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Aliases for KLC2 Gene

Aliases for KLC2 Gene

  • Kinesin Light Chain 2 2 3 5
  • KLC 2 4

External Ids for KLC2 Gene

Previous GeneCards Identifiers for KLC2 Gene

  • GC19U990148
  • GC11P067706
  • GC11P066275
  • GC11P065800
  • GC11P065781
  • GC11P066026
  • GC11P062350

Summaries for KLC2 Gene

Entrez Gene Summary for KLC2 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]

GeneCards Summary for KLC2 Gene

KLC2 (Kinesin Light Chain 2) is a Protein Coding gene. Diseases associated with KLC2 include spastic paraplegia, optic atrophy, and neuropathy and spoan syndrome. Among its related pathways are Platelet activation, signaling and aggregation and Signaling by GPCR. GO annotations related to this gene include microtubule motor activity and kinesin binding. An important paralog of this gene is KLC4.

UniProtKB/Swiss-Prot for KLC2 Gene

  • 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).

Gene Wiki entry for KLC2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KLC2 Gene

Genomics for KLC2 Gene

Regulatory Elements for KLC2 Gene

Promoters for KLC2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KLC2 on UCSC Golden Path with GeneCards custom track

Genomic Location for KLC2 Gene

Chromosome:
11
Start:
66,257,294 bp from pter
End:
66,267,861 bp from pter
Size:
10,568 bases
Orientation:
Plus strand

Genomic View for KLC2 Gene

Genes around KLC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KLC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KLC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KLC2 Gene

Proteins for KLC2 Gene

  • Protein details for KLC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H0B6-KLC2_HUMAN
    Recommended name:
    Kinesin light chain 2
    Protein Accession:
    Q9H0B6
    Secondary Accessions:
    • A8MXL7
    • B2RDY4
    • Q9H9C8
    • Q9HA20

    Protein attributes for KLC2 Gene

    Size:
    622 amino acids
    Molecular mass:
    68935 Da
    Quaternary structure:
    • Oligomeric complex composed of two heavy chains and two light chains.

    Three dimensional structures from OCA and Proteopedia for KLC2 Gene

    Alternative splice isoforms for KLC2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KLC2 Gene

Proteomics data for KLC2 Gene at MOPED

Post-translational modifications for KLC2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for KLC2 Gene

Domains & Families for KLC2 Gene

Gene Families for KLC2 Gene

Suggested Antigen Peptide Sequences for KLC2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H0B6

UniProtKB/Swiss-Prot:

KLC2_HUMAN :
  • Belongs to the kinesin light chain family.
  • Contains 6 TPR repeats.
Family:
  • Belongs to the kinesin light chain family.
Similarity:
  • Contains 6 TPR repeats.
genes like me logo Genes that share domains with KLC2: view

Function for KLC2 Gene

Molecular function for KLC2 Gene

GENATLAS Biochemistry:
kinesin,light chain,beta 2,with homology to purple sea urchin SPKLC,widely expressed
UniProtKB/Swiss-Prot 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).

Gene Ontology (GO) - Molecular Function for KLC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 14985359
genes like me logo Genes that share ontologies with KLC2: view
genes like me logo Genes that share phenotypes with KLC2: view

Animal Models for KLC2 Gene

MGI Knock Outs for KLC2:
  • Klc2 tm1e(EUCOMM)Wtsi

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KLC2 Gene

Localization for KLC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KLC2 Gene

Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KLC2 Gene COMPARTMENTS Subcellular localization image for KLC2 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 2
plasma membrane 2
extracellular 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for KLC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0016020 membrane IDA 19946888
GO:0016938 kinesin I complex NAS 20510358
genes like me logo Genes that share ontologies with KLC2: view

Pathways & Interactions for KLC2 Gene

genes like me logo Genes that share pathways with KLC2: view

Pathways by source for KLC2 Gene

1 KEGG pathway for KLC2 Gene

SIGNOR curated interactions for KLC2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for KLC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007018 microtubule-based movement TAS --
GO:0007596 blood coagulation TAS --
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with KLC2: view

Drugs & Compounds for KLC2 Gene

No Compound Related Data Available

Transcripts for KLC2 Gene

Unigene Clusters for KLC2 Gene

Kinesin light chain 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KLC2 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b · 5c · 5d ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^
SP1:
SP2: - - -
SP3: - - - -
SP4: - - - - - -
SP5: - - - - -
SP6: - -
SP7:
SP8: - - - - - -
SP9: - - - -
SP10: -

