KLC2

KLC2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3CEQ, 3EDT
Identifiers
Aliases	KLC2 , kinesin light chain 2
External IDs	OMIM: 611729; MGI: 107953; HomoloGene: 22468; GeneCards: KLC2; OMA:KLC2 - orthologs
Gene location (Human) Chr. Chromosome 11 (human) [1] Band 11q13.2 Start 66,257,294 bp [1] End 66,267,860 bp [1]
Gene location (Mouse) Chr. Chromosome 19 (mouse) [2] Band 19 A|19 4.25 cM Start 5,157,774 bp [2] End 5,168,588 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right hemisphere of cerebellum right frontal lobe prefrontal cortex Brodmann area 9 anterior cingulate cortex right testis endothelial cell left testis anterior pituitary primary visual cortex Top expressed in superior frontal gyrus primary visual cortex cerebellar cortex dentate gyrus of hippocampal formation granule cell neural layer of retina pontine nuclei superior colliculus inferior colliculi muscle of thigh medulla oblongata More reference expression data BioGPS More reference expression data
Gene ontology Molecular function microtubule motor activity protein binding kinesin binding cadherin binding Cellular component cytoplasm cytosol microtubule cytoskeleton membrane kinesin I complex kinesin complex nucleoplasm mitochondrion plasma membrane protein-containing complex Biological process microtubule-based movement antigen processing and presentation of exogenous peptide antigen via MHC class II retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 64837 16594 Ensembl ENSG00000174996 ENSMUSG00000024862 UniProt Q9H0B6 O88448 RefSeq (mRNA) NM_001134774 NM_001134775 NM_001134776 NM_022822 NM_001318734 NM_008451 NM_001369360 NM_001369361 NM_001369362 RefSeq (protein) NP_001128246 NP_001128247 NP_001128248 NP_001305663 NP_073733 n/a Location (UCSC) Chr 11: 66.26 – 66.27 Mb Chr 19: 5.16 – 5.17 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Kinesin light chain 2 is a protein that in humans is encoded by the KLC2 gene. ^{[5] [6]} This gene is responsible for SPOAN syndrome, a type of hereditary spastic paraplegia. ^{[7] [8]}

Interactions

KLC2 has been shown to interact with MAPK8IP3 ^[9] and KIF5B. ^{[5] [10]}

SPOAN syndrome

SPOAN syndrome was first discovered by a research group led by Silvana Santos in the Serrinha dos Pintos area of Northeast Brazil known for high levels of inbreeding. ^[11] The name derives from an acronym for spastic paraplegia, optic atrophy, and peripheral neuropathy (SPOAN), the symptoms characteristic to the syndrome. ^[7] The cause is a homozygous deletion of 216 base pairs in KLC2 regulatory region. ^[12] This homozygous deletion has been found in more than 70 individuals from Rio Grande do Norte backlands and siblings in Egypt; the mutation origin was in Iberian Peninsula over 485 years ago. ^[13]

References

1. GRCh38: Ensembl release 89: ENSG00000174996 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000024862 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Rahman A, Friedman DS, Goldstein LS (Jun 1998). "Two kinesin light chain genes in mice. Identification and characterization of the encoded proteins". The Journal of Biological Chemistry. 273 (25): 15395–15403. doi: 10.1074/jbc.273.25.15395 . PMID   9624122.
6. "Entrez Gene: KLC2 kinesin light chain 2".
7. "Entry - #609541 - SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY; SPOAN - OMIM". omim.org. Retrieved 2025-05-12.
8. "SPOAN syndrome - National Organization for Rare Disorders". rarediseases.org. Retrieved 2025-05-12.
9. Bowman AB, Kamal A, Ritchings BW, Philp AV, McGrail M, Gindhart JG, et al. (Nov 2000). "Kinesin-dependent axonal transport is mediated by the sunday driver (SYD) protein". Cell. 103 (4): 583–594. doi: 10.1016/S0092-8674(00)00162-8 . PMID   11106729. S2CID   247102.
10. Rahman A, Kamal A, Roberts EA, Goldstein LS (Sep 1999). "Defective kinesin heavy chain behavior in mouse kinesin light chain mutants". The Journal of Cell Biology. 146 (6): 1277–1288. doi:10.1083/jcb.146.6.1277. PMC   2156125 . PMID   10491391.
11. Kok F, Weller M, de Paiva FR, Otto PA, Santos S (April 2010). "Inbreeding levels in Northeast Brazil: Strategies for the prospecting of new genetic disorders". Genetics and Molecular Biology. 33 (2): 220–223. doi:10.1590/S1415-47572010005000020. ISSN   1678-4685. PMC   3036858 . PMID   21637472.
12. Melo US, Macedo-Souza LI, Figueiredo T, Muotri AR, Gleeson JG, Coux G, et al. (18 September 2015). "Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome". Human Molecular Genetics: ddv388. doi:10.1093/hmg/ddv388. hdl: 11336/29433 .
13. Farias AA, Nunes K, Lemes RB, Moura R, Fernandes GR, Melo US, et al. (8 November 2018). "Origin and age of the causative mutations in KLC2, IMPA1, MED25 and WNT7A unravelled through Brazilian admixed populations". Scientific Reports. 8 (1). doi:10.1038/s41598-018-35022-1. PMC   6224410 .

