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KIF2A Gene

protein-coding   GIFtS: 61
GCID: GC05P061601

Kinesin Heavy Chain Member 2A

(Previous name: kinesin heavy chain member 2)
(Previous symbol: KIF2)
  See KIF2A-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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This gene clusters with an RNA gene
Subcategory (RNA class): antisense

Quality score for the ORGUL clustered with this gene is 3

Aliases
Kinesin Heavy Chain Member 2A1 2     kinesin-22
KIF21 2 3     Kinesin-Like Protein KIF2A2
CDCBM32 5     KNS23
Kinesin Heavy Chain Member 21     Kinesin-23
HK22     hK23
Kinesin, Heavy Chain, 22     

External Ids:    HGNC: 63181   Entrez Gene: 37962   Ensembl: ENSG000000687967   OMIM: 6025915   UniProtKB: O001393   
ORGUL members:         

Export aliases for KIF2A gene to outside databases

Previous GC identifers: GC05P061638 GC05P058558


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for KIF2A Gene:
The protein encoded by this gene is a plus end-directed motor required for normal mitotic progression. The encoded
protein is required for normal spindle activity during mitosis and is necessary for normal brain development.
Several transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Sep
2011)

GeneCards Summary for KIF2A Gene:
KIF2A (kinesin heavy chain member 2A) is a protein-coding gene. Diseases associated with KIF2A include cortical dysplasia, complex, with other brain malformations 3, and cortical dysplasia, complex, with other brain malformations. GO annotations related to this gene include microtubule binding and motor activity. An important paralog of this gene is KIF24.

UniProtKB/Swiss-Prot: KIF2A_HUMAN, O00139
Function: Plus end-directed microtubule-dependent motor required for normal brain development. May regulate
microtubule dynamics during axonal growth. Required for normal progression through mitosis. Required for normal
congress of chromosomes at the metaphase plate. Required for normal spindle dynamics during mitosis. Promotes
spindle turnover. Implicated in formation of bipolar mitotic spindles. Has microtubule depolymerization activity

summary for KIF2A Gene:
Mitochondrial Hexokinases catalyze the first essential step of glucose metabolism, the conversion of glucose
into glucose-6-phosphate. This directly couples extramitochondrial glycolysis to intramitochondrial
oxidative phosphorylation. There are two subtypes of mitochondrial hexokinases, HK1 and HK2, each of which
has four isozymes designated hexokinase I, II, III and IV. HK1 and HK2 are both localized to the outer
mitochondrial membrane, with HK1 being found in nervous tissue and HK2 in insulin-responsive tissues such as
skeletal muscle. Activation of mitochondrial hexokinases is regulated by Akt/PKB-mediated phosphorylation
and they are subject to inhibiton by their end product, glucose-6-phosphate. In addition to glucose
metabolism, mitochondrial hexokinases have been implicated in antiapoptotic and cell survival signaling.

Gene Wiki entry for KIF2A 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 at NCBI GenBank:
NC_000005.9  NC_018916.2  NT_034772.7  
Regulatory elements:
   Regulatory transcription factor binding sites in the KIF2A gene promoter:
         ISGF-3   AP-2alpha isoform 3   CUTL1   AP-2alpha isoform 2   Cdc5   FOXJ2 (long isoform)   FOXJ2   AP-2alpha isoform 4   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKIF2A promoter sequence
   Search Chromatin IP Primers for KIF2A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KIF2A


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

Entrez Gene cytogenetic band: 5q12-q13   Ensembl cytogenetic band:  5q12.1   HGNC cytogenetic band: 5q12-q13

KIF2A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIF2A gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P061601:  view genomic region     (about GC identifiers)

Start:
61,601,989 bp from pter      End:
61,833,076 bp from pter
Size:
231,088 bases      Orientation:
plus strand

