From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
Kinesin light chain 2 is a protein that in humans is encoded by the KLC2 gene .[ 5] [ 6] A mutation in this gene is responsible for SPOAN syndrome , a particular genotype of hereditary spastic paraplegia .[ 7] [ 8]
KLC2 has been shown to interact with MAPK8IP3 [ 9] and KIF5B .[ 5] [ 10]
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 neuropathy (SPOAN), the symptoms characteristic to the syndrome.[ 7]
^ a b c GRCh38: Ensembl release 89: ENSG00000174996 – Ensembl , May 2017
^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024862 – Ensembl , May 2017
^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ a b 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 .
^ "Entrez Gene: KLC2 kinesin light chain 2" .
^ a b "Entry - #609541 - SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY; SPOAN - OMIM" . omim.org . Retrieved 2025-05-12 .
^ "SPOAN syndrome - National Organization for Rare Disorders" . rarediseases.org . Retrieved 2025-05-12 .
^ 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 .
^ 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 .
^ 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 .
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 : CB . 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 : MCP . 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 .