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KLHL22 Gene

protein-coding   GIFtS: 49
GCID: GC22M020783

Kelch-Like Family Member 22

(Previous name: kelch-like 22 (Drosophila))
  Search for KLHL22
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
Kelch-Like Family Member 221 2
Kelch-Like 22 (Drosophila)1
KELCHL2
Kelch-Like 222
Kelch-Like Protein 222

External Ids:    HGNC: 258881   Entrez Gene: 848612   Ensembl: ENSG000000999107   UniProtKB: Q53GT13   

Export aliases for KLHL22 gene to outside databases

Previous GC identifers: GC22M019122 GC22M004059


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for KLHL22 Gene:
KLHL22 (kelch-like family member 22) is a protein-coding gene. An important paralog of this gene is KLHL42.

UniProtKB/Swiss-Prot: KLH22_HUMAN, Q53GT1
Function: Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex required for chromosome
alignment and localization of PLK1 at kinetochores. The BCR(KLHL22) ubiquitin ligase complex mediates
monoubiquitination of PLK1, leading to PLK1 dissociation from phosphoreceptor proteins and subsequent removal
from kinetochores, allowing silencing of the spindle assembly checkpoint (SAC) and chromosome segregation.
Monoubiquitination of PLK1 does not lead to PLK1 degradation




(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_000022.11  NT_011520.13  NC_018933.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the KLHL22 gene promoter:
         SRF   SRF (504 AA)   Lmo2   Ik-3   POU2F1   NRF-2   FOXO4   POU2F1a   STAT3   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for KLHL22

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KLHL22


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

Entrez Gene cytogenetic band: 22q11.21   Ensembl cytogenetic band:  22q11.21   HGNC cytogenetic band: 22q11.21

KLHL22 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KLHL22 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M020783:  view genomic region     (about GC identifiers)

Start:
20,783,528 bp from pter      End:
20,850,170 bp from pter
Size:
66,643 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: KLH22_HUMAN, Q53GT1 (See protein sequence)
Recommended Name: Kelch-like protein 22  
Size: 634 amino acids; 71667 Da
Subunit: Component of the BCR(KLHL22) E3 ubiquitin ligase complex, at least composed of CUL3, KLHL22 and RBX1.
Interacts with PLK1
Sequence caution: Sequence=BAB55007.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing;
Secondary accessions: A8K3Q4 A8MTV3 D3DX30 Q96B68 Q96KC6

Explore the universe of human proteins at neXtProt for KLHL22: NX_Q53GT1

Explore proteomics data for KLHL22 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys12, Lys329, Lys433
  • Modification sites at PhosphoSitePlus

  • See KLHL22 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_116164.2  
    ENSEMBL proteins: 
     ENSP00000392268   ENSP00000331682   ENSP00000400095   ENSP00000403999   ENSP00000398616  
     ENSP00000397882   ENSP00000409092   ENSP00000402746   ENSP00000405521  

    KLHL22 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for KLHL22
    OriGene Protein Over-expression Lysate for KLHL22
    OriGene MassSpec for KLHL22
    OriGene Custom Protein Services for KLHL22
    GenScript Custom Purified and Recombinant Proteins Services for KLHL22
    Novus Biologicals KLHL22 Protein
    Novus Biologicals KLHL22 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for KLHL22

    KLHL22 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for KLHL22
    Novus Biologicals KLHL22 Antibodies
    Abcam antibodies for KLHL22
    Cloud-Clone Corp. Antibodies for KLHL22
    ThermoFisher Antibodies for KLHL22
    LSBio Antibodies in human, mouse, rat for KLHL22

    KLHL22 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for KLHL22
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for KLHL22
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for KLHL22
    Cloud-Clone Corp. CLIAs for KLHL22


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    BTBD: BTB/POZ domain containing
    KLHL: Kelch-like

    Selected InterPro protein domains (see all 7):
     IPR006652 Kelch_1
     IPR011333 BTB/POZ_fold
     IPR017096 Kelch-like_gigaxonin-typ
     IPR013069 BTB_POZ
     IPR011705 BACK

