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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

KIF22 Gene

protein-coding   GIFtS: 63
GCID: GC16P029802

Kinesin Family Member 22

(Previous name: kinesin-like 4)
(Previous symbol: KNSL4)
  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)
About This Section

Aliases
Kinesin Family Member 221 2     OBP-22
KNSL41 2 3 5     SEMDJL22
KID2 3 5     Kinesin-Like DNA-Binding Protein Pseudogene2
Kinesin-Like Protein 42 3     Kinesin-Like Protein KIF222
OBP2 5     Origin Of Plasmid DNA Replication-Binding Protein2
Kinesin-Like 41     OriP Binding Protein2
A-328A3.22     Kinesin-Like DNA-Binding Protein3
OBP-12     

External Ids:    HGNC: 63911   Entrez Gene: 38352   Ensembl: ENSG000000796167   OMIM: 6032135   UniProtKB: Q148073   

Export aliases for KIF22 gene to outside databases

Previous GC identifers: GC16P030125 GC16P029800 GC16P029839 GC16P029709 GC16P027462


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for KIF22 Gene:
The protein encoded by this gene is a member of the kinesin-like protein family. The family members are
microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell
division. The C-terminal half of this protein has been shown to bind DNA. Studies with the Xenopus homolog
suggests its essential role in metaphase chromosome alignment and maintenance. Alternatively spliced transcript
variants encoding different isoforms have been found for this gene. (provided by RefSeq, Jan 2012)

GeneCards Summary for KIF22 Gene: 
KIF22 (kinesin family member 22) is a protein-coding gene. Diseases associated with KIF22 include spondyloepimetaphyseal dysplasia joint laxity, and sponastrime dysplasia, and among its related super-pathways are Immune System and Kinesins. GO annotations related to this gene include microtubule motor activity and ATP binding. An important paralog of this gene is KIF18A.

UniProtKB/Swiss-Prot: KIF22_HUMAN, Q14807
Function: Kinesin family that is involved in spindle formation and the movements of chromosomes during mitosis and
meiosis. Binds to microtubules and to DNA

Gene Wiki entry for KIF22 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NT_010393.16  NC_018927.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KIF22 gene promoter:
         p53   ATF-2   Lmo2   Nkx2-5   PPAR-gamma1   HSF2   PPAR-gamma2   c-Jun   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for KIF22

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KIF22


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

Entrez Gene cytogenetic band: 16p11.2   Ensembl cytogenetic band:  16p11.2   HGNC cytogenetic band: 16p11.2

KIF22 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIF22 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P029802:  view genomic region     (about GC identifiers)

Start:
29,802,040 bp from pter      End:
29,816,706 bp from pter
Size:
14,667 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: KIF22_HUMAN, Q14807 (See protein sequence)
Recommended Name: Kinesin-like protein KIF22  
Size: 665 amino acids; 73262 Da
Subunit: Interacts with FAM83D
Subcellular location: Nucleus. Cytoplasm, cytoskeleton (Probable)
Sequence caution: Sequence=AAC08709.1; Type=Erroneous gene model prediction; Sequence=EAW80007.1; Type=Erroneous
gene model prediction;
2 PDB 3D structures from and Proteopedia for KIF22:
2EDU (3D)        3BFN (3D)    
Secondary accessions: B2R5M0 B7Z265 O60845 O94814 Q53F58 Q9BT46
Alternative splicing: 2 isoforms:  Q14807-1   Q14807-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for KIF22: NX_Q14807

Explore proteomics data for KIF22 at MOPED 

Post-translational modifications:

  • UniProtKB: Ubiquitinated; mediated by SIAH1 and leading to its subsequent proteasomal degradation (Probable)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q14807

  • KIF22 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KIF22 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001243198.1  NP_001243199.1  NP_015556.1  

    ENSEMBL proteins: 
     ENSP00000454957   ENSP00000160827   ENSP00000457176   ENSP00000455702   ENSP00000383562  
     ENSP00000456165   ENSP00000460077   ENSP00000383561  
    Reactome Protein details: Q14807
    Human Recombinant Protein Products for KIF22: 
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    Novus Biologicals KIF22 Lysates
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for KIF22 

    Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000776kinetochore TAS8599929
    GO:0000785chromatin IEA--
    GO:0005634nucleus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005819spindle IEA--

    KIF22 for ontologies           About GeneDecksing



    KIF22 Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for KIF22 

    Assay Products for KIF22: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    KIF: Kinesins

