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KIF21A Gene

protein-coding   GIFtS: 60
GCID: GC12M039687

Kinesin Family Member 21A

(Previous names: fibrosis of the extraocular muscles, congenital, 1)
(Previous symbol: FEOM1)
  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 21A1 2     Fibrosis Of The Extraocular Muscles, Congenital, 11
FEOM11 2 5     FEOM3A2
Kinesin-Like Protein KIF22 3     Kinesin-Like Protein KIF21A2
Renal Carcinoma Antigen NY-REN-622 3     KIF23
CFEOM12 5     CFEOM3B5
KIAA17083 5     

External Ids:    HGNC: 193491   Entrez Gene: 556052   Ensembl: ENSG000001391167   OMIM: 6082835   UniProtKB: Q7Z4S63   

Export aliases for KIF21A gene to outside databases

Previous GC identifers: GC12U990160 GC12M039586 GC12M039404 GC12M037973 GC12M036712


(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 KIF21A Gene:
This gene encodes a member of the KIF4 subfamily of kinesin-like motor proteins. The encoded protein is
characterized by an N-terminal motor domain a coiled-coil stalk domain and a C-terminal WD-40 repeat domain. This
protein may be involved in microtubule dependent transport. Mutations in this gene are the cause of congenital
fibrosis of extraocular muscles-1. Alternate splicing results in multiple transcript variants.(provided by
RefSeq, Mar 2010)

GeneCards Summary for KIF21A Gene:
KIF21A (kinesin family member 21A) is a protein-coding gene. Diseases associated with KIF21A include kif21a-related congenital fibrosis of the extraocular muscles, and fibrosis of extraocular muscles, congenital, 1. GO annotations related to this gene include microtubule binding and microtubule motor activity. An important paralog of this gene is KIF4A.

UniProtKB/Swiss-Prot: KI21A_HUMAN, Q7Z4S6
Function: Microtubule-binding motor protein probably involved in neuronal axonal transport. In vitro, has a
plus-end directed motor activity (By similarity)

Gene Wiki entry for KIF21A 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_000012.12  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the KIF21A gene promoter:
         HFH-3   C/EBPalpha   YY1   FOXI1   S8   POU2F1   HFH-1   POU2F1a   TGIF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKIF21A promoter sequence
   Search Chromatin IP Primers for KIF21A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KIF21A


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

Entrez Gene cytogenetic band: 12q12   Ensembl cytogenetic band:  12q12   HGNC cytogenetic band: 12q12

KIF21A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIF21A gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M039687:  view genomic region     (about GC identifiers)

Start:
39,687,030 bp from pter      End:
39,837,192 bp from pter
Size:
150,163 bases      Orientation:
minus 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, 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: KI21A_HUMAN, Q7Z4S6 (See protein sequence)
Recommended Name: Kinesin-like protein KIF21A  
Size: 1674 amino acids; 187179 Da
Sequence caution: Sequence=AAD42883.1; Type=Frameshift; Positions=185, 191, 380, 405; Sequence=AAH41430.1;
Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=AAP97680.1;
Type=Frameshift; Positions=185, 191; Sequence=BAA90916.1; Type=Miscellaneous discrepancy; Note=Contaminating
sequence. Potential poly-A sequence;
Secondary accessions: A8MX28 B0I1R9 B9EGE4 F5H0C3 F5H219 Q2UVF1 Q6UKL9 Q7Z668 Q86WZ5 Q8IVZ8
Q9C0F5 Q9NXU4 Q9Y590
Alternative splicing: 6 isoforms:  Q7Z4S6-1   Q7Z4S6-2   Q7Z4S6-3   Q7Z4S6-4   Q7Z4S6-5   Q7Z4S6-6   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for KIF21A: NX_Q7Z4S6

Explore proteomics data for KIF21A at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See KIF21A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001166934.1  NP_001166935.1  NP_001166936.1  NP_060111.2  

    ENSEMBL proteins: 
     ENSP00000354851   ENSP00000448792   ENSP00000447765   ENSP00000445606   ENSP00000354878  
     ENSP00000438075   ENSP00000449698   ENSP00000447070   ENSP00000449700   ENSP00000379029  

    KIF21A Human Recombinant Protein Products:

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    Cloud-Clone Corp. CLIAs for KIF21A


    (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
    WDR: WD repeat domain containing

    Selected InterPro protein domains (see all 9):
     IPR009053 Prefoldin
     IPR019775 WD40_repeat_CS
     IPR027417 P-loop_NTPase
     IPR001680 WD40_repeat
     IPR001752 Kinesin_motor_dom