Further reading

• Hartley JL, Temple GF, Brasch MA (Nov 2000). "DNA cloning using in vitro site-specific recombination". Genome Research. 10 (11): 1788–1795. doi:10.1101/gr.143000. PMC   310948 . PMID   11076863.
• Bowman AB, Kamal A, Ritchings BW, Philp AV, McGrail M, Gindhart JG, et al. (Nov 2000). "Kinesin-dependent axonal transport is mediated by the sunday driver (SYD) protein". Cell. 103 (4): 583–594. doi: 10.1016/S0092-8674(00)00162-8 . PMID   11106729. S2CID   247102.
• Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, et al. (Mar 2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Research. 11 (3): 422–435. doi:10.1101/gr.GR1547R. PMC   311072 . PMID   11230166.
• Simpson JC, Wellenreuther R, Poustka A, Pepperkok R, Wiemann S (Sep 2000). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Reports. 1 (3): 287–292. doi:10.1093/embo-reports/kvd058. PMC   1083732 . PMID   11256614.
• Newsome TP, Scaplehorn N, Way M (Oct 2004). "SRC mediates a switch from microtubule- to actin-based motility of vaccinia virus". Science. 306 (5693). New York, N.Y.: 124–129. Bibcode:2004Sci...306..124N. doi:10.1126/science.1101509. PMID   15297625. S2CID   45392007.
• Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villén J, Li J, et al. (Aug 2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proceedings of the National Academy of Sciences of the United States of America. 101 (33): 12130–12135. Bibcode:2004PNAS..10112130B. doi: 10.1073/pnas.0404720101 . PMC   514446 . PMID   15302935.
• Jin J, Smith FD, Stark C, Wells CD, Fawcett JP, Kulkarni S, et al. (Aug 2004). "Proteomic, functional, and domain-based analysis of in vivo 14-3-3 binding proteins involved in cytoskeletal regulation and cellular organization". Current Biology. 14 (16): 1436–1450. Bibcode:2004CBio...14.1436J. CiteSeerX   10.1.1.323.5263 . doi: 10.1016/j.cub.2004.07.051 . PMID   15324660. S2CID   2371325.
• Wiemann S, Arlt D, Huber W, Wellenreuther R, Schleeger S, Mehrle A, et al. (Oct 2004). "From ORFeome to biology: a functional genomics pipeline". Genome Research. 14 (10B): 2136–2144. doi:10.1101/gr.2576704. PMC   528930 . PMID   15489336.
• Benzinger A, Muster N, Koch HB, Yates JR, Hermeking H (Jun 2005). "Targeted proteomic analysis of 14-3-3 sigma, a p53 effector commonly silenced in cancer". Molecular & Cellular Proteomics. 4 (6): 785–795. doi: 10.1074/mcp.M500021-MCP200 . PMID   15778465.
• Mehrle A, Rosenfelder H, Schupp I, del Val C, Arlt D, Hahne F, et al. (Jan 2006). "The LIFEdb database in 2006". Nucleic Acids Research. 34 (Database issue): D415 –D418. doi:10.1093/nar/gkj139. PMC   1347501 . PMID   16381901.
• Lim J, Hao T, Shaw C, Patel AJ, Szabó G, Rual JF, et al. (May 2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell. 125 (4): 801–814. doi: 10.1016/j.cell.2006.03.032 . PMID   16713569. S2CID   13709685.
• Beausoleil SA, Villén J, Gerber SA, Rush J, Gygi SP (Oct 2006). "A probability-based approach for high-throughput protein phosphorylation analysis and site localization". Nature Biotechnology. 24 (10): 1285–1292. doi:10.1038/nbt1240. PMID   16964243. S2CID   14294292.
• Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, et al. (Nov 2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–648. doi: 10.1016/j.cell.2006.09.026 . PMID   17081983. S2CID   7827573.
• Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, et al. (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Molecular Systems Biology. 3 (1): 89. doi:10.1038/msb4100134. PMC   1847948 . PMID   17353931.