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KLC2 kinesin light chain 2 [ Homo sapiens (human) ]

Gene ID: 64837, updated on 20-Apr-2024

Summary

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Official Symbol
KLC2provided by HGNC
Official Full Name
kinesin light chain 2provided by HGNC
Primary source
HGNC:HGNC:20716
See related
Ensembl:ENSG00000174996 MIM:611729; AllianceGenome:HGNC:20716
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
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]
Expression
Broad expression in brain (RPKM 19.0), testis (RPKM 14.0) and 23 other tissues See more
Orthologs
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Genomic context

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Location:
11q13.2
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (66243938..66267860)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (66250965..66261532)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (66024759..66035331)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene phosphofurin acidic cluster sorting protein 1 Neighboring gene small nucleolar RNA U13 Neighboring gene uncharacterized LOC105369354 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5036 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65990246-65990746 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65990747-65991247 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:66006167-66006678 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:66006679-66007190 Neighboring gene uncharacterized LOC124902694 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:66021063-66021564 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3581 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:66025772-66026740 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:66033680-66034562 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3583 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3584 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5039 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5040 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5041 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:66036329-66037210 Neighboring gene KLC2 antisense RNA 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:66039357-66040556 Neighboring gene uncharacterized LOC107984340 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3585 Neighboring gene KLC2 antisense RNA 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:66049917-66050420 Neighboring gene RAB1B, member RAS oncogene family Neighboring gene cornichon family AMPA receptor auxiliary protein 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. The light chains of kinesin-1 are autoinhibited. Yip YY, et al. Proc Natl Acad Sci U S A, 2016 Mar 1. PMID 26884162, Free PMC Article
  2. Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome. Melo US, et al. Hum Mol Genet, 2015 Dec 15. PMID 26385635, Free PMC Article
  3. Crystal structures of the tetratricopeptide repeat domains of kinesin light chains: insight into cargo recognition mechanisms. Zhu H, et al. PLoS One, 2012. PMID 22470497, Free PMC Article
  4. Role of kinesin light chain-2 of kinesin-1 in the traffic of Na,K-ATPase-containing vesicles in alveolar epithelial cells. Trejo HE, et al. FASEB J, 2010 Feb. PMID 19773350, Free PMC Article
  5. Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13. Macedo-Souza LI, et al. Ann Neurol, 2005 May. PMID 15852396

See all (89) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The kinesin light chain-2, a target of mRNA stabilizing protein HuR, inhibits p53 protein phosphorylation to promote radioresistance in NSCLC.
    Title: The kinesin light chain-2, a target of mRNA stabilizing protein HuR, inhibits p53 protein phosphorylation to promote radioresistance in NSCLC.
  2. a homozygous 216-bp deletion located at the non-coding upstream region of the KLC2 gene in patients with SPOAN syndrome causes overexpression of the gene
    Title: Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome.
  3. Results identified KLC2 as a novel target and of miR-125b in non-small-cell lung cancer (NSCLC) and show the oncogenic potential of KLC2 in the progression of NSCLC.
    Title: High expression of kinesin light chain-2, a novel target of miR-125b, is associated with poor clinical outcome of elderly non-small-cell lung cancer patients.
  4. For the binding of cargos shared by KLC2, we propose a different site located within the groove but not involving N343.
    Title: Crystal structures of the tetratricopeptide repeat domains of kinesin light chains: insight into cargo recognition mechanisms.
  5. Na,K-ATPase traffic toward the plasma membrane in alveolar epithelial cells is driven by kinesin-1, where KLC2 is the isoform regulating this process.
    Title: Role of kinesin light chain-2 of kinesin-1 in the traffic of Na,K-ATPase-containing vesicles in alveolar epithelial cells.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Spastic paraplegia, optic atropy, and neuropathy
MedGen: C1836010 OMIM: 609541 GeneReviews: Not available
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EBI GWAS Catalog