ExUns: 16a · 16b ^ 17 ^ 18
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for KLC2 Gene

GeneLoc Exon Structure for
KLC2
ECgene alternative splicing isoforms for
KLC2

Expression for KLC2 Gene

mRNA expression in normal human tissues for KLC2 Gene

Protein differential expression in normal tissues from HIPED for KLC2 Gene

This gene is overexpressed in Adipocyte (23.5) and Fetal Brain (9.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for KLC2 Gene



SOURCE GeneReport for Unigene cluster for KLC2 Gene Hs.280792

genes like me logo Genes that share expression patterns with KLC2: view

Protein tissue co-expression partners for KLC2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for KLC2 Gene

Orthologs for KLC2 Gene

This gene was present in the common ancestor of animals.

Orthologs for KLC2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KLC2 35
  • 99.41 (n)
  • 99.68 (a)
KLC2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KLC2 36
  • 94 (a)
OneToOne
KLC2 35
  • 90.41 (n)
  • 94.21 (a)
dog
(Canis familiaris)
Mammalia KLC2 35
  • 89.07 (n)
  • 95.34 (a)
KLC2 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Klc2 16
Klc2 35
  • 88.05 (n)
  • 95.96 (a)
Klc2 36
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KLC2 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 76 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Klc2 35
  • 87.83 (n)
  • 96.3 (a)
lizard
(Anolis carolinensis)
Reptilia KLC2 36
  • 79 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13210 35
zebrafish
(Danio rerio)
Actinopterygii klc2 36
  • 80 (a)
OneToOne
klc2 35
  • 73.61 (n)
  • 81.31 (a)
zgc55666 35
fruit fly
(Drosophila melanogaster)
Insecta Klc 36
  • 67 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea klc-1 36
  • 41 (a)
ManyToMany
klc-2 36
  • 58 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 62 (a)
OneToMany
Species with no ortholog for KLC2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for KLC2 Gene

ENSEMBL:
Gene Tree for KLC2 (if available)
TreeFam:
Gene Tree for KLC2 (if available)

Paralogs for KLC2 Gene

Paralogs for KLC2 Gene

genes like me logo Genes that share paralogs with KLC2: view

Variants for KLC2 Gene

Sequence variations from dbSNP and Humsavar for KLC2 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
VAR_020379 -
rs548053 -- 66,256,310(+) gggaa(A/G)atttt upstream-variant-2KB
rs692741 -- 66,258,551(+) GGCCC(A/G)GCGCC intron-variant, utr-variant-5-prime
rs35338010 -- 66,256,114(+) TCCGG(-/A)AAAAA upstream-variant-2KB
rs61890332 -- 66,256,884(+) CACCA(C/G)CTTCT upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for KLC2 Gene

Variant ID Type Subtype PubMed ID
esv1000442 OTHER Inversion 20482838
dgv1187n71 CNV Loss 21882294
nsv897772 CNV Loss 21882294

Variation tolerance for KLC2 Gene

Residual Variation Intolerance Score: 11% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.00; 80.03% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KLC2 Gene

HapMap Linkage Disequilibrium report
KLC2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KLC2 Gene

Disorders for KLC2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for KLC2 Gene - From: ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spastic paraplegia, optic atrophy, and neuropathy
  • spastic paraplegia-optic atrophy-neuropathy syndrome
spoan syndrome
  • spastic paraplegia, optic atropy, and neuropathy
vaccinia
- elite association - COSMIC cancer census association via MalaCards
Search KLC2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for KLC2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KLC2
genes like me logo Genes that share disorders with KLC2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KLC2 Gene

Publications for KLC2 Gene

  1. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil S.A. … Gygi S.P. (Nat. Biotechnol. 2006) 3 4 67
  2. Role of kinesin light chain-2 of kinesin-1 in the traffic of Na,K-ATPase-containing vesicles in alveolar epithelial cells. (PMID: 19773350) Trejo H.E. … Sznajder J.I. (FASEB J. 2010) 3 23
  3. Two kinesin light chain genes in mice. Identification and characterization of the encoded proteins. (PMID: 9624122) Rahman A. … Goldstein L.S. (J. Biol. Chem. 1998) 2 3
  4. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for KLC2 Gene

Sources for KLC2 Gene

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