    5 InterPro protein domains:
     IPR026986 KIF22
     IPR027417 P-loop_NTPase
     IPR001752 Kinesin_motor_dom
     IPR003583 Hlx-hairpin-Hlx_DNA-bd_motif
     IPR019821 Kinesin_motor_CS

    Graphical View of Domain Structure for InterPro Entry Q14807

    ProtoNet protein and cluster: Q14807

    2 Blocks protein domains:
    IPB001752 Kinesin
    IPB003583 Helix-hairpin-helix DNA-binding


    UniProtKB/Swiss-Prot: KIF22_HUMAN, Q14807
    Similarity: Belongs to the kinesin-like protein family
    Similarity: Contains 1 kinesin-motor domain


    KIF22 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KIF22_HUMAN, Q14807
    Function: Kinesin family that is involved in spindle formation and the movements of chromosomes during mitosis and
    meiosis. Binds to microtubules and to DNA

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003777microtubule motor activity IEA--
    GO:0005524ATP binding IEA--
    GO:0008017microtubule binding IEA--
         
    KIF22 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for KIF22:
     Increased HPV18 LCR reporter a  Upregulation of Wnt/beta-caten 

         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Kif22):
     cellular  embryogenesis  mortality/aging  no phenotypic analysis 

    KIF22 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Kif22tm1.1Tya for KIF22

       inGenious Targeting Laboratory - Custom generated mouse model solutions for KIF22 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for KIF22

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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for KIF22 

    miRNA
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    miRTarBase miRNAs that target KIF22:
    hsa-mir-146a (MIRT005706)

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    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate KIF22
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIF22


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for KIF22 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Immune System
    Immune System0.56
    Adaptive Immune System0.56
    2MHC class II antigen presentation
    MHC class II antigen presentation0.32
    Kinesins0.32
    3Cell cycle Role of APC in cell cycle regulation
    Cell cycle Role of APC in cell cycle regulation0.98
    4Cell cycle Spindle assembly and chromosome separation
    Cell cycle Spindle assembly and chromosome separation0.94
    5Platelet activation, signaling and aggregation
    Hemostasis0.43

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for KIF22
        Cell cycle Role of APC in cell cycle regulation
    Cell cycle Spindle assembly and chromosome separation


    2 GeneGo (Thomson Reuters) Pathways for KIF22
        Cell cycle Role of APC in cell cycle regulation
    Cell cycle Spindle assembly and chromosome separation

    5/6        Reactome Pathways for KIF22 (see all 6)
        Hemostasis
    Factors involved in megakaryocyte development and platelet production
    Adaptive Immune System
    Immune System
    Kinesins



    KIF22 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KIF22

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/12 Interacting proteins for KIF22 (Q148072, 3 ENSP000001608274) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PJA1Q8NG272, 3, ENSP000003550144MINT-64332 I2D: score=5 STRING: ENSP00000355014
    GDF9O603832, 3MINT-64330 I2D: score=5 
    IMMTQ168912, 3MINT-64331 I2D: score=5 
    SIAH1Q8IUQ43, ENSP000003491564I2D: score=3 STRING: ENSP00000349156
    CRKP461083, ENSP000003005744I2D: score=2 STRING: ENSP00000300574
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006281DNA repair IEA--
    GO:0007018microtubule-based movement TAS--
    GO:0007067mitosis TAS8599929
    GO:0007596blood coagulation TAS--
    GO:0019886antigen processing and presentation of exogenous peptide antigen via MHC class II TAS--

    KIF22 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    KIF22 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for KIF22

    1 Novoseek inferred chemical compound relationship for KIF22 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    atp 0 3 12183471 (2), 11416203 (1)

    Search CenterWatch for drugs/clinical trials and news about KIF22

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for KIF22 gene (3 alternative transcripts): 
    NM_001256269.1  NM_001256270.1  NM_007317.2  

    Unigene Cluster for KIF22:

    Kinesin family member 22
    Hs.612151  [show with all ESTs]
    Unigene Representative Sequence: AK294380
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000561482(uc010vdw.1) ENST00000160827(uc002dts.3 uc010vdv.1 uc002frc.1)
    ENST00000569636 ENST00000570173 ENST00000400751 ENST00000569382 ENST00000563666
    ENST00000563263 ENST00000565736 ENST00000568312 ENST00000400750
    miRNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KIF22
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KIF22

    Additional mRNA sequence: 

    AB017430.2 AK223431.1 AK294380.1 AK297893.1 AK312234.1 AK316050.1 AK316389.1 BC004352.1 
    BC028155.1 BT007259.1 L29095.1 L29096.1 