Description
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ12387

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cadherin binding HDA PubMed 
enables kinesin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables kinesin binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in lysosome localization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in microtubule-based movement IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
part_of kinesin I complex NAS
Non-traceable Author Statement
more info
 PubMed 
part_of kinesin complex ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in lysosomal membrane IEA
Inferred from Electronic Annotation
more info
  
located_in membrane HDA PubMed 
located_in microtubule IEA
Inferred from Electronic Annotation
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
  
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
kinesin light chain 2
Names
KLC 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_046774.2 RefSeqGene

    Range
    18767..28924
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001134774.2 → NP_001128246.1  kinesin light chain 2 isoform 2

    See identical proteins and their annotated locations for NP_001128246.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) omits an in-frame coding exon resulting in a shorter protein isoform (2) compared to variant 1. It also reflects use of an alternate splice acceptor site in exon 2.
    Source sequence(s)
    AK022907, AK094593, AP001107, BE882786, BP214296
    Consensus CDS
    CCDS44653.1
    UniProtKB/TrEMBL
    A8MZ87
    Related
    ENSP00000408484.1, ENST00000421552.5
    Conserved Domains (3) summary
    sd00006
    Location:205 → 233
    TPR; TPR repeat [structural motif]
    pfam13374
    Location:204 → 245
    TPR_10; Tetratricopeptide repeat
    pfam13424
    Location:159 → 237
    TPR_12; Tetratricopeptide repeat

  2. NM_001134775.2 → NP_001128247.1  kinesin light chain 2 isoform 1

    See identical proteins and their annotated locations for NP_001128247.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents an alternate 5' UTR and encodes the longer protein isoform (1). The same protein is encoded by transcript variants 1, 3, 4, and 5.
    Source sequence(s)
    AL136864, AP000759, AP001107, DA291004, DA773222
    Consensus CDS
    CCDS8130.1
    UniProtKB/Swiss-Prot
    A8MXL7, B2RDY4, Q9H0B6, Q9H9C8, Q9HA20
    Related
    ENSP00000399403.1, ENST00000417856.5
    Conserved Domains (4) summary
    sd00006
    Location:282 → 310
    TPR; TPR repeat [structural motif]
    pfam13424
    Location:238 → 314
    TPR_12; Tetratricopeptide repeat
    cl19252
    Location:76 → 149
    MreC; rod shape-determining protein MreC
    cl25732
    Location:9 → 139
    SMC_N; RecF/RecN/SMC N terminal domain

  3. NM_001134776.2 → NP_001128248.1  kinesin light chain 2 isoform 1

    See identical proteins and their annotated locations for NP_001128248.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) represents an alternate 5' UTR and encodes the longer protein isoform (1). The same protein is encoded by transcript variants 1, 3, 4, and 5.
    Source sequence(s)
    AL136864, AP001107, DA198727, DB136312
    Consensus CDS
    CCDS8130.1
    UniProtKB/Swiss-Prot
    A8MXL7, B2RDY4, Q9H0B6, Q9H9C8, Q9HA20
    Conserved Domains (4) summary
    sd00006
    Location:282 → 310
    TPR; TPR repeat [structural motif]
    pfam13424
    Location:238 → 314
    TPR_12; Tetratricopeptide repeat
    cl19252
    Location:76 → 149
    MreC; rod shape-determining protein MreC
    cl25732
    Location:9 → 139
    SMC_N; RecF/RecN/SMC N terminal domain

  4. NM_001318734.2 → NP_001305663.1  kinesin light chain 2 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) represents an alternate 5' UTR and encodes the longer protein isoform (1). The same protein is encoded by transcript variants 1, 3, 4, and 5.
    Source sequence(s)
    AL136864, AP001107, BC034373, DA589927
    Consensus CDS
    CCDS8130.1
    UniProtKB/Swiss-Prot
    A8MXL7, B2RDY4, Q9H0B6, Q9H9C8, Q9HA20
    Related
    ENSP00000377631.2, ENST00000394067.7
    Conserved Domains (4) summary
    sd00006
    Location:282 → 310
    TPR; TPR repeat [structural motif]
    pfam13424
    Location:238 → 314
    TPR_12; Tetratricopeptide repeat
    cl19252
    Location:76 → 149
    MreC; rod shape-determining protein MreC
    cl25732
    Location:9 → 139
    SMC_N; RecF/RecN/SMC N terminal domain

