Human Gene KLC2 (uc001ohb.2) Description and Page Index
  Description: Homo sapiens kinesin light chain 2 (KLC2), transcript variant 1, mRNA.
RefSeq Summary (NM_022822): 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].
Transcript (Including UTRs)
   Position: hg19 chr11:66,025,174-66,035,332 Size: 10,159 Total Exon Count: 16 Strand: +
Coding Region
   Position: hg19 chr11:66,026,066-66,034,427 Size: 8,362 Coding Exon Count: 15 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:66,025,174-66,035,332)mRNA (may differ from genome)Protein (622 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedReactomeStanford SOURCETreefam
UniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: KLC2_HUMAN
DESCRIPTION: RecName: Full=Kinesin light chain 2; Short=KLC 2;
FUNCTION: Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport. The light chain may function in coupling of cargo to the heavy chain or in the modulation of its ATPase activity (By similarity).
SUBUNIT: Oligomeric complex composed of two heavy chains and two light chains (By similarity).
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton (Probable).
SIMILARITY: Belongs to the kinesin light chain family.
SIMILARITY: Contains 6 TPR repeats.

-  MalaCards Disease Associations
  MalaCards Gene Search: KLC2
Diseases sorted by gene-association score: spastic paraplegia, optic atrophy, and neuropathy* (1280), spoan syndrome* (437), vaccinia (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D000082 Acetaminophen
  • C016403 2,4-dinitrotoluene
  • C023514 2,6-dinitrotoluene
  • C532162 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine
  • D001564 Benzo(a)pyrene
  • D004041 Dietary Fats
  • D004958 Estradiol
  • D005411 Flame Retardants
  • D018350 alpha-Amino-3-hydroxy-5-methyl-4-isoxazolepropionic Acid
  • C028007 nickel monoxide
          more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 74.81 RPKM in Brain - Cerebellum
Total median expression: 774.62 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -116.50217-0.537 Picture PostScript Text
3' UTR -350.83905-0.388 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002151 - Kinesin_light
IPR015792 - Kinesin_light_repeat
IPR015390 - Rabaptin_Rab5-bd_dom
IPR013026 - TPR-contain_dom
IPR011990 - TPR-like_helical
IPR013105 - TPR_2
IPR019734 - TPR_repeat

Pfam Domains:
PF00515 - Tetratricopeptide repeat
PF01535 - PPR repeat
PF13176 - Tetratricopeptide repeat
PF13181 - Tetratricopeptide repeat
PF13374 - Tetratricopeptide repeat
PF13424 - Tetratricopeptide repeat
PF13432 - Tetratricopeptide repeat
PF14938 - Soluble NSF attachment protein, SNAP

SCOP Domains:
81901 - HCP-like
48439 - Protein prenylyltransferase
48452 - TPR-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help

3CEQ
- X-ray MuPIT

3EDT
- X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9H0B6
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003777 microtubule motor activity
GO:0005515 protein binding
GO:0019894 kinesin binding
GO:0045296 cadherin binding

Biological Process:
GO:0006890 retrograde vesicle-mediated transport, Golgi to ER
GO:0007018 microtubule-based movement
GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II

Cellular Component:
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005871 kinesin complex
GO:0005874 microtubule
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016938 kinesin I complex
GO:0032991 macromolecular complex


