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

KIF22 Gene

protein-coding   GIFtS: 62
GCID: GC16P029802

kinesin family member 22

(Previous name: kinesin-like 4 )
(Previous symbol: KNSL4)
 Explore 13 diseases affiliated with
KIF22 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for KIF22    

Aliases
for KIF22 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Kinesin Family Member 221 2     Kinesin-Like 41
KNSL41 2 3 5     A-328A3.22
KID2 3 5     SEMDJL22
OBP-11 2     Kinesin-Like DNA-Binding Protein Pseudogene2
OBP-21 2     Kinesin-Like Protein KIF222
Kinesin-Like Protein 42 3     Origin Of Plasmid DNA Replication-Binding Protein2
OBP2 5     OriP Binding Protein2
Kid1     Kinesin-Like DNA-Binding Protein3

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


Summaries
for KIF22 gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.1  NT_010393.16  
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

Proteins
for KIF22 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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 O60845 O94814 Q53F58 Q9BT46

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

Post-translational modifications:

  • Ubiquitinated; mediated by SIAH1 and leading to its subsequent proteasomal degradation (Probable)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q14807

    • KIF22 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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: 
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    OriGene Protein Over-expression Lysate: KIF22
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    Novus Biologicals KIF22 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for KIF22

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    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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    Assay Products for KIF22: 
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    Uscn ELISAs and CLIAs for KIF22

    Protein Domains /
    Families
    for KIF22 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    KIF22 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR026986 KIF22
     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 families:
    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


    Function
    for KIF22 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

    miRNA
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    hsa-mir-146a (MIRT005706)

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    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for KIF22 (see all 7)
    OriGene shRNA RFP: KIF22
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    Gene Editing
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    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KIF22 

    Cell Line
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    Search LifeMap BioReagents cell lines for KIF22

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

    Gene Ontology (GO): 3 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--


    KIF22 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Kif22tm1.1Tya for KIF22
         4 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Kif22):
     cellular  embryogenesis  mortality/aging  no phenotypic analysis 

    KIF22 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for KIF22 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Cell cycle_Spindle assembly and chromosome separation
    		Cell cycle_Spindle assembly and chromosome separation1.00
    		Cell cycle Spindle assembly and chromosome separation0.94
    2Immune System
    		Immune System1.00
    		Adaptive Immune System0.59
    3Kinesins
    		Kinesins1.00
    		Kinesins move along microtubules consuming ATP0.95
    4Cell cycle Role of APC in cell cycle regulation
    		Cell cycle Role of APC in cell cycle regulation1.00
    		Cell cycle_Role of APC in cell cycle regulation0.98
    5MHC class II antigen presentation
    		MHC class II antigen presentation1.00
    		Transport of antigen loaded MHC II molecules to surface0.59

    Pathway sources
    See GeneCards unified pathways
    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

    5/8        Reactome Pathways for KIF22 (see all 8)
        Hemostasis
    Adaptive Immune System
    Transport of antigen loaded MHC II molecules to surface
    Kinesins move along microtubules consuming ATP
    Factors involved in megakaryocyte development and platelet production



    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



    Drugs & Compounds
    for KIF22 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 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 

    Transcripts
    for KIF22 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, 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
    Products:             		 OriGene 3'-UTR Clone: KIF22
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KIF22
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    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for KIF22 (see all 7)
    OriGene shRNA RFP: KIF22
    OriGene siRNA: KIF22
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KIF22
    Clone
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    Primer
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    Additional cDNA 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.95372406  DT.95372443  DT.100885621  DT.92454235  DT.100885623 
    DT.449289  DT.91995877  DT.100028753  DT.100885611  DT.95372402  DT.99978679  DT.100844822  DT.100885607 
    DT.100836941  DT.101976667  DT.100670010  DT.100885614  DT.91699722  DT.99939962  DT.120695373 

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

    BI835505 AA448374 BQ063696 CB139640 BM546877 BM751150 BM806996 CF242797 
    BQ051730 BI255082 AL557658 BI915023 BM752484 BG753191 BQ009342 CR615759 
    BQ441104 CR590954 BF314726 BE264190 BF925748 CR592785 BM450828 BI255953 

    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

    Expression
    for KIF22 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGCGCCAAAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    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
    Assay Products:     
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    Orthologs
    for KIF22 gene

    (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 6/24 species (see all 24)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    lizard
    (Anolis carolinensis)    		 Reptilia KIF226
    		 --
    		 54(a)
    		 1 ↔ 1
    		 GL343279.1(58451-69811)
    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-176
    klp-156
    (see all 3)    		 Kinesin-Like Protein family member (klp-15)
    (see all 3)    		 21(a)
    17(a)
    (see all 3)    		 possible ortholog
    possible ortholog
    (see all 3)    		 II(11465875-11467577)
    I(5577058-5579302)
    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
    for KIF22 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KIF22 gene
    KIF18A2  KIF1C2  KIF16B2  KIF1B2  KIF192  KIF142  KIF13B2  KIF13A2  
    KIF1A2  KIF122  KIF18B2  
    12 SIMAP similar genes for KIF22 using alignment to 7 protein entries:     KIF22_HUMAN (see all proteins):
    OBP-1    OBP-2    A-328A3.5    KIF27    KIF3A    KIF5A
    KIF1A    KIF6    KIF9    KIF21A    KIF5B    KIF5C

    KIF22 for paralogs           About GeneDecksing



    Genomic Variants
    for KIF22 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/264 NCBI SNPs in KIF22 are shown (see all 264)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 16 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1846251761,2
    		--29800110(+) TCACCC/TGAGGT 2 -- us2k10--------
    rs1398625331,2
    		--29800146(+) ACATGC/GAGAAA 2 -- us2k10--------
    rs1125075681,2
    		--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--------
    rs1499620231,2
    		--29801361(+) CAAAAA/GTGGAA 3 -- us2k10--------
    rs129189221,2
    		C,F,--29801385(+) CCAACC/ACTTCA 3 -- us2k12Minor allele frequency- A:0.50NA 4

    HapMap Linkage Disequilibrium report for KIF22 (29802040 - 29816706 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for KIF22
         2 CNVs: 4939 35383
    Human Gene Mutation Database (HGMD): KIF22

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KIF22
    DNA2.0 Custom Variant and Variant Library Synthesis for KIF22

    Disorders / Diseases
    for KIF22 gene

    (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.)
    About This Section
    KIF22 for disorders           About GeneDecksing

    OMIM gene information: 603213    OMIM disorders: --

    UniProtKB/Swiss-Prot: KIF22_HUMAN, Q14807
  • Defects in KIF22 are the cause of spondyloepimetaphyseal dysplasia with joint laxity, type 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

    13 diseases for KIF22:    About MalaCards
    spondyloepimetaphyseal dysplasia joint laxity    sponastrime dysplasia    herpes simplex    bilateral breast cancer
    esophageal squamous cell carcinoma    squamous cell carcinoma    filariasis    breast cancer
    esophagitis    carcinoma    immunodeficiency    malaria
    epiphyseal dysplasia

    2 diseases from the University of Copenhagen DISEASES database for KIF22:
    Sponastrime dysplasia     Spondyloepimetaphyseal dysplasia

    3 Novoseek 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

    Publications
    for KIF22 gene

    (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 62):
    (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. 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)
    5. 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)
    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)

    External Searches for KIF22 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    Genome Databases showing KIF22 gene

    (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

    Other Databases showing KIF22 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing KIF22 gene

    (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

    Intellectual Property
    for KIF22 gene

    (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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