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KLHL20 Gene

protein-coding   GIFtS: 52
GCID: GC01P173684

Kelch-Like Family Member 20

(Previous name: kelch-like 20 (Drosophila))
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(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 201 2     KLHLX2
Kelch-Like ECT2-Interacting Protein2 3     Kelch Motif Containing Protein2
Kelch-Like Protein X2 3     Kelch-Like 202
KLEIP2 3     Kelch-Like ECT2 Interacting Protein2
Kelch-Like 20 (Drosophila)1     Kelch-Like Protein 202
KHLHX2     

External Ids:    HGNC: 250561   Entrez Gene: 272522   Ensembl: ENSG000000763217   UniProtKB: Q9Y2M53   

Export aliases for KLHL20 gene to outside databases

Previous GC identifers: GC01P170416 GC01P171950 GC01P144908


(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 KLHL20 Gene:
The protein encoded by this gene is a member of the kelch family of proteins, which is characterized by a 44-56
amino acid repeat motif. The kelch motif appears in many different polypeptide contexts and contains multiple
potential protein-protein contact sites. Members of this family are present both throughout the cell and
extracellularly, with diverse activities. (provided by RefSeq, Jul 2008)

GeneCards Summary for KLHL20 Gene:
KLHL20 (kelch-like family member 20) is a protein-coding gene. GO annotations related to this gene include actin binding and interferon-gamma binding. An important paralog of this gene is KLHL17.

UniProtKB/Swiss-Prot: KLH20_HUMAN, Q9Y2M5
Function: Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex involved in
interferon response. The BCR(KLHL20) E3 ubiquitin ligase complex mediates the ubiquitination of DAPK1, leading to
its degradation by the proteasome, thereby acting as a negative regulator of apoptosis. Also acts as a regulator
of endothelial migration during angiogenesis by controlling the activation of Rho GTPases

Gene Wiki entry for KLHL20 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NT_004487.20  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the KLHL20 gene promoter:
         Elk-1   NF-1   FOXO3   CUTL1   c-Ets-1   GATA-1   AREB6   FOXO4   FOXO3a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKLHL20 promoter sequence
   Search Chromatin IP Primers for KLHL20

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KLHL20


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

Entrez Gene cytogenetic band: 1q25.1   Ensembl cytogenetic band:  1q25.1   HGNC cytogenetic band: 1q25.1

KLHL20 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KLHL20 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P173684:  view genomic region     (about GC identifiers)

Start:
173,684,080 bp from pter      End:
173,755,840 bp from pter
Size:
71,761 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: KLH20_HUMAN, Q9Y2M5 (See protein sequence)
Recommended Name: Kelch-like protein 20  
Size: 609 amino acids; 67955 Da
Subunit: Component of the BCR(KLHL20) E3 ubiquitin ligase complex, at least composed of CUL3, KLHL20 and RBX1.
Interacts with DAPK1. Interacts with F-actin. Interacts with IFN-gamma (IFNG)
Secondary accessions: B3KMA0 Q5TZF2 Q5ZF45 Q9H457

Explore the universe of human proteins at neXtProt for KLHL20: NX_Q9Y2M5

Explore proteomics data for KLHL20 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys265
  • Modification sites at PhosphoSitePlus

  • See KLHL20 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_055273.2  
    ENSEMBL proteins: 
     ENSP00000209884   ENSP00000443121  
    Reactome Protein details: Q9Y2M5

    KLHL20 Human Recombinant Protein Products:

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    Novus Biologicals KLHL20 Protein
    Novus Biologicals KLHL20 Lysate
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for KLHL20

     
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    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
     IPR015916 Gal_Oxidase_b-propeller
     IPR013069 BTB_POZ

    Graphical View of Domain Structure for InterPro Entry Q9Y2M5

    ProtoNet protein and cluster: Q9Y2M5

    3 Blocks protein domains:
    IPB000210 BTB/POZ domain
    IPB011498 Kelch
    IPB011705 BTB/Kelch-associated


    UniProtKB/Swiss-Prot: KLH20_HUMAN, Q9Y2M5
    Similarity: Contains 1 BACK (BTB/Kelch associated) domain
    Similarity: Contains 1 BTB (POZ) domain
    Similarity: Contains 6 Kelch repeats