(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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: KIF2A_HUMAN, O00139 (See protein sequence)
Recommended Name: Kinesin-like protein KIF2A  
Size: 706 amino acids; 79955 Da
Subunit: Interacts with AURKA, PSRC1 and PLK1
Miscellaneous: HeLa cells lacking KIF2A show asymmetric or monopolar mitotic spindles. Osteosarcoma cells (U2OS)
lacking KIF2A or KIF2B show disorganised or monopolar mitotic spindles
Sequence caution: Sequence=AAP84320.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
1 PDB 3D structure from and Proteopedia for KIF2A:
2GRY (3D)    
Secondary accessions: A5YM42 A5YM54 B4DY54 D3DW97 E9PB70 Q7Z5I3 Q8N5Q7
Alternative splicing: 5 isoforms:  O00139-3   O00139-1   O00139-2   O00139-4   O00139-5   (Gene prediction based on EST data)

Explore the universe of human proteins at neXtProt for KIF2A: NX_O00139

Explore proteomics data for KIF2A at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See KIF2A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001091981.1  NP_001230881.1  NP_001230882.1  NP_004511.2  

    ENSEMBL proteins: 
     ENSP00000385622   ENSP00000370493   ENSP00000423542   ENSP00000385000   ENSP00000425411  
     ENSP00000423772   ENSP00000421041  
    Reactome Protein details: O00139

    KIF2A Human Recombinant Protein Products:

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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 O00139

    ProtoNet protein and cluster: O00139

    1 Blocks protein domain: IPB001752 Kinesin

    UniProtKB/Swiss-Prot: KIF2A_HUMAN, O00139
    Similarity: Belongs to the kinesin-like protein family. MCAK/KIF2 subfamily
    Similarity: Contains 1 kinesin-motor domain


    Find genes that share domains with KIF2A           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KIF2A_HUMAN, O00139
    Function: Plus end-directed microtubule-dependent motor required for normal brain development. May regulate
    microtubule dynamics during axonal growth. Required for normal progression through mitosis. Required for normal
    congress of chromosomes at the metaphase plate. Required for normal spindle dynamics during mitosis. Promotes
    spindle turnover. Implicated in formation of bipolar mitotic spindles. Has microtubule depolymerization activity

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003774motor activity TAS9177777
    GO:0003777microtubule motor activity IEA--
    GO:0005515protein binding IPI18411309
    GO:0005524ATP binding IEA--
    GO:0008017microtubule binding IEA--
         
    Find genes that share ontologies with KIF2A           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for KIF2A:
     Upregulation of Wnt/beta-caten 

         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Kif2a):
     behavior/neurological  cellular  mortality/aging  nervous system  no phenotypic analysis 

    Find genes that share phenotypes with KIF2A           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Kif2atm1Noh for KIF2A

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    hsa-miR-3673 hsa-miR-520d-5p hsa-miR-3614-3p hsa-miR-202 hsa-miR-15a hsa-miR-218 hsa-miR-3692 hsa-miR-124
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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
    KIF2A_HUMAN, O00139: Cytoplasm (By similarity). Cytoplasm, cytoskeleton, microtubule organizing center,
    centrosome. Cytoplasm, cytoskeleton, spindle pole. Cytoplasm, cytoskeleton, spindle. Note=Localized to the
    spindle microtubules and spindle poles from prophase to metaphase. Efficient targeting to spindle microtubules
    and spindle poles requires the kinase activity of PLK1. Recruited to mitotic spindles by interaction with PSRC1
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol4
    nucleus2

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000922colocalizes with spindle pole IDA18411309
    GO:0005813centrosome IDA--
    GO:0005829cytosol TAS--
    GO:0005871kinesin complex IEA--
    GO:0005876colocalizes with spindle microtubule IDA18411309

    Find genes that share ontologies with KIF2A           About GenesLikeMe


    (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 KIF2A About   (see all 9)  
    See pathways by source

