KLC2

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]

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
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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]