    Graphical View of Domain Structure for InterPro Entry Q53GT1

    ProtoNet protein and cluster: Q53GT1

    2 Blocks protein domains:
    IPB000210 BTB/POZ domain
    IPB011705 BTB/Kelch-associated


    UniProtKB/Swiss-Prot: KLH22_HUMAN, Q53GT1
    Similarity: Contains 1 BTB (POZ) domain
    Similarity: Contains 6 Kelch repeats


    KLHL22 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: KLH22_HUMAN, Q53GT1
    Function: Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex required for chromosome
    alignment and localization of PLK1 at kinetochores. The BCR(KLHL22) ubiquitin ligase complex mediates
    monoubiquitination of PLK1, leading to PLK1 dissociation from phosphoreceptor proteins and subsequent removal
    from kinetochores, allowing silencing of the spindle assembly checkpoint (SAC) and chromosome segregation.
    Monoubiquitination of PLK1 does not lead to PLK1 degradation

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
         
    KLHL22 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for KLHL22:
     Decreased viability with pacli 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KLHL22
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for KLHL22

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KLHL22
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for KLHL22

    miRNA
    Products:
        
    miRTarBase miRNAs that target KLHL22:
    hsa-mir-615-3p (MIRT039836), hsa-mir-193b-3p (MIRT041412)

    Block miRNA regulation of human, mouse, rat KLHL22 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate KLHL22 (see all 9):
    hsa-miR-20a hsa-miR-519d hsa-miR-106a hsa-miR-106b hsa-miR-93 hsa-miR-205* hsa-miR-20b hsa-miR-17
    SwitchGear 3'UTR luciferase reporter plasmidKLHL22 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for KLHL22
    Predesigned siRNA for gene silencing in human, mouse, rat KLHL22

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for KLHL22

    Clone
    Products:
         
    OriGene clones in human, mouse for KLHL22 (see all 6)
    OriGene ORF clones in mouse, rat for KLHL22
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: KLHL22 (NM_032775)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KLHL22
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KLHL22

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for KLHL22
    Browse ESI BIO Cell Lines and PureStem Progenitors for KLHL22 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KLHL22


    (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
    KLH22_HUMAN, Q53GT1: Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm,
    cytoskeleton, spindle. Note=Mainly. cytoplasmic in prophase and prometaphase. Associates with the mitotic spindle
    as the cells reach chromosome bi-orientation. Localizes to the centrosomes shortly before cells enter anaphase
    After anaphase onset, predominantly associates with the polar microtubules connecting the 2 opposing centrosomes
    and gradually diffuses into the cytoplasm during telophase
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol2
    nucleus2
    mitochondrion1
    peroxisome1
    plasma membrane1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005813centrosome IDA--
    GO:0005827polar microtubule IDA--
    GO:0031463Cul3-RING ubiquitin ligase complex IDA19995937
    GO:0072686mitotic spindle IDA--

    KLHL22 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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    UniProtKB/Swiss-Prot: KLH22_HUMAN, Q53GT1
    Pathway: Protein modification; protein ubiquitination

        Pathway & Disease-focused RT2 Profiler PCR Array including KLHL22: 

              Ubiquitin Ligases in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for KLHL22

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

    Selected Interacting proteins for KLHL22 (Q53GT13 ENSP000003316824) via UniProtKB, MINT, STRING, and/or I2D (see all 19)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COPS5Q929053, ENSP000003505124I2D: score=2 STRING: ENSP00000350512
    FAF1Q9UNN53, ENSP000003794574I2D: score=2 STRING: ENSP00000379457
    KLHL13Q9P2N73, ENSP000002628204I2D: score=2 STRING: ENSP00000262820
    UBXN1Q043233, ENSP000002941194I2D: score=2 STRING: ENSP00000294119
    UBXN7O948883, ENSP000002963284I2D: score=2 STRING: ENSP00000296328
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000070mitotic sister chromatid segregation IMP--
    GO:0006513protein monoubiquitination IDA--
    GO:0007094mitotic spindle assembly checkpoint IMP--
    GO:0051301cell division IMP19995937

    KLHL22 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 KLHL22 (KLH22)



    (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 KLHL22 gene: 
    NM_032775.3  

    Unigene Cluster for KLHL22:

    Kelch-like family member 22
    Hs.517419  [show with all ESTs]
    Unigene Representative Sequence: AK024369
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000429594 ENST00000328879(uc002zsl.2 uc011ahr.2) ENST00000487090
    ENST00000479601 ENST00000451553 ENST00000444967 ENST00000458248 ENST00000443285
    ENST00000494929 ENST00000431430 ENST00000470335 ENST00000490556 ENST00000423364
    ENST00000440659
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat KLHL22 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate KLHL22 (see all 9):
    hsa-miR-20a hsa-miR-519d hsa-miR-106a hsa-miR-106b hsa-miR-93 hsa-miR-205* hsa-miR-20b hsa-miR-17
    SwitchGear 3'UTR luciferase reporter plasmidKLHL22 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for KLHL22
    Predesigned siRNA for gene silencing in human, mouse, rat KLHL22
    Clone
    Products:
         
    OriGene clones in human, mouse for KLHL22 (see all 6)
    OriGene ORF clones in mouse, rat for KLHL22
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: KLHL22 (NM_032775)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KLHL22
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KLHL22
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for KLHL22
    OriGene qSTAR qPCR primer pairs in human, mouse for KLHL22
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat KLHL22
      QuantiTect SYBR Green Assays in human, mouse, rat KLHL22
      QuantiFast Probe-based Assays in human, mouse, rat KLHL22

    Additional mRNA sequence: 

    AK024369.1 AK027266.1 AK222850.1 AK290669.1 AK294682.1 BC015923.1 CR456352.1 NR_033825.1 

    23 DOTS entries:

    DT.101977829  DT.100785509  DT.95112966  DT.110787  DT.75103855  DT.100794476  DT.100794478  DT.100785508 
    DT.97823228  DT.100844204  DT.120668491  DT.91653402  DT.101963487  DT.91779995  DT.100721512  DT.100794475 
    DT.100844616  DT.120668053  DT.92422114  DT.100000235  DT.75190219  DT.91918844  DT.92009127 

    Selected AceView cDNA sequences (see all 354):

    AI197899 AI701297 CB269702 AW249671 AI084861 AI127800 AI921953 CR610643 
    BM271898 BG105986 BM663549 AA350442 AI860241 AU119574 AU280068 BM663110 
    BM838256 AI910845 BM768496 BP363504 NM_153334 CR601347 AI365375 BM264532 

    GeneLoc Exon Structure


    (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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    KLHL22 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGTTGGTCA
    KLHL22 Expression
    About this image

    KLHL22 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KLHL22 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.517419
        Pathway & Disease-focused RT2 Profiler PCR Array including KLHL22: 
              Ubiquitin Ligases in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for KLHL22
    OriGene qSTAR qPCR primer pairs in human, mouse for KLHL22
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat KLHL22
    QuantiTect SYBR Green Assays in human, mouse, rat KLHL22
    QuantiFast Probe-based Assays in human, mouse, rat KLHL22
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KLHL22

    (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 KLHL22 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Klhl221 , 5 kelch-like 22 (Drosophila)5
    kelch-like 221
    87.28(n)1
    94.64(a)1
      16 (11.01 cM)5
    2240231  NM_145479.41  NP_663454.31 
     177596185 
    chicken
    (Gallus gallus)
    Aves KLHL221 kelch-like 22 (Drosophila) 72.4(n)
    78.55(a)
      416940  XM_415234.4  XP_415234.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    65(a)
    58(a)
    1 ↔ many
    1 ↔ many
    GL343376.1(900257-913096)
    GL343538.1(116389-131026)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia klhl221 kelch-like family member 22 66.61(n)
    69.56(a)
      780372  NM_001079442.1  NP_001072910.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003337141 kelch-like 13-like 62.66(n)
    61.35(a)
      100333714  XM_003199151.2  XP_003199199.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG18121 CG1812 45.62(n)
    30.12(a)
      33049  NM_134553.2  NP_608397.1 


