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SMEK2 Gene

protein-coding   GIFtS: 54
GCID: GC02M055775

SMEK Homolog 2, Suppressor Of Mek1 (Dictyostelium)

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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
SMEK Homolog 2, Suppressor Of Mek1 (Dictyostelium)1 2     smk12
PP4R3B2 3 5     KIAA13873
FLFL22     PPP4R3B3
PSY22     SMEK Homolog 23
Serine/Threonine-Protein Phosphatase 4 Regulatory Subunit 3B2     

External Ids:    HGNC: 292671   Entrez Gene: 572232   Ensembl: ENSG000001380417   OMIM: 6103525   UniProtKB: Q5MIZ73   

Export aliases for SMEK2 gene to outside databases

Previous GC identifers: GC02M055688 GC02M055629 GC02M055510


(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 SMEK2 Gene:
SMEK2 (SMEK homolog 2, suppressor of mek1 (Dictyostelium)) is a protein-coding gene. An important paralog of this gene is SMEK1.

UniProtKB/Swiss-Prot: P4R3B_HUMAN, Q5MIZ7
Function: Regulatory subunit of serine/threonine-protein phosphatase 4 (PP4). May regulate the activity of PPP4C
at centrosomal microtubule organizing centers

Gene Wiki entry for SMEK2 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_000002.11  NT_022184.16  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SMEK2 gene promoter:
         AhR   p53   AML1a   NCX/Ncx   XBP-1   Arnt   YY1   Evi-1   E47   SRY   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSMEK2 promoter sequence
   Search Chromatin IP Primers for SMEK2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SMEK2


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

Entrez Gene cytogenetic band: 2p16.1   Ensembl cytogenetic band:  2p16.1   HGNC cytogenetic band: 2p16.1

SMEK2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SMEK2 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M055775:  view genomic region     (about GC identifiers)

Start:
55,774,428 bp from pter      End:
55,846,015 bp from pter
Size:
71,588 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, 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: P4R3B_HUMAN, Q5MIZ7 (See protein sequence)
Recommended Name: Serine/threonine-protein phosphatase 4 regulatory subunit 3B  
Size: 849 amino acids; 97458 Da
Subunit: Serine/threonine-protein phosphatase 4 (PP4) occurs in different assemblies of the catalytic and one or
more regulatory subunits. Component of the PP4 complex PPP4C-PPP4R2-PPP4R3B
Sequence caution: Sequence=BAA92625.1; Type=Erroneous initiation;
Secondary accessions: Q6P9B0 Q86XB8 Q9BQJ0 Q9BRK2 Q9H913 Q9P2G0
Alternative splicing: 5 isoforms:  Q5MIZ7-1   Q5MIZ7-2   Q5MIZ7-3   Q5MIZ7-4   Q5MIZ7-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SMEK2: NX_Q5MIZ7

Explore proteomics data for SMEK2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys601
  • Modification sites at PhosphoSitePlus

  • See SMEK2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001116436.2  NP_001269779.1  NP_065196.1  

    ENSEMBL proteins: 
     ENSP00000272313   ENSP00000385912   ENSP00000339769  

    SMEK2 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Novus Biologicals SMEK2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SMEK2

     
    Search eBioscience for Proteins for SMEK2 

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    LSBio Antibodies in human, mouse, rat for SMEK2

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    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for SMEK2
    Cloud-Clone Corp. CLIAs for SMEK2
    Search eBioscience for ELISAs for SMEK2 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR006887 DUF625
     IPR011993 PH_like_dom
     IPR016024 ARM-type_fold

    Graphical View of Domain Structure for InterPro Entry Q5MIZ7

    ProtoNet protein and cluster: Q5MIZ7

    UniProtKB/Swiss-Prot: P4R3B_HUMAN, Q5MIZ7
    Similarity: Belongs to the SMEK family
    Similarity: Contains 1 WH1 domain


    Find genes that share domains with SMEK2           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: P4R3B_HUMAN, Q5MIZ7
    Function: Regulatory subunit of serine/threonine-protein phosphatase 4 (PP4). May regulate the activity of PPP4C
    at centrosomal microtubule organizing centers

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005488binding ----
    GO:0005515protein binding ----
         