    Graphical View of Domain Structure for InterPro Entry Q7Z4S6

    ProtoNet protein and cluster: Q7Z4S6

    1 Blocks protein domain: IPB001752 Kinesin

    UniProtKB/Swiss-Prot: KI21A_HUMAN, Q7Z4S6
    Similarity: Belongs to the kinesin-like protein family
    Similarity: Contains 1 kinesin-motor domain
    Similarity: Contains 7 WD repeats


    KIF21A 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: KI21A_HUMAN, Q7Z4S6
    Function: Microtubule-binding motor protein probably involved in neuronal axonal transport. In vitro, has a
    plus-end directed motor activity (By similarity)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003777microtubule motor activity IEA--
    GO:0005488binding ----
    GO:0005515protein binding IPI19020088
    GO:0005524ATP binding IEA--
    GO:0008017microtubule binding IEA--
         
    KIF21A for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KIF21A
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    miRNA
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    miRTarBase miRNAs that target KIF21A:
    hsa-mir-140-3p (MIRT021669), hsa-mir-10a-5p (MIRT047583), hsa-mir-186-5p (MIRT045268), hsa-mir-10b-5p (MIRT047432)

    Block miRNA regulation of human, mouse, rat KIF21A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate KIF21A (see all 29):
    hsa-miR-579 hsa-miR-520d-5p hsa-miR-15a hsa-miR-485-3p hsa-miR-503 hsa-miR-1258 hsa-miR-103a hsa-miR-424
    SwitchGear 3'UTR luciferase reporter plasmidKIF21A 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat KIF21A

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 4): KIF21A (NM_017641)
    Browse Sino Biological Human cDNA Clones
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIF21A


    (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
    KI21A_HUMAN, Q7Z4S6: Cytoplasm, cytoskeleton (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton4
    cytosol3
    nucleus2

    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--

    KIF21A 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 KIF21A About    
    See pathways by source

    SuperPathContained pathways About
    1Reelin Pathway (Cajal-Retzius cells)
    Reelin Pathway (Cajal-Retzius cells)

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for KIF21A
        Reelin Pathway (Cajal-Retzius cells)


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KIF21A
    Interactions:

        Search GeneGlobe Interaction Network for KIF21A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    Selected Interacting proteins for KIF21A (Q7Z4S61, 2, 3 ENSP000003548514) via UniProtKB, MINT, STRING, and/or I2D (see all 789)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CDC5LQ994592, ENSP000003605324MINT-7945693 MINT-7947479 STRING: ENSP00000360532
    CKAP5Q140082, ENSP000003465664MINT-7945693 MINT-7947479 STRING: ENSP00000346566
    ELAVL1Q157172, ENSP000003852694MINT-7945693 MINT-7947479 STRING: ENSP00000385269
    SNW1Q135732, ENSP000002615314MINT-7945693 MINT-7947479 STRING: ENSP00000261531
    ARFGEF1Q9Y6D61, ENSP000002622154EBI-6251716,EBI-1044254 STRING: ENSP00000262215
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007018microtubule-based movement IEA--

    KIF21A 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 KIF21A (KI21A)



    (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 KIF21A gene (4 alternative transcripts): 
    NM_001173463.1  NM_001173464.1  NM_001173465.1  NM_017641.3  

    Unigene Cluster for KIF21A:

    Kinesin family member 21A
    Hs.374201  [show with all ESTs]
    Unigene Representative Sequence: NM_001173464
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000547733(uc001rlt.3) ENST00000361961(uc001rlu.3 uc001rlv.3 uc001rlw.3 uc001rlx.3 uc001rlz.3 uc010skl.2)
    ENST00000551264 ENST00000552961 ENST00000544797 ENST00000361418 ENST00000541463
    ENST00000547745 ENST00000547108 ENST00000552475 ENST00000551066 ENST00000546817
    ENST00000550429 ENST00000552908 ENST00000395670(uc001rly.3)
    miRNA
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    Block miRNA regulation of human, mouse, rat KIF21A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate KIF21A (see all 29):
    hsa-miR-579 hsa-miR-520d-5p hsa-miR-15a hsa-miR-485-3p hsa-miR-503 hsa-miR-1258 hsa-miR-103a hsa-miR-424
    SwitchGear 3'UTR luciferase reporter plasmidKIF21A 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for KIF21A
    Predesigned siRNA for gene silencing in human, mouse, rat KIF21A
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): KIF21A (NM_017641)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KIF21A
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat KIF21A
      QuantiTect SYBR Green Assays in human, mouse, rat KIF21A
      QuantiFast Probe-based Assays in human, mouse, rat KIF21A

    Additional mRNA sequence: 

    AB051495.2 AB290166.1 AF155117.1 AF450487.1 AK000059.1 AM177179.1 AY368076.1 BC032344.1 
    BC041430.1 BC047572.1 BC136414.1 BX537855.1 

