytosol
- ciliary rootlet
- nucleoplasm
- neurites
- perikaryon
- axons
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human KLC2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- lysosome localization
- microtubule-based movement
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- membrane
- kinesin I complex
- mitochondrion
- cytosol
- kinesin complex
- macromolecular complex
- lysosomal membrane
- plasma membrane
- nucleoplasm
- microtubule
Molecular Function
What the gene product does at the molecular level
- protein binding
- cadherin binding
- kinesin binding