KLC2

Available structuresPDBOrtholog search:List of PDB id codes,

Available structures

PDBOrtholog search:

List of PDB id codes,

List of PDB id codes

Identifiers

Aliases, kinesin light chain 2

External IDsOMIM: ; MGI: ; HomoloGene: ; GeneCards: ; OMA:

Gene location ( Human )

Chr.Chromosome 11 (human)

Band 11q13.2 Start 66,257,294 bp

End66,267,860 bp

Gene location ( Mouse )

Chr.Chromosome 19 (mouse)

Band 19 A|19 4.25 cM Start 5,157,774 bp

End5,168,588 bp

RNA expression pattern

HumanMouse (ortholog)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 cortexsuperior 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

Human Mouse (ortholog)

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 cortexsuperior 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

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

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

Gene ontologyMolecular functionCellular componentBiological processSources: /

Gene ontology

Molecular function

Cellular component

Biological process

Sources: /

OrthologsSpeciesHumanMouseEntrez Ensembl UniProtRefSeq (mRNA)RefSeq (protein)n/aLocation (UCSC)PubMed search

Orthologs

Species Human Mouse

Entrez

Ensembl

UniProt

RefSeq (mRNA)

RefSeq (protein) n/a

n/a

Location (UCSC)

PubMed search

Wikidata

View/Edit HumanView/Edit Mouse

Kinesin light chain 2 is a protein that in humans is encoded by the KLC2 gene. This gene is responsible for SPOAN syndrome, a type of hereditary spastic paraplegia.

Interactions

KLC2 has been shown to interact with MAPK8IP3 and KIF5B.

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. The name derives from an acronym for spastic paraplegia, optic atrophy, and peripheral neuropathy (SPOAN), the symptoms characteristic to the syndrome. The cause is a homozygous deletion of 216 base pairs in KLC2 regulatory region. 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.

KLC2

Interactions

SPOAN syndrome

Further reading