    Find genes that share ontologies with SMEK2           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SMEK2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SMEK2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SMEK2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SMEK2

    miRNA
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    miRTarBase miRNAs that target SMEK2:
    hsa-mir-16-5p (MIRT051269), hsa-mir-31-5p (MIRT049885), hsa-mir-106b-5p (MIRT044263)

    Block miRNA regulation of human, mouse, rat SMEK2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SMEK2 (see all 40):
    hsa-miR-300 hsa-miR-29a hsa-miR-218 hsa-miR-374c hsa-miR-889 hsa-miR-4330 hsa-miR-23a hsa-miR-3148
    SwitchGear 3'UTR luciferase reporter plasmidSMEK2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SMEK2

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): SMEK2 (NM_001122964)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SMEK2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SMEK2

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    Browse ESI BIO Cell Lines and PureStem Progenitors for SMEK2 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMEK2


    (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
    P4R3B_HUMAN, Q5MIZ7: Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Nucleus.
    Note=In interphase localized in the cytoplasm and (with higher levels) the nucleus. During metaphase located in
    pericentriolar regions
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus5
    cytosol1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IEA--
    GO:0005815microtubule organizing center IEA--
    GO:0030289protein phosphatase 4 complex IEA--

    Find genes that share ontologies with SMEK2           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 SMEK2 About    
    See pathways by source

    SuperPathContained pathways About
    1Integrated Breast Cancer Pathway
    Integrated Breast Cancer Pathway


    1 BioSystems Pathway for SMEK2
        Integrated Breast Cancer Pathway


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SMEK2
    Interactions:

        Search GeneGlobe Interaction Network for SMEK2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for SMEK2 (Q5MIZ72, 3 ENSP000003397694) via UniProtKB, MINT, STRING, and/or I2D (see all 97)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FEZ1Q996892, 3MINT-65316 I2D: score=5 
    HIST1H2BCP628073, ENSP000003217444I2D: score=1 STRING: ENSP00000321744
    HIST1H2BFP628073, ENSP000003530744I2D: score=1 STRING: ENSP00000353074
    HIST1H2BIP628073, ENSP000003669624I2D: score=1 STRING: ENSP00000366962
    HIST1H2BEP628073, ENSP000003489244I2D: score=1 STRING: ENSP00000348924
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006470protein dephosphorylation IEA--
    GO:0019216regulation of lipid metabolic process IEA--
    GO:0045722positive regulation of gluconeogenesis IEA--

    Find genes that share ontologies with SMEK2           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 SMEK2 (P4R3B)



    (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 SMEK2 gene (3 alternative transcripts): 
    NM_001122964.2  NM_001282850.1  NM_020463.3  

    Unigene Cluster for SMEK2:

    SMEK homolog 2, suppressor of mek1 (Dictyostelium)
    Hs.516182  [show with all ESTs]
    Unigene Representative Sequence: NM_001122964
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000272313 ENST00000407823(uc002ryz.3 uc002rza.3 uc002rzb.3 uc002rzd.3)
    ENST00000345102(uc002rzc.3) ENST00000482826 ENST00000470801 ENST00000477749

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat SMEK2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SMEK2 (see all 40):
    hsa-miR-300 hsa-miR-29a hsa-miR-218 hsa-miR-374c hsa-miR-889 hsa-miR-4330 hsa-miR-23a hsa-miR-3148
    SwitchGear 3'UTR luciferase reporter plasmidSMEK2 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for SMEK2
    Predesigned siRNA for gene silencing in human, mouse, rat SMEK2
    Clone
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    OriGene clones in human, mouse for SMEK2 (see all 11)
    OriGene ORF clones in mouse, rat for SMEK2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): SMEK2 (NM_001122964)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SMEK2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SMEK2
    Primer
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    OriGene qPCR primer pairs and template standards for SMEK2
    OriGene qSTAR qPCR primer pairs in human, mouse for SMEK2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SMEK2
      QuantiTect SYBR Green Assays in human, mouse, rat SMEK2
      QuantiFast Probe-based Assays in human, mouse, rat SMEK2

    Additional mRNA sequence: 

    AB037808.1 AK023148.1 AK026437.1 AK056036.1 AK056503.1 AK098321.1 AK296481.1 AL122106.1 
    AL136556.1 AY825268.1 AY825269.1 BC006215.2 BC032531.1 BC045714.1 BC060855.1 