    8 DOTS entries:

    DT.313386  DT.100680848  DT.99956111  DT.100782971  DT.99978500  DT.95262865  DT.97838517  DT.304281 

    Selected AceView cDNA sequences (see all 141):

    AW129306 BQ723198 CB068670 BX279758 BI260909 AA214349 BM662588 BI258976 
    BU151008 AL526004 AI520660 BU687068 AA573847 CB069933 BQ717428 AI815500 
    BQ882439 AY368076 BU785011 CR624607 AA845381 BC041430 BI916829 AI857856 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for KIF21A (see all 16)    About this scheme

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

    ExUns: 18 ^ 19a · 19b ^ 20 ^ 21a · 21b ^ 22a · 22b ^ 23a · 23b ^ 24 ^ 25 ^ 26a · 26b ^ 27 ^ 28 ^ 29a · 29b ^ 30a · 30b ^ 31 ^ 32a · 32b ^ 33 ^ 34a · 34b ·
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                              -                                                                                             
    SP5:                                                                                                                                                            

    ExUns: 34c ^ 35 ^ 36 ^ 37 ^ 38
    SP1:                              
    SP2:                              
    SP3:                              
    SP4:                              
    SP5:                              


    ECgene alternative splicing isoforms for KIF21A

    (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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    KIF21A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGCTATGAA
    KIF21A Expression
    About this image


    KIF21A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Myelinating Oligodendrocyte Cells Forebrain White Matter
             Cerebral Cortex
     
     Testis (Reproductive System)
             Pre-Sertoli Cells Testis Cord
    KIF21A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KIF21A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.374201
        Custom PCR Arrays for KIF21A
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIF21A

    (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 animals.

    Orthologs for KIF21A gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kif21a1 , 5 kinesin family member 21A1, 5 86.42(n)1
    93.48(a)1
      15 (45.86 cM)5
    165641  NM_001109041.21  NP_001102511.11 
     909332765 
    chicken
    (Gallus gallus)
    Aves KIF21A1 kinesin family member 21A 81.03(n)
    86.86(a)
      417692  XM_004934759.1  XP_004934816.1 
    lizard
    (Anolis carolinensis)
    Reptilia KIF21A6
    kinesin family member 21A
    86(a)
    1 ↔ 1
    5(98694265-98829783)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.106012 Xenopus laevis transcribed sequence with moderate similarity to protein pirT00066 (H.sapiens) T00066 hypothetical protein KIAA0449 - human (fragment) less 76.89(n)    CF342339.1 
    zebrafish
    (Danio rerio)
    Actinopterygii kif21a1 kinesin family member 21A 66.05(n)
    72.36(a)
      566481  XM_001920223.4  XP_001920258.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta Klp31E1 Klp31E 52.08(n)
    48.64(a)
      34422  NM_001169466.2  NP_001162937.2 
    worm
    (Caenorhabditis elegans)
    Secernentea klp-121 klp-12 45.53(n)
    35.1(a)
      178057  NM_001028178.3  NP_001023349.1 


    ENSEMBL Gene Tree for KIF21A (if available)
    TreeFam Gene Tree for KIF21A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KIF21A gene
    KIF4A2  KIF3A2  KIF5B2  KIF5C2  KIF112  KIF3B2  KIF21B2  KIF172  
    KIF152  CENPE2  KIF5A2  KIF72  KIF4B2  KIF272  KIF3C2  
    Selected SIMAP similar genes for KIF21A using alignment to 7 protein entries:     KI21A_HUMAN (see all proteins) (see all similar genes):
    DKFZp779C159    KIF21B    KIF7    KIF27    KIF17    KIF28P
    KIF18A    KIF1B    KIF1Bbeta    KIF13A    KIF3A    KIF13B
    KIF4A    KIF5B    CENPE    KIF22    KIF3C    KIF1A

    KIF21A 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 KIF21A (see all 2755)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0194014
    Congenital fibrosis of extraocular muscles 1 (CFEOM1)4--see VAR_0194012 M V mis40--------
    VAR_0270214
    Congenital fibrosis of extraocular muscles 1 (CFEOM1)4--see VAR_0270212 M T mis40--------
    VAR_0194044
    Congenital fibrosis of extraocular muscles 1 (CFEOM1)4--see VAR_0194042 I T mis40--------
    VAR_0194024
    Congenital fibrosis of extraocular muscles 1 (CFEOM1)4--see VAR_0194022 R Q mis40--------
    VAR_0194004
    Congenital fibrosis of extraocular muscles 1 (CFEOM1)4--see VAR_0194002 M R mis40--------
    VAR_0194034
    Congenital fibrosis of extraocular muscles 1 (CFEOM1)4--see VAR_0194032 R W mis40--------
    VAR_0193994
    Congenital fibrosis of extraocular muscles 1 (CFEOM1)4--see VAR_0193992 M T mis40--------
    rs1857192091,2
    --39530567(+) TATGTA/TGAAGG 4 -- ds50010--------
    rs1903512861,2
    --39530579(+) GAATGC/GTTAAG 4 -- ds50010--------
    rs1127356071,2
    F--39530714(+) GGTCAC/TCACTG 4 -- ds50011Minor allele frequency- T:0.50CSA 2

