KLC2
Kinesin light chain 2
Also known as: FLJ12387, KLC2_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9H0B6
- Gene
- KLC2
- Ensembl
- ENSG00000174996
- Chromosome
- 11
- Canonical length
- 622 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Plasma membrane,Mitochondria,Cytosol
OverviewNCBI Gene
The protein encoded by this gene is a light chain of kinesin, a molecular motor responsible for moving vesicles and organelles along microtubules. Defects in this gene are a cause of spastic paraplegia, optic atrophy, and neuropathy (SPOAN) syndrome. [provided by RefSeq, Mar 2016]
Canonical amino-acid sequenceUniProt
622 residues, UniProt reviewed canonical sequence.
>Q9H0B6|KLC2
1 MAMMVFPREE KLSQDEIVLG TKAVIQGLET LRGEHRALLA PLVAPEAGEA EPGSQERCIL
61 LRRSLEAIEL GLGEAQVILA LSSHLGAVES EKQKLRAQVR RLVQENQWLR EELAGTQQKL
121 QRSEQAVAQL EEEKQHLLFM SQIRKLDEDA SPNEEKGDVP KDTLDDLFPN EDEQSPAPSP
181 GGGDVSGQHG GYEIPARLRT LHNLVIQYAS QGRYEVAVPL CKQALEDLEK TSGHDHPDVA
241 TMLNILALVY RDQNKYKEAA HLLNDALAIR EKTLGKDHPA VAATLNNLAV LYGKRGKYKE
301 AEPLCKRALE IREKVLGKFH PDVAKQLSNL ALLCQNQGKA EEVEYYYRRA LEIYATRLGP
361 DDPNVAKTKN NLASCYLKQG KYQDAETLYK EILTRAHEKE FGSVNGDNKP IWMHAEEREE
421 SKDKRRDSAP YGEYGSWYKA CKVDSPTVNT TLRSLGALYR RQGKLEAAHT LEDCASRNRK
481 QGLDPASQTK VVELLKDGSG RRGDRRSSRD MAGGAGPRSE SDLEDVGPTA EWNGDGSGSL
541 RRSGSFGKLR DALRRSSEML VKKLQGGTPQ EPPNPRMKRA SSLNFLNKSV EEPTQPGGTG
601 LSDSRTLSSS SMDLSRRSSL VGLocalizationUniProt · AlphaFold · HPA
Whether an antibody against KLC2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.44
- Highest tissue expression
- 147 nTPM
Expression across tissuesHPA
Tissue
- cerebellum: 147 nTPM
- cerebral cortex: 98 nTPM
- hippocampal formation: 56 nTPM
- skeletal muscle: 54 nTPM
- basal ganglia: 48 nTPM
- hypothalamus: 47 nTPM
Single-cell type
- brain excitatory neurons: 43 nCPM
- early primary spermatocytes: 39 nCPM
- other brain neurons: 31 nCPM
- retinal horizontal cells: 30 nCPM
- alveolar cells type 1: 29 nCPM
- brain inhibitory neurons: 29 nCPM
Immune cell
- naive B-cell: 3.2 nTPM
- MAIT T-cell: 3.1 nTPM
- gdT-cell: 2.4 nTPM
- plasmacytoid DC: 2.1 nTPM
- memory B-cell: 1.9 nTPM
- memory CD8 T-cell: 1.6 nTPM
Brain region
- cerebral cortex: 234 nTPM
- pons: 156 nTPM
- white matter: 144 nTPM
- cerebellum: 141 nTPM
- hippocampal formation: 129 nTPM
- medulla oblongata: 121 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about KLC2.
Disease | AllUniProt
Conditions KLC2 is implicated in, by any mechanism.
- Spastic paraplegia, optic atrophy, and neuropathy (SPOAN) MIM:609541
Disease | GeneticClinVar
2 pathogenic / likely-pathogenic of 211 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Spastic paraplegia, optic atropy, and neuropathy
- See cases
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.32
- gnomAD pLI
- 0.98
- gnomAD missense Z
- 2.02
- DepMap mean gene effect
- -0.41
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of KLC2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads KLC2 as an antibody target. Whether an autoantibody or antibody against KLC2 could matter depends on whether native KLC2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
KLC2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label KLC2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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