    ENSEMBL Gene Tree for KLHL22 (if available)
    TreeFam Gene Tree for KLHL22 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KLHL22 gene
    KLHL422  KLHL132  KLHL262  KLHL342  KLHL312  KBTBD132  KBTBD112  KLHL322  
    KLHL92  KLHL142  KLHL152  KLHL362  KLHDC7B2  KLHL332  KLHDC7A2  
    Selected SIMAP similar genes for KLHL22 using alignment to 9 protein entries:     KLH22_HUMAN (see all proteins) (see all similar genes):
    ZBTB7C    KLHL26    IVNS1ABP    KLHL32    KLHL1    KLHL36
    ZBTB21    ZBTB44    KLHL3    FLJ00127    KBTBD8    BTBD3
    KLHL28    DKFZp686L0695    KLHL9    KLHL15    MYNN    BACH2

    KLHL22 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 KLHL22 (see all 1187)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1882625601,2
    --20795315(+) GGTGCC/GTAAGG 2 -- int1 ds50010--------
    rs738793731,2
    C,F--20795322(+) AAGGGT/CTACCT 2 -- ds5001 int12Minor allele frequency- C:0.04WA 120
    rs1820367421,2
    --20795418(+) CCCCCA/CCACCG 2 -- ds5001 int10--------
    rs605748401,2
    C--20795420(+) CCCCCA/GCCGAC 2 -- ds5001 int13Minor allele frequency- G:0.41NA EA 242
    rs1863762781,2
    --20795441(+) TGCCCC/TGCTCC 2 -- int1 ds50010--------
    rs622190321,2
    C,F--20795454(+) GGTGCT/CGAAGC 2 -- ds5001 int13Minor allele frequency- C:0.20NA WA 240
    rs1490449731,2
    --20795733(+) CTGACA/CCCAGA 2 -- ds5001 int10--------
    rs11534271,2
    C,F,A,H--20795757(+) GGGGAC/TGCAGC 2 -- ds5001 int128Minor allele frequency- A:0.01EA NA NS WA CSA 3576
    rs1145668761,2
    C,F--20795858(+) ATGGGG/TTCTGA 2 -- ut31 nc-transcript-variant1Minor allele frequency- T:0.03WA 118
    rs22872561,2
    C,F--20795926(+) CTCTGC/TTCCTC 2 -- ut31 nc-transcript-variant1Minor allele frequency- T:0.05EA 120

    HapMap Linkage Disequilibrium report for KLHL22 (20783528 - 20850170 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for KLHL22 (see all 16):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv509810CNV Insertion20534489
    nsv3561CNV Insertion18451855
    nsv436864CNV Insertion17901297
    nsv509809CNV Insertion20534489
    nsv436867CNV Insertion17901297
    dgv4868n71CNV Loss21882294
    nsv834138CNV Loss17160897
    nsv523162CNV Loss19592680
    nsv914400CNV Loss21882294
    nsv834136CNV Loss17160897

    Site Specific Mutation Identification with PCR Assays
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    (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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    KLHL22 for disorders           About GeneDecksing

    Genetic Association Database (GAD): KLHL22
    Human Genome Epidemiology (HuGE) Navigator: KLHL22 (1 document)

    Export disorders for KLHL22 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 KLHL22 gene, integrated from 10 sources (see all 27):
    (articles sorted by number of sources associating them with KLHL22)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Ubiquitylation-dependent localization of PLK1 in mitosis. (PubMed id 23455478)1, 2 Beck J.... Sumara I. (Nat. Cell Biol. 2013)
    2. The Cul3-KLHL21 E3 ubiquitin ligase targets aurora B to midzone microtubules in anaphase and is required for cytokinesis. (PubMed id 19995937)1, 2 Maerki S.... Peter M. (J. Cell Biol. 2009)
    3. 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)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (Genome Biol. 2004)
    6. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    7. Genome-wide association study of retinopathy in individuals without diabetes. (PubMed id 23393555)1 Jensen R.A....Wong T.Y. (PLoS ONE 2013)
    8. Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (Nat. Methods 2013)
    9. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    10. CUL3 and protein kinases: Insights from PLK1/KLHL22 interaction. (PubMed id 23797583)1 Metzger T....Sumara I. (Cell Cycle 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
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      Query String
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    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: 84861 HGNC: 25888 AceView: SCARF2andKELCHL Ensembl:ENSG00000099910 euGenes: HUgn84861
    ECgene: KLHL22 H-InvDB: KLHL22

    (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 KLHL22 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 KLHL22 gene:
    Search GeneIP for patents involving KLHL22

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



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