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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 Innate Immune System and Golgi-to-ER retrograde transport. 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KLC2 Gene

Genomics for KLC2 Gene

Regulatory Elements for KLC2 Gene

Enhancers for KLC2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G065470 2.7 VISTA FANTOM5 Ensembl ENCODE dbSUPER 11.3 -767.2 -767211 40.0 MLX CREB3L1 AGO1 ZFP64 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 LOC105369352 ZFPL1 KAT5 ENSG00000254461 EIF1AD NEAT1 FRMD8 EHBP1L1 POLA2 LOC101927789
GH11G065414 2.2 FANTOM5 Ensembl ENCODE dbSUPER 12.4 -833.1 -833113 18.8 MLX CREB3L1 AGO1 ZFP64 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZFPL1 NEAT1 LOC105369352 KAT5 EIF1AD FRMD8 MUS81 PCNX3 POLA2 ENSG00000255320
GH11G066111 1.7 Ensembl ENCODE dbSUPER 16 -141.1 -141129 10.3 HNRNPUL1 HDGF PKNOX1 FOXA2 CREB3L1 AGO1 WRNIP1 ARID4B SIN3A DMAP1 EIF1AD RBM14 ENSG00000255320 ENSG00000258297 SF3B2 ENSG00000255038 PACS1 LOC105369352 RBM4B KLC2
GH11G067116 1.3 ENCODE dbSUPER 19.5 +862.4 862410 5.7 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF207 SP3 LOC105369352 ENSG00000254461 ENSG00000258297 RBM14 SSH3 KLC2 RBM4B RCE1 B4GAT1 PTPRCAP
GH11G066421 1.2 ENCODE 19.8 +164.6 164633 0.8 MLX CREB3L1 AGO1 ZFP64 DMAP1 SLC30A9 ZNF143 ZNF263 SP3 NFYC RBM4B KLC2 KAT5 ENSG00000254461 EHBP1L1 CLCF1 MUS81 EFEMP2 CTSF SSSCA1-AS1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KLC2 on UCSC Golden Path with GeneCards custom track

Promoters for KLC2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000040942 606 1401 HDGF PKNOX1 FOXA2 AGO1 WRNIP1 ARID4B SIN3A ZNF2 ZNF143 ZNF263

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

Post-translational modifications for KLC2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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.
Family:
  • Belongs to the kinesin light chain family.
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:0003777 microtubule motor activity IEA --
GO:0005515 protein binding IPI 14985359
GO:0019894 kinesin binding ISS --
GO:0045296 cadherin binding IDA 25468996
genes like me logo Genes that share ontologies with KLC2: view
genes like me logo Genes that share phenotypes with KLC2: view

Human Phenotype Ontology for KLC2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KLC2 Gene

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KLC2 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
plasma membrane 2
nucleus 2
extracellular 1

Gene Ontology (GO) - Cellular Components for KLC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0005871 kinesin complex ISS --
GO:0005874 microtubule IEA --
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

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

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for KLC2 Gene



Protein tissue co-expression partners for KLC2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KLC2 Gene:

KLC2

SOURCE GeneReport for Unigene cluster for KLC2 Gene:

Hs.280792

Evidence on tissue expression from TISSUES for KLC2 Gene

  • Liver(4.2)
  • Nervous system(3.7)
genes like me logo Genes that share expression patterns with KLC2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 34 35
  • 99.41 (n)
cow
(Bos Taurus)
Mammalia KLC2 34 35
  • 90.41 (n)
dog
(Canis familiaris)
Mammalia KLC2 34 35
  • 89.07 (n)
mouse
(Mus musculus)
Mammalia Klc2 34 16 35
  • 88.05 (n)
oppossum
(Monodelphis domestica)
Mammalia KLC2 35
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Klc2 34
  • 87.83 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 76 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia KLC2 35
  • 79 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii klc2 34 35
  • 73.61 (n)
zgc55666 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13210 34
fruit fly
(Drosophila melanogaster)
Insecta Klc 35
  • 67 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea klc-2 35
  • 58 (a)
ManyToMany
klc-1 35
  • 41 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 62 (a)
OneToMany
Species where no ortholog for KLC2 was found in the sources mined by GeneCards:
  • 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
rs1000423122 -- 66,267,715(+) CATCC(C/T)GCCTC downstream-variant-500B, upstream-variant-2KB, utr-variant-3-prime
rs1000752780 -- 66,266,578(+) CTTCA(G/T)CCAGC intron-variant, upstream-variant-2KB
rs1000795096 -- 66,266,292(+) TGCCC(C/T)ACTGA intron-variant, upstream-variant-2KB
rs1001143410 -- 66,260,614(+) TTTTT(C/T)TTGAG intron-variant, downstream-variant-500B, upstream-variant-2KB
rs1001205236 -- 66,255,599(+) ACCAG(C/G)TGAAA upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
esv1000442 OTHER inversion 20482838

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

Human Gene Mutation Database (HGMD)
KLC2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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 atrophy, and neuropathy
vaccinia
- elite association - COSMIC cancer census association via MalaCards
Search KLC2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KLC2_HUMAN
  • Spastic paraplegia, optic atrophy, and neuropathy (SPOAN) [MIM:609541]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPOAN is characterized by spastic paraplegia with progressive joint contractures and spine deformities, loss of independent ambulation by age 10 years, sub-normal vision secondary to congenital optic atrophy, and neuropathy. Inheritance is autosomal recessive. {ECO:0000269 PubMed:26385635}. Note=The gene represented in this entry is involved in disease pathogenesis. The disease is caused by a homozygous deletion in the non-coding region of the KLC2 gene. {ECO:0000269 PubMed:26385635}.

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 Genatlas for KLC2 Gene

Publications for KLC2 Gene

  1. Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome. (PMID: 26385635) Melo U.S. … Santos S. (Hum. Mol. Genet. 2015) 3 4 64
  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 22 64
  3. 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 64
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for KLC2 Gene

  • Addgene plasmids for KLC2

Sources for KLC2 Gene

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