    23 DOTS entries:

    DT.102841926  DT.452666  DT.100885627  DT.92454235  DT.95372406  DT.95372443  DT.100885621  DT.449289 
    DT.100885623  DT.91995877  DT.100028753  DT.100885611  DT.95372402  DT.99978679  DT.100844822  DT.100885607 
    DT.100836941  DT.101976667  DT.100670010  DT.100885614  DT.120695373  DT.91699722  DT.99939962 

    24/442 AceView cDNA sequences (see all 442):

    BG338108 AJ346693 BG753191 CF242797 L29096 BQ228512 BM836537 BM546877 
    BM752484 BP353022 CA431062 BI907311 BE796704 BM478215 AA448374 BI910778 
    AA827325 CB130793 AW183156 BQ441104 BE270831 BG036829 BE264190 CR615781 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for KIF22 (see all 8)    About this scheme

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


    ECgene alternative splicing isoforms for KIF22

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    KIF22 expression in normal human tissues (normalized intensities)      KIF22 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGCGCCAAAA
    KIF22 Expression
    About this image


    KIF22 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Liver (Hepatobiliary System)
             Mesothelial Cells Hepatic Mesenchyme
     
     Adipose (Muscoskeletal System)
             Mesenchymal Stem Cells Subcutaneous White Adipose
     
     Thymus (Hematopoietic System)

    See KIF22 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KIF22

    SOURCE GeneReport for Unigene cluster: Hs.612151

    UniProtKB/Swiss-Prot: KIF22_HUMAN, Q14807
    Tissue specificity: Expressed in bone, cartilage, joint capsule, ligament, skin, and primary cultured chondrocytes

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIF22

    (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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for KIF22 gene from 8/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kif221 , 5 kinesin family member 221, 5 82.34(n)1
    82.65(a)1
      7 (69.29 cM)5
    1100331  NM_145588.11  NP_663563.11 
     1270277325 
    lizard
    (Anolis carolinensis)
    Reptilia KIF226
    Uncharacterized protein
    57(a)
    1 ↔ 1
    GL343279.1(58388-69811)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.5122 Xenopus laevis mRNA for kinesin (kid gene), clone 8-2B 76.1(n)    AJ249841.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1717241 zgc:171724 58.64(n)
    57.19(a)
      561788  NM_001113591.1  NP_001107063.1 
    worm
    (Caenorhabditis elegans)
    Secernentea klp-136
    Protein KLP-13, isoform b
    23(a)
    1 ↔ 1
    X(5984975-5992103)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes KIP36
    Kinesin-related motor protein involved in mitotic ...
    18(a)
    1 → many
    VII(84885-87302)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G023701 kinesin family member 22 44.8(n)
    34.4(a)
      831740  NM_120315.3  NP_195857.2 
    rice
    (Oryza sativa)
    Liliopsida Os05g04594001 hypothetical protein 45.87(n)
    37.25(a)
      4339007  NM_001062285.1  NP_001055750.1 


    ENSEMBL Gene Tree for KIF22 (if available)
    TreeFam Gene Tree for KIF22 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KIF22 gene
    KIF18A2  KIF2A2  KIF242  KIF2B2  KIF18B2  KIF2C2  KIF192  
    18/25 SIMAP similar genes for KIF22 using alignment to 6 protein entries:     KIF22_HUMAN (see all proteins) (see all similar genes):
    OBP-1    OBP-2    A-328A3.5    KIF27    KIF3A    KIF5A
    A20    KIF1A    KIF6    KIF9    R11    R12
    KIF21A    KIF5B    KIF5C    KIF5B-ALK_K17    KIF5B-RET(NM_020630)_K15    KIF5B-RET(NM_020630)_K16

    KIF22 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/323 SNPs in KIF22 are shown (see all 323)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0673474
    Spondyloepimetaphyseal dysplasia with joint laxity, 2 (SEMDJL2)4--see VAR_0673472 R L mis40--------
    VAR_0673494
    ----see VAR_0673492 R Q mis40--------
    rs1846251761,2
    --29800110(+) TCACCC/TGAGGT 2 -- us2k10--------
    rs1398625331,2
    --29800146(+) ACATGC/GAGAAA 2 -- us2k10--------
    rs1125075681,2
    C,F--29800189(+) TGCACG/AGTGGT 2 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs4252801,2
    C,H--29800530(+) ggtttG/TTTACT 3 -- us2k16Minor allele frequency- T:0.07NA WA CSA 15
    rs1507139481,2
    --29800627(+) TAATCA/CCAGCA 3 -- us2k10--------
    rs1819261321,2
    --29800973(+) TTTCAG/TAAACA 3 -- us2k10--------
    rs1857953371,2
    --29801306(+) TTGTTC/GAACAG 3 -- us2k10--------
    rs1390095161,2
    --29801344(+) CCTACA/CTACCT 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for KIF22 (29802040 - 29816706 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for KIF22:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv2667n71CNV Loss21882294
    dgv34n68CNV Loss17160897
    nsv833186CNV Loss17160897