-  Descriptions from all associated GenBank mRNAs
  LF211160 - JP 2014500723-A/18663: Polycomb-Associated Non-Coding RNAs.
AK022907 - Homo sapiens cDNA FLJ12845 fis, clone NT2RP2003307, moderately similar to KINESIN LIGHT CHAIN.
AK315725 - Homo sapiens cDNA, FLJ96829, Homo sapiens likely ortholog of kinesin light chain 2 (KLC2), mRNA.
AL136864 - Homo sapiens mRNA; cDNA DKFZp434H064 (from clone DKFZp434H064).
BC034373 - Homo sapiens kinesin light chain 2, mRNA (cDNA clone MGC:16866 IMAGE:4342879), complete cds.
AK022449 - Homo sapiens cDNA FLJ12387 fis, clone MAMMA1002637, moderately similar to KINESIN LIGHT CHAIN.
JD409153 - Sequence 390177 from Patent EP1572962.
JD481144 - Sequence 462168 from Patent EP1572962.
AK094593 - Homo sapiens cDNA FLJ37274 fis, clone BRAMY2012162, highly similar to Kinesin light chain 2.
AB463091 - Synthetic construct DNA, clone: pF1KB8675, Homo sapiens KLC2 gene for kinesin light chain 2, without stop codon, in Flexi system.
AM393591 - Synthetic construct Homo sapiens clone IMAGE:100001891 for hypothetical protein (KLC2 gene).
DQ894317 - Synthetic construct Homo sapiens clone IMAGE:100008777; FLH169652.01L; RZPDo839E0995D kinesin light chain 2 (KLC2) gene, encodes complete protein.
DQ891138 - Synthetic construct clone IMAGE:100003768; FLH169656.01X; RZPDo839E0996D kinesin light chain 2 (KLC2) gene, encodes complete protein.
KJ894580 - Synthetic construct Homo sapiens clone ccsbBroadEn_03974 KLC2 gene, encodes complete protein.
AK126489 - Homo sapiens cDNA FLJ44525 fis, clone UTERU3003178, highly similar to Kinesin light chain 2.
BC128203 - Homo sapiens cDNA clone IMAGE:40114028, with apparent retained intron.
JD199013 - Sequence 180037 from Patent EP1572962.
JD054426 - Sequence 35450 from Patent EP1572962.
JD123680 - Sequence 104704 from Patent EP1572962.
JD515436 - Sequence 496460 from Patent EP1572962.
JD503748 - Sequence 484772 from Patent EP1572962.
JD249249 - Sequence 230273 from Patent EP1572962.
JD134150 - Sequence 115174 from Patent EP1572962.
JD472689 - Sequence 453713 from Patent EP1572962.
JD429835 - Sequence 410859 from Patent EP1572962.
JD107354 - Sequence 88378 from Patent EP1572962.
JD215216 - Sequence 196240 from Patent EP1572962.
JD334967 - Sequence 315991 from Patent EP1572962.
MA446737 - JP 2018138019-A/18663: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9H0B6 (Reactome details) participates in the following event(s):

R-HSA-983194 Kinesin-1 is a heterotetramer
R-HSA-5672083 KTN1 binds Kinesin-1
R-HSA-983266 Kinesins bind microtubules
R-HSA-6811426 Retrograde COPI vesicles bind kinesin and microtubules
R-HSA-6811423 Retrograde vesicle is tethered at the ER by the NRZ complex and t-SNAREs
R-HSA-983189 Kinesins
R-HSA-5625970 RHO GTPases activate KTN1
R-HSA-983231 Factors involved in megakaryocyte development and platelet production
R-HSA-195258 RHO GTPase Effectors
R-HSA-109582 Hemostasis
R-HSA-2132295 MHC class II antigen presentation
R-HSA-6811434 COPI-dependent Golgi-to-ER retrograde traffic
R-HSA-194315 Signaling by Rho GTPases
R-HSA-1280218 Adaptive Immune System
R-HSA-8856688 Golgi-to-ER retrograde transport
R-HSA-162582 Signal Transduction
R-HSA-168256 Immune System
R-HSA-6811442 Intra-Golgi and retrograde Golgi-to-ER traffic
R-HSA-199991 Membrane Trafficking
R-HSA-5653656 Vesicle-mediated transport

-  Other Names for This Gene
  Alternate Gene Symbols: A8MXL7, B2RDY4, KLC2_HUMAN, NM_022822, NP_073733, Q9H0B6, Q9H9C8, Q9HA20
UCSC ID: uc001ohb.2
RefSeq Accession: NM_022822
Protein: Q9H0B6 (aka KLC2_HUMAN)
CCDS: CCDS8130.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene KLC2:
hsp (Hereditary Spastic Paraplegia Overview)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_022822.2
exon count: 16CDS single in 3' UTR: no RNA size: 3067
ORF size: 1869CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3896.00frame shift in genome: no % Coverage: 97.49
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.