    Find genes that share domains with KLHL20           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KLH20_HUMAN, Q9Y2M5
    Function: Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex involved in
    interferon response. The BCR(KLHL20) E3 ubiquitin ligase complex mediates the ubiquitination of DAPK1, leading to
    its degradation by the proteasome, thereby acting as a negative regulator of apoptosis. Also acts as a regulator
    of endothelial migration during angiogenesis by controlling the activation of Rho GTPases

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0004842ubiquitin-protein ligase activity IDA--
    GO:0005515protein binding IPI--
    GO:0019964interferon-gamma binding IDA--
         
    Find genes that share ontologies with KLHL20           About GenesLikeMe


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Klhl20):
     cardiovascular system  homeostasis/metabolism  mortality/aging  vision/eye 

    Find genes that share phenotypes with KLHL20           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KLHL20
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for KLHL20

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KLHL20
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for KLHL20

    miRNA
    Products:
        
    miRTarBase miRNAs that target KLHL20:
    hsa-mir-200a-3p (MIRT020343), hsa-mir-200b-3p (MIRT024121), hsa-mir-141-3p (MIRT021655), hsa-mir-200c-3p (MIRT021066), hsa-mir-429 (MIRT016632)

    Block miRNA regulation of human, mouse, rat KLHL20 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate KLHL20 (see all 41):
    hsa-miR-3678-3p hsa-miR-4307 hsa-miR-3146 hsa-miR-106a hsa-miR-30d hsa-miR-301a hsa-miR-519a hsa-miR-1304
    SwitchGear 3'UTR luciferase reporter plasmidKLHL20 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat KLHL20

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: KLHL20 (NM_014458)
    Browse Sino Biological Human cDNA Clones
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KLHL20


    (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
    KLH20_HUMAN, Q9Y2M5: Cytoplasm, perinuclear region. Nucleus. Note=Localizes in the perinuclear region in normal
    conditions. Following IFN-alpha or IFN-gamma treatment, it is relocalized and sequestrated to the PML nuclear
    bodies, preventing DAPK1 ubiquitination
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytoskeleton4
    golgi apparatus4
    cytosol3

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005737cytoplasm IDA--
    GO:0005794Golgi apparatus IDA--
    GO:0015629actin cytoskeleton TAS10888605
    GO:0016605PML body IDA--

    Find genes that share ontologies with KLHL20           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for KLHL20 About    
    See pathways by source

    SuperPathContained pathways About
    1Class I MHC mediated antigen processing and presentation
    Class I MHC mediated antigen processing and presentation0.84
    Adaptive Immune System0.41
    Antigen processing- Ubiquitination and Proteasome degradation0.84
    2E-cadherin signaling in the nascent adherens junction
    E-cadherin signaling in the nascent adherens junction


    Find genes that share SuperPaths with KLHL20           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for KLHL20
        E-cadherin signaling in the nascent adherens junction

    1 Reactome Pathway for KLHL20
        Antigen processing: Ubiquitination & Proteasome degradation


    UniProtKB/Swiss-Prot: KLH20_HUMAN, Q9Y2M5
    Pathway: Protein modification; protein ubiquitination

        Pathway & Disease-focused RT2 Profiler PCR Array including KLHL20: 

              Ubiquitin Ligases in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for KLHL20

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    Selected Interacting proteins for KLHL20 (Q9Y2M51, 3 ENSP000002098844) via UniProtKB, MINT, STRING, and/or I2D (see all 32)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CUL3Q136181, 3, ENSP000002644144EBI-7904035,EBI-456129 I2D: score=2 STRING: ENSP00000264414
    PMLP295901, 3, ENSP000002680584EBI-714379,EBI-295890 I2D: score=2 STRING: ENSP00000268058
    DAPK1P533551, 3, ENSP000003507854EBI-7904035,EBI-358616 I2D: score=2 STRING: ENSP00000350785
    C7orf55-LUC7L2Q9Y3833I2D: score=4 
    LUC7L2Q9Y3833I2D: score=4 
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007010cytoskeleton organization TAS10888605
    GO:0016567protein ubiquitination IDA--
    GO:0035455response to interferon-alpha TAS--
    GO:0043066negative regulation of apoptotic process IMP--
    GO:0043161proteasome-mediated ubiquitin-dependent protein catabolic process IDA--

