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

Gene ID: 64837, updated on 4-Nov-2018

Summary

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; Vega:OTTHUMG00000133757
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

Genomic context

See KLC2 in Genome Data Viewer
Location:
11q13.2
Exon count:
17
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (66257294..66267861)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (66024765..66035332)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA, C/D box 13F Neighboring gene splicing factor 3b subunit 2 Neighboring gene phosphofurin acidic cluster sorting protein 1 Neighboring gene uncharacterized LOC105369354 Neighboring gene uncharacterized LOC105369352 Neighboring gene uncharacterized LOC105369351 Neighboring gene uncharacterized LOC107984340 Neighboring gene RAB1B, member RAS oncogene family Neighboring gene cornichon family AMPA receptor auxiliary protein 2

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Spastic paraplegia, optic atrophy, and neuropathy
MedGen: C1836010 OMIM: 609541 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Adaptive Immune System, organism-specific biosystem (from REACTOME)
    Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
  • COPI-dependent Golgi-to-ER retrograde traffic, organism-specific biosystem (from REACTOME)
    COPI-dependent Golgi-to-ER retrograde traffic, organism-specific biosystemRetrograde traffic from the cis-Golgi to the ERGIC or the ER is mediated in part by microtubule-directed COPI-coated vesicles (Letourneur et al, 1994; Shima et al, 1999; Spang et al, 1998; reviewed i...
  • Factors involved in megakaryocyte development and platelet production, organism-specific biosystem (from REACTOME)
    Factors involved in megakaryocyte development and platelet production, organism-specific biosystemMegakaryocytes (MKs) give rise to circulating platelets (thrombocytes) through terminal differentiation of MKs which release cytoplasmic fragments as circulating platelets. As MKs mature they underg...
  • Golgi-to-ER retrograde transport, organism-specific biosystem (from REACTOME)
    Golgi-to-ER retrograde transport, organism-specific biosystemRetrograde traffic from the cis-Golgi to the ERGIC or the ER occurs through either COPI-coated vesicles or through a less well characterized RAB6-dependent route that makes use of tubular carriers (r...
  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Intra-Golgi and retrograde Golgi-to-ER traffic, organism-specific biosystem (from REACTOME)
    Intra-Golgi and retrograde Golgi-to-ER traffic, organism-specific biosystemThe mammalian Golgi complex, a central hub of both anterograde and retrograde trafficking, is a ribbon of stacked cisterna with biochemically distinct compartments (reviewed in Glick and Nakano, 2009...
  • Kinesins, organism-specific biosystem (from REACTOME)
    Kinesins, organism-specific biosystemKinesins are a superfamily of microtubule-based motor proteins that have diverse functions in transport of vesicles, organelles and chromosomes, and regulate microtubule dynamics. There are 14 famil...
  • MHC class II antigen presentation, organism-specific biosystem (from REACTOME)
    MHC class II antigen presentation, organism-specific biosystemAntigen presenting cells (APCs) such as B cells, dendritic cells (DCs) and monocytes/macrophages express major histocompatibility complex class II molecules (MHC II) at their surface and present exog...
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • RHO GTPase Effectors, organism-specific biosystem (from REACTOME)
    RHO GTPase Effectors, organism-specific biosystemRHO GTPases regulate cell behaviour by activating a number of downstream effectors that regulate cytoskeletal organization, intracellular trafficking and transcription (reviewed by Sahai and Marshall...
  • RHO GTPases activate KTN1, organism-specific biosystem (from REACTOME)
    RHO GTPases activate KTN1, organism-specific biosystemGTP-bound active forms of RHO GTPases RHOA, RHOG, RAC1 and CDC42 bind kinectin (KTN1), a protein inserted in endoplasmic reticulum membranes that interacts with the cargo-binding site of kinesin and ...
  • Salmonella infection, organism-specific biosystem (from KEGG)
    Salmonella infection, organism-specific biosystemSalmonella infection usually presents as a self-limiting gastroenteritis or the more severe typhoid fever and bacteremia. The common disease-causing Salmonella species in human is a single species, S...
  • Salmonella infection, conserved biosystem (from KEGG)
    Salmonella infection, conserved biosystemSalmonella infection usually presents as a self-limiting gastroenteritis or the more severe typhoid fever and bacteremia. The common disease-causing Salmonella species in human is a single species, S...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
    Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ12387