    SuperPathContained pathways About
    1Mitotic Metaphase and Anaphase
    Mitotic Anaphase0.94
    Mitotic Metaphase and Anaphase0.93
    Separation of Sister Chromatids0.94
    2Cell Cycle, Mitotic
    Cell Cycle, Mitotic0.90
    M Phase0.62
    Cell Cycle0.90
    3Mitotic Prometaphase
    Mitotic Prometaphase0.92
    Resolution of Sister Chromatid Cohesion0.92
    4Hemostasis
    Hemostasis0.43
    5Class I MHC mediated antigen processing and presentation
    Adaptive Immune System0.41


    Find genes that share SuperPaths with KIF2A           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for KIF2A
        Reelin Pathway (Cajal-Retzius cells)

    1 BioSystems Pathway for KIF2A
        PLK1 signaling events

    5 Reactome Pathways for KIF2A
        Resolution of Sister Chromatid Cohesion
    Mitotic Prometaphase
    Separation of Sister Chromatids
    MHC class II antigen presentation
    Kinesins


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KIF2A
    Interactions:

        Search GeneGlobe Interaction Network for KIF2A

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

    Selected Interacting proteins for KIF2A (O001393 ENSP000003850004) via UniProtKB, MINT, STRING, and/or I2D (see all 99)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KLC2Q9H0B63, ENSP000003148374I2D: score=1 STRING: ENSP00000314837
    TSNAXQ995983, ENSP000003555994I2D: score=1 STRING: ENSP00000355599
    KLC1Q078663, ENSP000004149824I2D: score=1 STRING: ENSP00000414982
    CLSTN1O949853, ENSP000003665134I2D: score=1 STRING: ENSP00000366513
    HDAC1Q135473, ENSP000003626494I2D: score=1 STRING: ENSP00000362649
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000278mitotic cell cycle TAS--
    GO:0007018microtubule-based movement TAS--
    GO:0007052mitotic spindle organization IDA18411309
    GO:0007067mitosis IEA--
    GO:0007399nervous system development IEA--

    Find genes that share ontologies with KIF2A           About GenesLikeMe



    (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 

    Compounds for KIF2A available from Tocris Bioscience    About this table
    CompoundAction CAS #
    2-Deoxy-D-glucoseNon-metabolizable glucose analog; hexokinase substrate[154-17-6]
    LonidamineMitochondrial hexokinase inhibitor[50264-69-2]



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for KIF2A gene (4 alternative transcripts): 
    NM_001098511.2  NM_001243952.1  NM_001243953.1  NM_004520.4  

    Unigene Cluster for KIF2A:

    Kinesin heavy chain member 2A
    Hs.558351  [show with all ESTs]
    Unigene Representative Sequence: NM_001243952
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000401507 ENST00000509663 ENST00000381103(uc003jsz.4 uc003jsx.4 uc010iwp.3 uc003jsy.4 uc010iwq.3)
    ENST00000514082 ENST00000407818 ENST00000504883 ENST00000512541 ENST00000506857
    ENST00000512006 ENST00000509624
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    Additional mRNA sequence: 

    AF119867.2 AK057153.1 AK297347.1 AK302270.1 AK307880.1 AK315866.1 AY317140.1 AY429552.1 
    BC031828.2 BC047544.1 EF560716.1 EF560728.1 Y08319.1 

    13 DOTS entries:

    DT.454311  DT.100862004  DT.95119316  DT.101986330  DT.92005971  DT.120847501  DT.95276142  DT.97837631 
    DT.100681062  DT.92446375  DT.95355297  DT.100645026  DT.75172654 

    Selected AceView cDNA sequences (see all 361):

    AI082196 BU194800 BE018816 BM453907 AA759298 AI742169 AL705867 BM664559 
    AW205399 AW512269 D80250 AU132772 F11417 CD652417 CB053653 AA284035 
    BM460375 AI458445 BF431601 BF589571 BQ030001 BF338380 AU131467 BM857630 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for KIF2A (see all 6)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^
    SP1:                                            -                                                     -                                                         
    SP2:                                                                                                  -                                                         
    SP3:                                            -                                                                                                               
    SP4:                                      -     -                                                                                                               
    SP5:        -     -     -     -     -     -     -     -     -                                         -                                                         

