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KIF5C Gene

protein-coding   GIFtS: 61
GCID: GC02P149632

Kinesin Family Member 5C

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Kinesin Family Member 5C1 2     NKHC2
NKHC22 3 5     NKHC-22
Kinesin Heavy Chain Neuron-Specific 22 3     Kinesin Heavy Chain Isoform 5C2
CDCBM22 5     Kinesin, Heavy Chain, Neuron-Specific2
KINN2     KIAA05313

External Ids:    HGNC: 63251   Entrez Gene: 38002   Ensembl: ENSG000001682807   OMIM: 6045935   UniProtKB: O602823   

Export aliases for KIF5C gene to outside databases

Previous GC identifers: GC02M148723 GC02M149409 GC02P149805 GC02P149996 GC02P149466 GC02P149349 GC02P141630


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for KIF5C Gene:
KIF5C (kinesin family member 5C) is a protein-coding gene. Diseases associated with KIF5C include cortical dysplasia, complex, with other brain malformations 2, and neuronitis. GO annotations related to this gene include microtubule binding and microtubule motor activity. An important paralog of this gene is KIF4A.

UniProtKB/Swiss-Prot: KIF5C_HUMAN, O60282
Function: Mediates dendritic trafficking of mRNAs (By similarity). Kinesin is a microtubule-associated
force-producing protein that may play a role in organelle transport

Gene Wiki entry for KIF5C Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000002.12  NC_018913.2  NT_005403.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the KIF5C gene promoter:
         NF-1   FOXF2   GR-beta   CUTL1   YY1   GATA-1   Gfi-1   AREB6   GR-alpha   NF-kappaB1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for KIF5C

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KIF5C


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q23.1   Ensembl cytogenetic band:  2q23.1   HGNC cytogenetic band: 2q23

KIF5C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIF5C gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P149632:  view genomic region     (about GC identifiers)

Start:
149,632,819 bp from pter      End:
149,883,273 bp from pter
Size:
250,455 bases      Orientation:
plus strand

1 alternative location:
Chr2+,NW_003571033 3,214-96,132     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: KIF5C_HUMAN, O60282 (See protein sequence)
Recommended Name: Kinesin heavy chain isoform 5C  
Size: 957 amino acids; 109495 Da
Subunit: Oligomer composed of two heavy chains and two light chains. Interacts with GRIP1 and KLC3 (By
similarity). Interacts with TRAK1
Sequence caution: Sequence=BAA25457.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: O95079 Q2YDC5
Alternative splicing: 2 isoforms:  O60282-1   O60282-2   

Explore the universe of human proteins at neXtProt for KIF5C: NX_O60282

Explore proteomics data for KIF5C at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See KIF5C Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004513.1  
    ENSEMBL proteins: 
     ENSP00000393379   ENSP00000393270   ENSP00000410115   ENSP00000380560  
    Reactome Protein details: O60282

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    KIF: Kinesins

    4 InterPro protein domains:
     IPR027417 P-loop_NTPase
     IPR001752 Kinesin_motor_dom
     IPR019821 Kinesin_motor_CS
     IPR027640 Kinesin-like_fam

    Graphical View of Domain Structure for InterPro Entry O60282

    ProtoNet protein and cluster: O60282

    1 Blocks protein domain: IPB001752 Kinesin

    UniProtKB/Swiss-Prot: KIF5C_HUMAN, O60282
    Domain: Composed of three structural domains: a large globular N-terminal domain which is responsible for the
    motor activity of kinesin (it hydrolyzes ATP and binds microtubule), a central alpha-helical coiled coil domain
    that mediates the heavy chain dimerization; and a small globular C-terminal domain which interacts with other
    proteins (such as the kinesin light chains), vesicles and membranous organelles
    Similarity: Belongs to the kinesin-like protein family. Kinesin subfamily
    Similarity: Contains 1 kinesin-motor domain


    KIF5C for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KIF5C_HUMAN, O60282
    Function: Mediates dendritic trafficking of mRNAs (By similarity). Kinesin is a microtubule-associated
    force-producing protein that may play a role in organelle transport