    Find genes that share ontologies with KLHL20           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for KLHL20 (KLH20)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for KLHL20 gene: 
    NM_014458.3  

    Unigene Cluster for KLHL20:

    Kelch-like family member 20
    Hs.495035  [show with all ESTs]
    Unigene Representative Sequence: NM_014458
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000479505 ENST00000209884(uc001gjc.3 uc010pmr.2 uc009wwf.3)
    ENST00000483154 ENST00000493170(uc001gjd.3) ENST00000488983 ENST00000546011

    miRNA
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    Block miRNA regulation of human, mouse, rat KLHL20 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate KLHL20 (see all 41):
    hsa-miR-3678-3p hsa-miR-4307 hsa-miR-3146 hsa-miR-106a hsa-miR-30d hsa-miR-301a hsa-miR-519a hsa-miR-1304
    SwitchGear 3'UTR luciferase reporter plasmidKLHL20 3' UTR sequence
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    Clone
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    GenScript: all cDNA clones in your preferred vector: KLHL20 (NM_014458)
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    Primer
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    OriGene qPCR primer pairs and template standards for KLHL20
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat KLHL20
      QuantiTect SYBR Green Assays in human, mouse, rat KLHL20
      QuantiFast Probe-based Assays in human, mouse, rat KLHL20

    Additional mRNA sequence: 

    AB026190.1 AJ844466.1 AK001430.1 AK300755.1 AK308048.1 BC005253.1 BC063418.1 

    9 DOTS entries:

    DT.95289366  DT.40131446  DT.100718206  DT.309511  DT.40121082  DT.75111600  DT.95157784  DT.95244329 
    DT.121408851 

    Selected AceView cDNA sequences (see all 108):

    AL527651 CB130282 CD557577 BI520238 BU154732 BG034013 AA486649 BQ932424 
    AI125291 AL705347 AA486552 BF058391 BE677177 NM_014458 AI091087 BE973704 
    BC063418 AI523210 AI927627 BQ428453 CF528625 BX641731 AI453173 AA431612 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for KLHL20    About this scheme

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


    ECgene alternative splicing isoforms for KLHL20

    (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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    KLHL20 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATAACTTTT
    KLHL20 Expression
    About this image

    KLHL20 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KLHL20 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.495035
        Pathway & Disease-focused RT2 Profiler PCR Array including KLHL20: 
              Ubiquitin Ligases in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for KLHL20
    OriGene qSTAR qPCR primer pairs in human, mouse for KLHL20
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat KLHL20
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    QuantiFast Probe-based Assays in human, mouse, rat KLHL20
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KLHL20

    (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 KLHL20 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Klhl201 , 5 kelch-like 20 (Drosophila)5
    kelch-like 201
    92.44(n)1
    100(a)1
      1 (69.75 cM)5
    2265411  NM_001039482.11  NP_001034571.11 
     1610883755 
    chicken
    (Gallus gallus)
    Aves KLHL201 kelch-like 20 (Drosophila) 82.65(n)
    99.01(a)
      425091  NM_001031329.1  NP_001026500.1 
    lizard
    (Anolis carolinensis)
    Reptilia KLHL206
    kelch-like family member 20
    99(a)
    1 ↔ 1
    4(71309331-71337011)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.114272 Transcribed sequence with strong similarity to protein more 83.83(n)    137727720 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc33f092 Danio rerio cDNA clone MGC66288 IMAGE5412607, complete more 78.64(n)    BC057505.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta dbo1 diablo 66.78(n)
    80.94(a)
      53556  NM_001274963.1  NP_001261892.1 
    worm
    (Caenorhabditis elegans)
    Secernentea R12E2.11 R12E2.1 59.01(n)
    60.87(a)
      172012  NM_058921.4  NP_491322.2 