    ExUns: 20a · 20b
    SP1:            
    SP2:            
    SP3:            
    SP4:            
    SP5:            


    ECgene alternative splicing isoforms for KIF2A

    (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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    KIF2A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGATTATAAT
    KIF2A Expression
    About this image

    KIF2A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KIF2A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.558351
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    (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 KIF2A gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kif2a1 , 5 kinesin family member 2A1, 5 92.06(n)1
    98.16(a)1
      13 (58.06 cM)5
    165631  NM_001145779.11  NP_001139251.11 
     1069589965 
    chicken
    (Gallus gallus)
    Aves KIF2A1 kinesin heavy chain member 2A 87.58(n)
    95.33(a)
      427156  NM_001039312.2  NP_001034401.2 
    lizard
    (Anolis carolinensis)
    Reptilia KIF2A6
    kinesin heavy chain member 2A
    87(a)
    1 ↔ 1
    2(8244688-8322450)
    African clawed frog
    (Xenopus laevis)
    Amphibia kif2-A-prov2 kinesin-related protein XKIF2 80.47(n)    U36486.2 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1036701 zgc:103670 74.1(n)
    85.29(a)
      447926  NM_001004664.2  NP_001004664.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta Klp10A1 Klp10A 50.55(n)
    51.65(a)
      32049  NM_167270.1  NP_727494.1 
    worm
    (Caenorhabditis elegans)
    Secernentea klp-76
    Protein KLP-7, isoform a
    41(a)
    1 → many
    III(10805930-10811001) WBGene00002219
    rice
    (Oryza sativa)
    Liliopsida Os.163032 Oryza sativa (japonica cultivar-group) cDNA cloneJ023079H05, full insert sequence less 74.95(n)    NM_192882.1 


    ENSEMBL Gene Tree for KIF2A (if available)
    TreeFam Gene Tree for KIF2A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KIF2A gene
    KIF242  KIF2B2  KIF2C2  
    7 SIMAP similar genes for KIF2A using alignment to 4 protein entries:     KIF2A_HUMAN (see all proteins):
    KIF2B    KIF2C    KIF5C    KIF5B    KIF3A    KIF6
    KIF5A

    Find genes that share paralogs with KIF2A           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for KIF2A
    PGOHUM00000250058


    (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 KIF2A (see all 1533)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0705754
    Cortical dysplasia, complex, with other brain malformations 3 (CDCBM3)4--see VAR_0705752 S N mis40--------
    VAR_0705764
    Cortical dysplasia, complex, with other brain malformations 3 (CDCBM3)4--see VAR_0705762 H D mis40--------
    rs358080561,2
    C,F--61600006(+) TACAAA/C/G/
            
    AAATT
    4 -- us2k13NA 124
    rs1882497681,2
    --61600072(+) GAGAAA/TAACTT 4 -- us2k10--------
    rs1458113351,2
    --61600118(+) CATGCC/TACTGC 4 -- us2k10--------
    rs1115474421,2
    C--61600160(+) GTCTCTAA/-TAATA 4 -- cds11Minor allele frequency- -:0.50CSA 2
    rs131597501,2
    C,A--61600316(+) GAGCTC/TGAAGA 4 -- us2k16Minor allele frequency- T:0.43NA WA CSA EA 363
    rs133611431,2
    C,F,H--61600367(+) TAAACC/GCTGAT 4 -- us2k111Minor allele frequency- G:0.42NS EA NA WA CSA 778
    rs126969881,2
    C,F--61600395(+) GAAACA/CGGGGT 4 -- us2k112Minor allele frequency- C:0.13NA WA CSA EA 375
    rs1119562981,2
    C,F--61600644(+) ATAAGC/TATTGA 4 -- us2k12Minor allele frequency- T:0.18CSA WA 120