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003777microtubule motor activity IEA--
    GO:0005515protein binding IPI15644324
    GO:0005524ATP binding IEA--
    GO:0008017microtubule binding IEA--
         
    KIF5C for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for KIF5C:
     Decreased viability with pacli  Synthetic lethal with Ras 

         3 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Kif5c):
     cellular  nervous system  normal 

    KIF5C for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for KIF5C: Kif5ctm1Gsn Kif5ctm1Noh Kif5ctm2Gsn

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KIF5C
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    Block miRNA regulation of human, mouse, rat KIF5C using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate KIF5C (see all 54):
    hsa-miR-124* hsa-miR-607 hsa-miR-300 hsa-miR-15a hsa-miR-139-5p hsa-miR-4305 hsa-miR-503 hsa-let-7a-2*
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    KIF5C_HUMAN, O60282: Cytoplasm, cytoskeleton (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton4
    cytosol3
    nucleus2
    peroxisome2
    mitochondrion1
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005871kinesin complex IEA--
    GO:0005874microtubule IEA--

    KIF5C for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for KIF5C About    
    See pathways by source

    SuperPathContained pathways About
    1Cytoplasmic microtubules
    Cytoplasmic microtubules0.32
    Cytoskeleton remodeling Neurofilaments0.32
    2Peptide hormone metabolism
    Peptide hormone metabolism0.30
    Insulin Processing0.30
    3Circadian entrainment
    Dopaminergic synapse0.37
    4Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Metabolism of proteins0.30

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for KIF5C
        Cytoskeleton remodeling Neurofilaments

    1 Reactome Pathway for KIF5C
        Insulin processing


    1 Kegg Pathway  (Kegg details for KIF5C):
        Dopaminergic synapse


    KIF5C for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KIF5C
    Interactions:

        GeneGlobe Interaction Network for KIF5C

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for KIF5C (O602821, 3 ENSP000003933794) via UniProtKB, MINT, STRING, and/or I2D (see all 150)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CSNK2A2P197841, 3, ENSP000002625064EBI-717170,EBI-347451 I2D: score=1 STRING: ENSP00000262506
    ENSG00000232960P678703, ENSP000003955464I2D: score=1 STRING: ENSP00000395546
    CSNK2BP678703I2D: score=1 
    ENSG00000206406P678703I2D: score=1 
    ENSG00000224398P678703I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006996organelle organization TAS9782088
    GO:0007018microtubule-based movement IEA--
    GO:0008152metabolic process TAS9782088
    GO:0051028mRNA transport ISS--

    KIF5C for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for KIF5C



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for KIF5C gene: 
    NM_004522.2  

    Unigene Clusters for KIF5C:

    Kinesin family member 5C
    Hs.435557  [show with all ESTs], Hs.660699  [show with all ESTs]
    Unigene Representative Sequences: AK126689, NM_004522
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000435030(uc010zbu.2) ENST00000450621 ENST00000464066 ENST00000460377(uc002twt.3)
    ENST00000482151(uc002twu.1) ENST00000414838 ENST00000397413(uc002tws.1)

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    Selected qRT-PCR Assays for microRNAs that regulate KIF5C (see all 54):
    hsa-miR-124* hsa-miR-607 hsa-miR-300 hsa-miR-15a hsa-miR-139-5p hsa-miR-4305 hsa-miR-503 hsa-let-7a-2*
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    Additional mRNA sequence: 

    AB011103.1 BC002721.2 BC017298.2 BC025961.1 

    14 DOTS entries:

    DT.316169  DT.100688226  DT.101981279  DT.100778569  DT.97774303  DT.100778568  DT.428417  DT.91969966 
    DT.97803807  DT.99998683  DT.100778567  DT.305433  DT.92431907  DT.97762199 

    Selected AceView cDNA sequences (see all 164):

    BE326393 BG501424 F11613 AW161605 BP361727 BP349439 CR612604 AI214776 
    F09268 BG180228 BQ187438 AA226736 CK818881 BM126859 AI418719 AW089620 
    AA319264 AW274812 T16606 AA325221 AI216528 AA878238 CD557352 BF432357 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for KIF5C (see all 7)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b
    SP1:                                                                                                  -     -                                                   
    SP2:                                                                                                  -     -                                                   
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            


