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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
    mouse all
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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
    		Compare labs

    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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