    Human Gene Mutation Database (HGMD): KIF22
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing KIF22
    DNA2.0 Custom Variant and Variant Library Synthesis for KIF22

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603213    OMIM disorders: --

    UniProtKB/Swiss-Prot: KIF22_HUMAN, Q14807
  • Spondyloepimetaphyseal dysplasia with joint laxity, 2 (SEMDJL2) [MIM:603546]: A bone disease
    characterized by short stature, distinctive midface retrusion, progressive knee malalignment (genu valgum and/or
    varum), generalized ligamentous laxity, and mild spinal deformity. Intellectual development is not impaired.
    Radiographic characteristics include significantly retarded epiphyseal ossification that evolves into epiphyseal
    dysplasia and precocious osteoarthritis, metaphyseal irregularities and vertical striations, constricted femoral
    neck, slender metacarpals and metatarsals, and mild thoracolumbar kyphosis or scoliosis with normal or mild
    platyspondyly. The most distinctive features for differential diagnosis of SEMDJL2 are the slender metacarpals
    and phalanges and the progressive degeneration of carpal bones; however, these 2 features are evident only in
    older children and young adults. The soft consistency of cartilage in the airways leads to laryngotracheomalacia
    with proneness to respiratory obstruction and inspiratory stridor in infancy and childhood. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 12 diseases for KIF22:    About MalaCards
    spondyloepimetaphyseal dysplasia joint laxity    sponastrime dysplasia    bilateral breast cancer    filariasis
    herpes simplex    scoliosis    esophageal squamous cell carcinoma    short stature
    breast cancer    osteoarthritis    esophagitis    squamous cell carcinoma

    1 disease from the University of Copenhagen DISEASES database for KIF22:
    Spondyloepimetaphyseal dysplasia

    KIF22 for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for KIF22 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    herpes simplex 50.7 5 1321142 (1), 10681580 (1), 11416203 (1), 8207791 (1) (see all 5)
    breast cancer 13.2 23 16764773 (6), 17199993 (2)
    metastasis 0 21 16764773 (3), 17199993 (1)


    Export disorders for KIF22 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)
    About This Section

    PubMed articles for KIF22 gene, integrated from 9 sources (see all 66):
    (articles sorted by number of sources associating them with KIF22)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Kid, a novel kinesin-like DNA binding protein, is localized to chromosomes and the mitotic spindle. (PubMed id 8599929)1, 2, 3, 9 Tokai N.... Yamamoto T. (1996)
    2. Human genes for KNSL4 and MAZ are located close to one another on chromosome 16p11.2. (PubMed id 9790757)1, 2, 9 Song J.... Yokoyama K.K. (1998)
    3. SIAH-1 interacts with alpha-tubulin and degrades the kinesin Kid by the proteasome pathway during mitosis. (PubMed id 11146551)1, 2, 9 Germani A.... Calvo F. (2000)
    4. Recurrent dominant mutations affecting two adjacent r esidues in the motor domain of the monomeric kinesin KIF22 result in skeletal d ysplasia and joint laxity. (PubMed id 22152678)1, 2 Boyden E.D....BonafAc L. (2011)
    5. Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type. (PubMed id 22152677)1, 2 Min B.J....Cho T.J. (2011)
    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. (2004)
    7. All kinesin superfamily protein, KIF, genes in mouse and human. (PubMed id 11416179)1, 3 Miki H....Hirokawa N. (2001)
    8. Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q. (PubMed id 10493829)1, 2 Loftus B.J.... Adams M.D. (1999)
    9. The Xenopus chromokinesin Xkid is essential for metaphase chromosome alignment and must be degraded to allow anaphase chromosome movement. (PubMed id 10966104)1, 9 Funabiki H. and Murray A.W. (2000)
    10. Distinct expression patterns of the E3 ligase SIAH-1 and its partner Kid/KIF22 in normal tissues and in the breast tumoral processes . (PubMed id 20144232)1, 9 Bruzzoni-Giovanelli H....MarA-n M. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 3835 HGNC: 6391 AceView: KIF22 Ensembl:ENSG00000079616 euGenes: HUgn3835
    ECgene: KIF22 H-InvDB: KIF22

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for KIF22 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for KIF22 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for KIF22 gene:
    Search GeneIP for patents involving KIF22

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



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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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