    ECgene alternative splicing isoforms for KIF5C

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    KIF5C expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGTATAATT
    KIF5C Expression
    About this image


    KIF5C expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Endothelial Cells Blood Brain Barrier
             Cerebral Cortex
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 3 entries
             Human embryonic stem cells (family)
     
     Bone (Muscoskeletal System)
             HyStem+TGFbeta3+GDF5-induced 7SMOO32 cells
     
     Kidney (Urinary System)
             Metanephros
     
     Cartilage (Muscoskeletal System)
             HyStem+TGFbeta3+GDF5-induced 7SMOO32 cells
    KIF5C Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KIF5C Protein Expression

    SOURCE GeneReport for Unigene clusters: Hs.435557 Hs.660699

    UniProtKB/Swiss-Prot: KIF5C_HUMAN, O60282
    Tissue specificity: Highest expression in brain, prostate and testis, and moderate expression in kidney, small
    intestine and ovary

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIF5C

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for KIF5C gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kif5c1 , 5 kinesin family member 5C1, 5 89.75(n)1
    98.33(a)1
      2 (28.68 cM)5
    165741  NM_008449.21  NP_032475.21 
     496192985 
    chicken
    (Gallus gallus)
    Aves KIF5C1 kinesin family member 5C 84.41(n)
    97.14(a)
      408046  XM_422155.4  XP_422155.2 
    lizard
    (Anolis carolinensis)
    Reptilia KIF5C6
    kinesin family member 5C
    95(a)
    1 ↔ 1
    GL343278.1(8533-113468)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.129752 Transcribed sequence with moderate similarity to protein spO60282 (H.sapiens) KF5C_HUMAN Kinesin heavy chain isoform 5C (Kinesin heavy chain neuron-specific 2) less 82.03(n)    BX722844.1 
    zebrafish
    (Danio rerio)
    Actinopterygii kif5c1 kinesin family member 5C 73.99(n)
    80.17(a)
      565563  NM_001123275.1  NP_001116747.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Khc6
    Kinesin heavy chain
    61(a)
    1 → many
    2R(12154465-12159483)
    worm
    (Caenorhabditis elegans)
    Secernentea unc-1166
    Protein UNC-116 (unc-116) mRNA, complete cds
    54(a)
    1 → many
    III(8351249-8355174) WBGene00006840
    rice
    (Oryza sativa)
    Liliopsida AK064200.12   -- 76.56(n)    AK064200.1 


    ENSEMBL Gene Tree for KIF5C (if available)
    TreeFam Gene Tree for KIF5C (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KIF5C gene
    KIF4A2  KIF3A2  KIF5B2  KIF21A2  KIF112  KIF3B2  KIF21B2  KIF172  
    CENPE2  KIF152  KIF5A2  KIF72  KIF4B2  KIF272  KIF3C2  
    Selected SIMAP similar genes for KIF5C using alignment to 10 protein entries:     KIF5C_HUMAN (see all proteins) (see all similar genes):
    DKFZp566O183    Nbla04137    KIF5B    R11    KIF5B-ALK    KIF5A
    R12    A20    KIFC3    KIF1Bbeta    KIF1A    KIF3A
    KIF18B    KIF9    KIF15    KIF27    KIF13B    KIF13A

