KLC2
entrez
64837
canonical
uniprot
Q9H0B6
canonical
ensembl
ENSG00000174996
resolver
ensp
ENSP00000314837
resolver
ensp
ENSP00000377631
resolver
ensp
ENSP00000399403
resolver
ensp
ENSP00000408484
resolver
ensp
ENSP00000522094
resolver
ensp
ENSP00000522095
resolver
ensp
ENSP00000786620
resolver
ensp
ENSP00000786621
resolver
genesymbol
KLC2
resolver
hgnc
HGNC:20716
resolver
uniprot
A8MXL7
resolver
uniprot
B2RDY4
resolver
uniprot
Q9H9C8
resolver
uniprot
Q9HA20
resolver
uniprot_entry
KLC2_HUMAN
resolver
uniprot_sec
A8MXL7
resolver
uniprot_sec
B2RDY4
resolver
uniprot_sec
Q9H9C8
resolver
uniprot_sec
Q9HA20
resolver
amino_acid_sequence
MAMMVFPREEKLSQDEIVLGTKAVIQGLETLRGEHRALLAPLVAPEAGEAEPGSQERCILLRRSLEAIELGLGEAQVILALSSHLGAVESEKQKLRAQVRRLVQENQWLREELAGTQQKLQRSEQAVAQLEEEKQHLLFMSQIRKLDEDASPNEEKGDVPKDTLDDLFPNEDEQSPAPSPGGGDVSGQHGGYEIPARLRTLHNLVIQYASQGRYEVAVPLCKQALEDLEKTSGHDHPDVATMLNILALVYRDQNKYKEAAHLLNDALAIREKTLGKDHPAVAATLNNLAVLYGKRGKYKEAEPLCKRALEIREKVLGKFHPDVAKQLSNLALLCQNQGKAEEVEYYYRRALEIYATRLGPDDPNVAKTKNNLASCYLKQGKYQDAETLYKEILTRAHEKEFGSVNGDNKPIWMHAEEREESKDKRRDSAPYGEYGSWYKACKVDSPTVNTTLRSLGALYRRQGKLEAAHTLEDCASRNRKQGLDPASQTKVVELLKDGSGRRGDRRSSRDMAGGAGPRSESDLEDVGPTAEWNGDGSGSLRRSGSFGKLRDALRRSSEMLVKKLQGGTPQEPPNPRMKRASSLNFLNKSVEEPTQPGGTGLSDSRTLSSSSMDLSRRSSLVG
uniprot
proteins
disease_involvement
DISEASE: Spastic paraplegia, optic atrophy, and neuropathy (SPOAN) [MIM:609541]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPOAN is characterized by spastic paraplegia with progressive joint contractures and spine deformities, loss of independent ambulation by age 10 years, sub-normal vision secondary to congenital optic atrophy, and neuropathy. Inheritance is autosomal recessive. {ECO:0000269|PubMed:26385635}. Note=The gene represented in this entry is involved in disease pathogenesis. The disease is caused by a homozygous deletion in the non-coding region of the KLC2 gene. {ECO:0000269|PubMed:26385635}.
uniprot
proteins
function
FUNCTION: Kinesin is a microtubule-associated force-producing protein that plays a role in organelle transport. The light chain functions in coupling of cargo to the heavy chain or in the modulation of its ATPase activity (Probable). Through binding with PLEKHM2 and ARL8B, recruits kinesin-1 to lysosomes and hence direct lysosomes movement toward microtubule plus ends (PubMed:22172677). {ECO:0000269|PubMed:22172677, ECO:0000305|PubMed:22172677}.
uniprot
proteins
mass_dalton
68935
uniprot
proteins
protein_family
Kinesin light chain family
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
16964243
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22172677
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
26385635
uniprot
proteins
sequence_length
622
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000305}. Lysosome membrane {ECO:0000269|PubMed:22172677}; Peripheral membrane protein {ECO:0000305|PubMed:22172677}; Cytoplasmic side {ECO:0000305|PubMed:22172677}.
uniprot
proteins