    ENSEMBL Gene Tree for KLHL20 (if available)
    TreeFam Gene Tree for KLHL20 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KLHL20 gene
    KLHL172  KLHL182  KLHL52  KLHL122  KEAP12  KLHL282  KLHL42  KLHL32  
    KLHL102  KLHL12  KLHL82  KLHL22  
    Selected SIMAP similar genes for KLHL20 using alignment to 3 protein entries:     KLH20_HUMAN (see all proteins) (see all similar genes):
    KLHL17    KLHL1    KLHL5    KLHL3    KLHL30    KLHL4
    KLHL8    KLHL12    KLHL2    DKFZp686H07112    DKFZp686P15123    KLHL18
    KLHL28    DKFZp761P1717    DKFZp781C1855    KBTBD8    KLHL23    ENC1

    Find genes that share paralogs with KLHL20           About GenesLikeMe



    (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 KLHL20 (see all 1256)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1929289611,2
    --173682197(+) GTTGCA/CAAAGA 1 -- us2k10--------
    rs1847675971,2
    --173682364(+) GTATCC/TGTGAA 1 -- us2k10--------
    rs75500361,2
    C,F,A,H--173682365(+) TATCCG/ATGAAA 1 -- us2k121Minor allele frequency- A:0.25NS EA NA WA CSA 1921
    rs1408898131,2
    C--173682493(+) AATTAC/TTCCTG 1 -- us2k10--------
    rs795145661,2
    C--173682677(+) AGAGGG/TCACAA 1 -- us2k10--------
    rs1894771711,2
    --173682735(+) GAATCC/TAGGAT 1 -- us2k10--------
    rs1140882601,2
    F--173682740(+) TAGGAT/CTGGCC 1 -- us2k11Minor allele frequency- C:0.03WA 118
    rs1447256881,2
    --173682774(+) TTTGCA/GTGTTT 1 -- us2k10--------
    rs1156938471,2
    C--173682859(+) GACCAG/TCTCCC 1 -- us2k10--------
    rs1415905061,2
    --173683301(+) ACAGTC/TTTTCT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for KLHL20 (173684080 - 173755840 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for KLHL20:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv3598CNV Loss18451855
    nsv825420CNV Loss20364138
    nsv831926CNV Gain+Loss17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KLHL20
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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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    Find genes that share disorders with KLHL20           About GenesLikeMe

    Genetic Association Database (GAD): KLHL20

    Export disorders for KLHL20 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 KLHL20 gene, integrated from 10 sources (see all 22):
    (articles sorted by number of sources associating them with KLHL20)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Novel kelch-like protein, KLEIP, is involved in actin assembly at cell-cell contact sites of Madin-Darby canine kidney cells. (PubMed id 14668487)1, 2, 3, 9 Hara T.... Miki T. (Mol. Biol. Cell 2004)
    2. The Cullin 3 substrate adaptor KLHL20 mediates DAPK ubiquitination to control interferon responses. (PubMed id 20389280)1, 2, 3 Lee Y.R.... Chen R.H. (EMBO J. 2010)
    3. The BTB-Kelch protein KLEIP controls endothelial migration and sprouting angiogenesis. (PubMed id 17395875)1, 2, 9 Nacak T.G.... Kroll J. (Circ. Res. 2007)
    4. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    5. 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)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. Update on the Kelch-like (KLHL) gene family. (PubMed id 23676014)1 Dhanoa B.S....Friedman J.S. (Hum. Genomics 2013)
    8. A Y2H-seq approach defines the human protein methyltransferase interactome. (PubMed id 23455924)1 Weimann M.... Stelzl U. (Nat. Methods 2013)
    9. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    10. A Cullin3-KLHL20 Ubiquitin ligase-dependent pathway targets PML to potentiate HIF-1 signaling and prostate cancer progression. (PubMed id 21840486)1 Yuan W.C....Chen R.H. (Cancer Cell 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 27252 HGNC: 25056 AceView: KLEIP Ensembl:ENSG00000076321 euGenes: HUgn27252
    ECgene: KLHL20 H-InvDB: KLHL20

    (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 KLHL20 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 KLHL20 gene:
    Search GeneIP for patents involving KLHL20

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



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