  5. NM_022822.3 → NP_073733.1  kinesin light chain 2 isoform 1

    See identical proteins and their annotated locations for NP_073733.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents an alternate 5' UTR and encodes the longer protein isoform (1). The same protein is encoded by transcript variants 1, 3, 4, and 5.
    Source sequence(s)
    AK022907, AL136864, AP001107, BP214296
    Consensus CDS
    CCDS8130.1
    UniProtKB/Swiss-Prot
    A8MXL7, B2RDY4, Q9H0B6, Q9H9C8, Q9HA20
    Related
    ENSP00000314837.5, ENST00000316924.9
    Conserved Domains (4) summary
    sd00006
    Location:282 → 310
    TPR; TPR repeat [structural motif]
    pfam13424
    Location:238 → 314
    TPR_12; Tetratricopeptide repeat
    cl19252
    Location:76 → 149
    MreC; rod shape-determining protein MreC
    cl25732
    Location:9 → 139
    SMC_N; RecF/RecN/SMC N terminal domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    66243938..66267860
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047427414.1 → XP_047283370.1  kinesin light chain 2 isoform X1

    UniProtKB/Swiss-Prot
    A8MXL7, B2RDY4, Q9H0B6, Q9H9C8, Q9HA20

  2. XM_024448657.1 → XP_024304425.1  kinesin light chain 2 isoform X2

    Conserved Domains (4) summary
    sd00006
    Location:282 → 310
    TPR; TPR repeat [structural motif]
    pfam13424
    Location:238 → 314
    TPR_12; Tetratricopeptide repeat
    cl19252
    Location:76 → 149
    MreC; rod shape-determining protein MreC
    cl25732
    Location:9 → 139
    SMC_N; RecF/RecN/SMC N terminal domain

  3. XM_005274184.1 → XP_005274241.1  kinesin light chain 2 isoform X2

    Conserved Domains (4) summary
    sd00006
    Location:282 → 310
    TPR; TPR repeat [structural motif]
    pfam13424
    Location:238 → 314
    TPR_12; Tetratricopeptide repeat
    cl19252
    Location:76 → 149
    MreC; rod shape-determining protein MreC
    cl25732
    Location:9 → 139
    SMC_N; RecF/RecN/SMC N terminal domain

  4. XM_005274183.2 → XP_005274240.1  kinesin light chain 2 isoform X1

    See identical proteins and their annotated locations for XP_005274240.1

    UniProtKB/Swiss-Prot
    A8MXL7, B2RDY4, Q9H0B6, Q9H9C8, Q9HA20
    Conserved Domains (4) summary
    sd00006
    Location:282 → 310
    TPR; TPR repeat [structural motif]
    pfam13424
    Location:238 → 314
    TPR_12; Tetratricopeptide repeat
    cl19252
    Location:76 → 149
    MreC; rod shape-determining protein MreC
    cl25732
    Location:9 → 139
    SMC_N; RecF/RecN/SMC N terminal domain

  5. XM_047427415.1 → XP_047283371.1  kinesin light chain 2 isoform X2

  6. XM_047427416.1 → XP_047283372.1  kinesin light chain 2 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    66250965..66261532
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054369650.1 → XP_054225625.1  kinesin light chain 2 isoform X2

  2. XM_054369649.1 → XP_054225624.1  kinesin light chain 2 isoform X2

  3. XM_054369648.1 → XP_054225623.1  kinesin light chain 2 isoform X1

  4. XM_054369651.1 → XP_054225626.1  kinesin light chain 2 isoform X2

  5. XM_054369652.1 → XP_054225627.1  kinesin light chain 2 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H0B6.1 GenPept UniProtKB/Swiss-Prot:Q9H0B6

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