ENSG00000174996


Homo sapiens

Features
Gene ID: ENSG00000174996
  
Biological name :KLC2
  
Synonyms : kinesin light chain 2 / KLC2 / Q9H0B6
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: 1
Band: q13.2
Gene start: 66257294
Gene end: 66267860
  
Corresponding Affymetrix probe sets: 218906_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000377631
Ensembl peptide - ENSP00000377641
Ensembl peptide - ENSP00000437026
Ensembl peptide - ENSP00000436577
Ensembl peptide - ENSP00000434538
Ensembl peptide - ENSP00000431253
Ensembl peptide - ENSP00000408484
Ensembl peptide - ENSP00000399403
Ensembl peptide - ENSP00000396952
Ensembl peptide - ENSP00000314837
Ensembl peptide - ENSP00000377629
Ensembl peptide - ENSP00000377630
NCBI entrez gene - 64837     See in Manteia.
OMIM - 611729
RefSeq - XM_017018133
RefSeq - NM_001134774
RefSeq - NM_001134775
RefSeq - NM_001134776
RefSeq - NM_001318734
RefSeq - NM_022822
RefSeq - XM_005274183
RefSeq - XM_005274184
RefSeq Peptide - NP_001305663
RefSeq Peptide - NP_073733
RefSeq Peptide - NP_001128246
RefSeq Peptide - NP_001128247
RefSeq Peptide - NP_001128248
swissprot - A8MX29
swissprot - E9PP09
swissprot - E9PM83
swissprot - E9PI24
swissprot - C9JHT2
swissprot - Q9H0B6
swissprot - E9PQ02
swissprot - A8MZ87
Ensembl - ENSG00000174996
  
Related genetic diseases (OMIM): 609541 - Spastic paraplegia, optic atrophy, and neuropathy, 609541
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 Klc2ENSMUSG00000024862Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
KLC4 / Q9NSK0 / kinesin light chain 4ENSG0000013717170
KLC1 / Q07866 / kinesin light chain 1ENSG0000012621467
AL139300.1ENSG0000025650062
KLC3 / Q6P597 / kinesin light chain 3ENSG0000010489248
NPHP3 / Q7Z494 / nephrocystin 3ENSG0000011397125
NPHP3-ACAD11 / NPHP3-ACAD11 readthrough (NMD candidate)ENSG0000027481011


Protein motifs (from Interpro)
Interpro ID Name
 IPR002151  Kinesin light chain
 IPR011990  Tetratricopeptide-like helical domain superfamily
 IPR013026  Tetratricopeptide repeat-containing domain
 IPR015792  Kinesin light chain repeat
 IPR019734  Tetratricopeptide repeat
 IPR036388  Winged helix-like DNA-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006890 retrograde vesicle-mediated transport, Golgi to ER TAS
 biological_processGO:0007018 microtubule-based movement TAS
 biological_processGO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II TAS
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion IDA
 cellular_componentGO:0005829 cytosol ISS
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005871 kinesin complex ISS
 cellular_componentGO:0005874 microtubule IEA
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0016020 membrane HDA
 cellular_componentGO:0016938 kinesin I complex NAS
 cellular_componentGO:0032991 protein-containing complex IDA
 molecular_functionGO:0003777 microtubule motor activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0019894 kinesin binding ISS
 molecular_functionGO:0045296 cadherin binding IDA


Pathways (from Reactome)
Pathway description
MHC class II antigen presentation
RHO GTPases activate KTN1
COPI-dependent Golgi-to-ER retrograde traffic
Kinesins


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000543 Pale optic disks 
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 HP:0000648 Optic atrophy 
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 HP:0000975 Hyperhidrosis "An abnormally increased perspiration." [HPO:probinson]
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 HP:0001258 Spastic paraplegia 
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 HP:0001260 Dysarthria "Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed." [HPO:curators]
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 HP:0001265 Hyporeflexia 
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 HP:0001270 Motor retardation 
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 HP:0001371 Contractures 
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 HP:0001761 Pes cavus 
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 HP:0002267 Exaggerated startle response "An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face." [HPO:curators]
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 HP:0002650 Scoliosis "The presence of an abnormal lateral curvature of the spine." [HPO:curators]
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 HP:0002808 Kyphosis 
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 HP:0003390 Sensory axonal neuropathy "An axonal neuropathy of peripheral sensory nerves." [HPO:curators]
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 HP:0003676 Progressive disorder 
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 HP:0003693 Distal amyotrophy "Muscular atrophy affecting muscles in the distal portions of the extremities." [HPO:curators]
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 HP:0007002 Sensory and motor axonal neuropathy 
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 HP:0007054 Hyperreflexia proximally 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000067560 RHOA / P61586 / ras homolog family member A  / reaction / complex
 ENSG00000126777 KTN1 / Q86UP2 / kinectin 1  / complex / reaction
 ENSG00000070831 CDC42 / P60953 / cell division cycle 42  / reaction / complex
 ENSG00000155980 KIF5A / Q12840 / kinesin family member 5A  / reaction / complex
 ENSG00000126214 KLC1 / Q07866 / kinesin light chain 1  / reaction / complex
 ENSG00000174996 KLC2 / Q9H0B6 / kinesin light chain 2  / reaction / complex
 ENSG00000136238 RAC1 / P63000 / Rac family small GTPase 1  / reaction / complex
 ENSG00000177105 RHOG / P84095 / ras homolog family member G  / complex / reaction






 

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