    KIF5C for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for KIF5C (see all 2618)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0705744
    Cortical dysplasia, complex, with other brain malformations 2 (CDCBM2)4--see VAR_0705742 E V mis40--------
    rs1458243241,2
    --149130798(+) GAGGCA/GCAATC 1 -- us2k10--------
    rs1489880881,2
    --149131204(+) AATGAA/GAGGCC 1 -- us2k10--------
    rs1915646661,2
    --149131280(+) CATTTG/TCTCAG 1 -- us2k10--------
    rs1437538991,2
    --149131364(+) CCACTG/TGAGAT 1 -- us2k10--------
    rs1828346691,2
    --149131659(+) CAGCTA/GGGCAG 1 -- us2k10--------
    rs1481773491,2
    --149131870(+) GATATG/TATTCC 1 -- us2k10--------
    rs1157186481,2
    F--149131948(+) TCCTCC/TGCCTG 1 -- us2k11Minor allele frequency- T:0.02WA 118
    rs1440884421,2
    C--149132091(+) ATCACC/GACCCA 1 -- us2k10--------
    rs768876101,2
    C,F--149132122(+) CACAGC/GAGATT 1 -- us2k12Minor allele frequency- G:0.04CSA WA 120

    HapMap Linkage Disequilibrium report for KIF5C (149632819 - 149882819 bp, first 250kb of KIF5C)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for KIF5C:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2664279CNV Deletion23128226
    nsv2963CNV Insertion18451855
    nsv508874CNV Insertion20534489
    nsv834407CNV Loss17160897
    nsv834408CNV Gain17160897
    esv2751831CNV Gain17911159

    Human Gene Mutation Database (HGMD): KIF5C
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing KIF5C
    DNA2.0 Custom Variant and Variant Library Synthesis for KIF5C

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604593   
    OMIM disorders: 615282  
    UniProtKB/Swiss-Prot: KIF5C_HUMAN, O60282
  • Cortical dysplasia, complex, with other brain malformations 2 (CDCBM2) [MIM:615282]: A disorder of
    aberrant neuronal migration and disturbed axonal guidance. Clinical features include intrauterine growth
    retardation, fetal akinesia, seizures, microcephaly, lack of psychomotor development, and arthrogryposis. Brain
    imaging shows malformations of cortical development, including polymicrogyria, gyral simplification, and thin
    corpus callosum. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 8 diseases for KIF5C:    
    About MalaCards
    cortical dysplasia, complex, with other brain malformations 2    neuronitis    intellectual disability    cystic fibrosis
    multiple myeloma    myeloma    prostatitis    endotheliitis


    KIF5C for disorders           About GeneDecksing

    Genetic Association Database (GAD): KIF5C
    Human Genome Epidemiology (HuGE) Navigator: KIF5C (1 document)

    Export disorders for KIF5C gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for KIF5C gene, integrated from 10 sources (see all 29):
    (articles sorted by number of sources associating them with KIF5C)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    2. GRIF-1 and OIP106, members of a novel gene family of coiled-coil domain proteins: association in vivo and in vitro with kinesin. (PubMed id 15644324)1, 2 Brickley K.... Stephenson F.A. (J. Biol. Chem. 2005)
    3. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9628581)1, 2 Nagase T....Ohara O. (DNA Res. 1998)
    4. Huntingtin-associated protein 1 (HAP1) interacts with the p150Glued subunit of dynactin. (PubMed id 9361024)1, 2 Engelender S.... Ross C.A. (Hum. Mol. Genet. 1997)
    5. Cloning and localization of a conventional kinesin motor expressed exclusively in neurons. (PubMed id 7514426)1, 3 Niclas J.... Vale R.D. (Neuron 1994)
    6. Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. (PubMed id 23603762)2 Poirier K....Chelly J. (Nat. Genet. 2013)
    7. Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. (PubMed id 23453885)1 (Lancet 2013)
    8. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
    9. Diagnostic exome sequencing in persons with severe intellectual disability. (PubMed id 23033978)2 de Ligt J.... Vissers L.E. (N. Engl. J. Med. 2012)
    10. Multiple myeloma-associated chromosomal translocation activates orphan snoRNA ACA11 to suppress oxidative stress. (PubMed id 22751105)1 Chu L....Tomasson M.H. (J. Clin. Invest. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3800 HGNC: 6325 AceView: KIF5C Ensembl:ENSG00000168280 euGenes: HUgn3800
    ECgene: KIF5C Kegg: 3800 H-InvDB: KIF5C

    (According to HUGE)
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    HUGE: KIAA0531

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for KIF5C Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for KIF5C gene:
    Search GeneIP for patents involving KIF5C

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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