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cadherin binding HDA PubMed 
kinesin binding ISS
Inferred from Sequence or Structural Similarity
more info
 
microtubule motor activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol ISS
Inferred from Sequence or Structural Similarity
more info
 
cytosol TAS
Traceable Author Statement
more info
 
kinesin I complex NAS
Non-traceable Author Statement
more info
PubMed 
kinesin complex ISS
Inferred from Sequence or Structural Similarity
more info
 
membrane HDA PubMed 
microtubule IEA
Inferred from Electronic Annotation
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 
protein-containing complex IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
kinesin light chain 2
Names
KLC 2

NCBI Reference Sequences (RefSeq)

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_046774.1 RefSeqGene

    Range
    5001..15567
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001134774.1NP_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, CN310361
    Consensus CDS
    CCDS44653.1
    UniProtKB/Swiss-Prot
    Q9H0B6
    Related
    ENSP00000408484.1, ENST00000421552.5
    Conserved Domains (3) summary
    sd00006
    Location:205233
    TPR; TPR repeat [structural motif]
    pfam13374
    Location:204245
    TPR_10; Tetratricopeptide repeat
    pfam13424
    Location:159237
    TPR_12; Tetratricopeptide repeat
  2. NM_001134775.1NP_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, AP001107, DA291004, DA773222
    Consensus CDS
    CCDS8130.1
    UniProtKB/Swiss-Prot
    Q9H0B6
    Related
    ENSP00000399403.1, ENST00000417856.5
    Conserved Domains (4) summary
    sd00006
    Location:282310
    TPR; TPR repeat [structural motif]
    pfam13424
    Location:238314
    TPR_12; Tetratricopeptide repeat
    cl19252
    Location:76149
    MreC; rod shape-determining protein MreC
    cl25732
    Location:9139
    SMC_N; RecF/RecN/SMC N terminal domain
  3. NM_001134776.1NP_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
    Q9H0B6
    Conserved Domains (4) summary
    sd00006
    Location:282310
    TPR; TPR repeat [structural motif]
    pfam13424
    Location:238314
    TPR_12; Tetratricopeptide repeat
    cl19252
    Location:76149
    MreC; rod shape-determining protein MreC
    cl25732
    Location:9139
    SMC_N; RecF/RecN/SMC N terminal domain
  4. NM_001318734.1NP_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
    Q9H0B6
    Related
    ENSP00000377631.2, OTTHUMP00000165218, ENST00000394067.6, OTTHUMT00000258202
    Conserved Domains (4) summary
    sd00006
    Location:282310
    TPR; TPR repeat [structural motif]
    pfam13424
    Location:238314
    TPR_12; Tetratricopeptide repeat
    cl19252
    Location:76149
    MreC; rod shape-determining protein MreC
    cl25732
    Location:9139
    SMC_N; RecF/RecN/SMC N terminal domain
  5. NM_022822.2NP_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
    Q9H0B6
    Related
    ENSP00000314837.5, OTTHUMP00000165216, ENST00000316924.9, OTTHUMT00000258200
    Conserved Domains (4) summary
    sd00006
    Location:282310
    TPR; TPR repeat [structural motif]
    pfam13424
    Location:238314
    TPR_12; Tetratricopeptide repeat
    cl19252
    Location:76149
    MreC; rod shape-determining protein MreC
    cl25732
    Location:9139
    SMC_N; RecF/RecN/SMC N terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    66257294..66267861
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for XP_005274240.1

    UniProtKB/Swiss-Prot
    Q9H0B6
    Conserved Domains (4) summary
    sd00006
    Location:282310
    TPR; TPR repeat [structural motif]
    pfam13424
    Location:238314
    TPR_12; Tetratricopeptide repeat
    cl19252
    Location:76149
    MreC; rod shape-determining protein MreC
    cl25732
    Location:9139
    SMC_N; RecF/RecN/SMC N terminal domain
  2. XM_024448657.1XP_024304425.1  kinesin light chain 2 isoform X2

    Conserved Domains (4) summary
    sd00006
    Location:282310
    TPR; TPR repeat [structural motif]
    pfam13424
    Location:238314
    TPR_12; Tetratricopeptide repeat
    cl19252
    Location:76149
    MreC; rod shape-determining protein MreC
    cl25732
    Location:9139
    SMC_N; RecF/RecN/SMC N terminal domain
  3. XM_005274184.1XP_005274241.1  kinesin light chain 2 isoform X2

    Conserved Domains (4) summary
    sd00006
    Location:282310
    TPR; TPR repeat [structural motif]
    pfam13424
    Location:238314
    TPR_12; Tetratricopeptide repeat
    cl19252
    Location:76149
    MreC; rod shape-determining protein MreC
    cl25732
    Location:9139
    SMC_N; RecF/RecN/SMC N terminal domain
  4. XM_017018133.1XP_016873622.1  kinesin light chain 2 isoform X3

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