    HapMap Linkage Disequilibrium report for KIF2A (61601989 - 61833076 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for KIF2A:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv273821CNV Insertion20981092
    esv268685CNV Insertion20981092
    nsv881728CNV Loss21882294
    nsv881727CNV Loss21882294
    nsv830318CNV Gain17160897
    nsv881726CNV Gain21882294
    esv35035CNV Gain17911159
    essv5631CNV CNV17122850
    dgv1801e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): KIF2A
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KIF2A
    DNA2.0 Custom Variant and Variant Library Synthesis for KIF2A

    (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: 602591   
    OMIM disorders: 615411  
    UniProtKB/Swiss-Prot: KIF2A_HUMAN, O00139
  • Cortical dysplasia, complex, with other brain malformations 3 (CDCBM3) [MIM:615411]: A disorder of
    aberrant neuronal migration and disturbed axonal guidance. Clinical features include early-onset epilepsy, and
    various malformations of cortical development such as agyria, posterior or frontal pachygyria, subcortical band
    heterotopia, and thin corpus callosum. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • 2 diseases for KIF2A:    
    About MalaCards
    cortical dysplasia, complex, with other brain malformations 3    cortical dysplasia, complex, with other brain malformations

    1 disease from the University of Copenhagen DISEASES database for KIF2A:
    Tongue cancer

    Find genes that share disorders with KIF2A           About GenesLikeMe

    Genetic Association Database (GAD): KIF2A
    Human Genome Epidemiology (HuGE) Navigator: KIF2A (1 document)

    Export disorders for KIF2A 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 KIF2A gene, integrated from 10 sources (see all 35):
    (articles sorted by number of sources associating them with KIF2A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a novel human kinesin-related gene (HK2) by the cDNA differential display technique. (PubMed id 9177777)1, 2, 3, 9 Debernardi S.... Delia D. (Genomics 1997)
    2. A family-based association study of kinesin heavy chain member 2 gene (KIF2) and schizophrenia. (PubMed id 16959419)1, 4, 9 Li C....He L. (Neurosci. Lett. 2006)
    3. Plk1 and Aurora A regulate the depolymerase activity and the cellular localization of Kif2a. (PubMed id 19351716)1, 2 Jang C.Y.... Fang G. (J. Cell Sci. 2009)
    4. DDA3 recruits microtubule depolymerase Kif2a to spindle poles and controls spindle dynamics and mitotic chromosome movement. (PubMed id 18411309)1, 2 Jang C.Y.... Fang G. (J. Cell Biol. 2008)
    5. The kinesin-13 proteins Kif2a, Kif2b, and Kif2c/MCAK have distinct roles during mitosis in human cells. (PubMed id 17538014)1, 2 Manning A.L....Compton D.A. (Mol. Biol. Cell 2007)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. Examining post-translational modification-mediated protein-protein interactions using a chemical proteomics approach. (PubMed id 23281010)1 Li X....Kapoor T.M. (Protein Sci. 2013)
    8. Aurora B and Kif2A control microtubule length for assembly of a functional central spindle during anaphase. (PubMed id 23960144)1 Uehara R....Goshima G. (J. Cell Biol. 2013)
    9. Protein interaction network of the mammalian Hippo pathway reveals mechanisms of kinase-phosphatase interactions. (PubMed id 24255178)1 Couzens A.L....Gingras A.C. (Sci Signal 2013)
    10. 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)

    (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: 3796 HGNC: 6318 AceView: KIF2 Ensembl:ENSG00000068796 euGenes: HUgn3796
    ECgene: KIF2A H-InvDB: KIF2A

    (According to HUGE)
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      --

    (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 KIF2A 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 KIF2A gene:
    Search GeneIP for patents involving KIF2A

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



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