    HapMap Linkage Disequilibrium report for KIF21A (39687030 - 39837192 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for KIF21A:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2494882CNV Deletion19546169
    nsv680CNV Insertion18451855
    esv6322CNV Gain19470904
    nsv470286CNV Gain18288195
    dgv21n68CNV Gain17160897
    nsv899013CNV Gain21882294

    Human Gene Mutation Database (HGMD): KIF21A
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KIF21A
    DNA2.0 Custom Variant and Variant Library Synthesis for KIF21A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608283   
    OMIM disorders: 135700  
    UniProtKB/Swiss-Prot: KI21A_HUMAN, Q7Z4S6
  • Congenital fibrosis of extraocular muscles 1 (CFEOM1) [MIM:135700]: A congenital ocular motility disorder
    marked by restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear
    nerves. It is clinically characterized by anchoring of the eyes in downward gaze, ptosis, and backward tilt of
    the head. Patients affected by congenital fibrosis of extraocular muscles type 1 show an absence of the superior
    division of the oculomotor nerve (cranial nerve III) and corresponding oculomotor subnuclei. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 18 diseases for KIF21A:    
    About MalaCards
    kif21a-related congenital fibrosis of the extraocular muscles    fibrosis of extraocular muscles, congenital, 1    congenital fibrosis of the extraocular muscles 3b    congenital fibrosis of the extraocular muscles 2
    congenital fibrosis of the extraocular muscles    histidinemia    enophthalmos    amblyopia
    hyperopia    strabismus    astigmatism    ophthalmoplegia
    down syndrome    renal cell carcinoma    schizophrenia    multiple myeloma
    myeloma    neuronitis

    4 diseases from the University of Copenhagen DISEASES database for KIF21A:
    Ophthalmoplegia     Hyperopia     Enophthalmos     Amblyopia

    KIF21A for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for KIF21A gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cfeom 98.2 18 11882252 (5), 16157808 (4), 15621876 (2), 19551685 (2) (see all 6)
    cfeom2 94.5 3 11882252 (2)

    GeneTests: KIF21A
    GeneReviews: KIF21A
    Genetic Association Database (GAD): KIF21A
    Human Genome Epidemiology (HuGE) Navigator: KIF21A (1 document)

    Export disorders for KIF21A 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 KIF21A gene, integrated from 10 sources (see all 59):
    (articles sorted by number of sources associating them with KIF21A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Marcus Gunn jaw-winking phenomenon. (PubMed id 16157808)1, 2, 9 Yamada K.... Engle E.C. (Arch. Ophthalmol. 2005)
    2. Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients. (PubMed id 15621876)1, 4, 9 Tiab L....Schorderet D. (Ophthalmic Genet. 2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. 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)
    5. Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). (PubMed id 14595441)1, 2 Yamada K.... Engle E.C. (Nat. Genet. 2003)
    6. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 11214970)1, 2 Nagase T.... Ohara O. (DNA Res. 2000)
    7. Antigens recognized by autologous antibody in patients with renal- cell carcinoma. (PubMed id 10508479)1, 2 Scanlan M.J....Old L.J. (Int. J. Cancer 1999)
    8. Novel dendritic kinesin sorting identified by different process targeting of two related kinesins: KIF21A and KIF21B. (PubMed id 10225949)1, 3 Marszalek J.R....Goldstein L.S. (J. Cell Biol. 1999)
    9. Recurrent mutation of the KIF21A gene in Japanese patients with congenital fibrosis of the extraocular muscles. (PubMed id 16365788)1, 9 Shimizu S....Maruo T. (Jpn. J. Ophthalmol. 2005)
    10. A major mutation of KIF21A associated with congenital fibrosis of the extraocular muscles type 1 (CFEOM1) enhances translocation of Kank1 to the membrane. (PubMed id 19559006)1, 9 Kakinuma N. and Kiyama R. (Biochem. Biophys. Res. Commun. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 55605 HGNC: 19349 AceView: KIF21A Ensembl:ENSG00000139116 euGenes: HUgn55605
    ECgene: KIF21A H-InvDB: KIF21A

    (According to HUGE)
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    HUGE: KIAA1708

    (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 KIF21A Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=KIF21A[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for KIF21A gene:
    Search GeneIP for patents involving KIF21A

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



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