    17 DOTS entries:

    DT.314086  DT.99941547  DT.100810415  DT.91754194  DT.101984410  DT.102845489  DT.91754206  DT.40112761 
    DT.100821557  DT.423238  DT.100821556  DT.431101  DT.100821558  DT.75158776  DT.95083390  DT.121005563 
    DT.75124167 

    Selected AceView cDNA sequences (see all 341):

    BX107725 AA805613 AU117284 AI826718 AU131164 BQ004576 BM835261 BM794157 
    BF792479 AW589379 BU630214 BM685272 T17248 CD679152 AI242379 AW192322 
    BM993435 CB129000 AL122106 R62828 AB037808 AI811341 BE535491 BM677024 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SMEK2 (see all 11)    About this scheme

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

    ExUns: 18a · 18b · 18c ^ 19a · 19b ^ 20 ^ 21a · 21b
    SP1:  -                                             
    SP2:  -                                             
    SP3:  -                                             
    SP4:  -                 -                           
    SP5:  -                 -                           


    ECgene alternative splicing isoforms for SMEK2

    (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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    SMEK2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGTGATATT
    SMEK2 Expression
    About this image


    SMEK2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Bone (Muscoskeletal System)
             Bone Marrow
    SMEK2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SMEK2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.516182

    UniProtKB/Swiss-Prot: P4R3B_HUMAN, Q5MIZ7
    Tissue specificity: Moderately expressed in tissues and specific brain regions examined

        Custom PCR Arrays for SMEK2
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    QuantiFast Probe-based Assays in human, mouse, rat SMEK2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMEK2

    (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 eukaryotes.

    Orthologs for SMEK2 gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Smek21 , 5 SMEK homolog 2, suppressor of mek1 (Dictyostelium)1, 5 93.15(n)1
    96.7(a)1
      11 (16.46 cM)5
    1045701  NM_134034.21  NP_598795.21 
     291728905 
    chicken
    (Gallus gallus)
    Aves SMEK21 SMEK homolog 2, suppressor of mek1 (Dictyostelium) 85.21(n)
    94.73(a)
      426680  XM_424305.4  XP_424305.3 
    lizard
    (Anolis carolinensis)
    Reptilia SMEK26
    SMEK homolog 2, suppressor of mek1 (Dictyostelium)...
    95(a)
    1 ↔ 1
    1(256018412-256061792)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC531592 hypothetical protein MGC53159 82.59(n)    BC047970.1 
    zebrafish
    (Danio rerio)
    Actinopterygii smek21 SMEK homolog 2, suppressor of mek1 (Dictyostelium) 67.65(n)
    77.25(a)
      336198  NM_200001.2  NP_956295.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta flfl1 falafel 59.95(n)
    61.09(a)
      41675  NM_169548.3  NP_731849.2 
    worm
    (Caenorhabditis elegans)
    Secernentea smk-16
    Protein SMK-1, isoform c
    28(a)
    1 → many
    V(8607800-8615831) WBGene00018285
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PSY26
    Subunit of protein phosphatase PP4 complex; active...
    22(a)
    1 → many
    XIV(260627-263203) YNL201C
    rice
    (Oryza sativa)
    Liliopsida Os.165492 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 72.48(n)    NM_183913.1 


    ENSEMBL Gene Tree for SMEK2 (if available)
    TreeFam Gene Tree for SMEK2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SMEK2 gene
    SMEK12  
    2 SIMAP similar genes for SMEK2 using alignment to 1 protein entry:     P4R3B_HUMAN:
    SMEK1    SMEK3P

    Find genes that share paralogs with SMEK2           About GenesLikeMe


    3 Pseudogenes.org Pseudogenes for SMEK2
    PGOHUM00000249278 PGOHUM00000249582 PGOHUM00000241218


    (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 SMEK2 (see all 1687)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs352574581,2
    C--55673197(+) AAACA-/TAGAATT 2 -- int12Minor allele frequency- TA:0.25NA CSA 4
    rs10585821,2
    C,F--55775069(-) TCCTAA/GTTACT 2 -- int1 ds50013Minor allele frequency- G:0.43MN NA 188
    rs1876861671,2
    C--55775243(+) TTACTA/GTATGT 2 -- int1 ds50010--------
    rs1495038521,2
    --55775383(+) ATTGGA/GGTATG 2 -- int1 ds50010--------
    rs1443031011,2
    --55775395(+) TCTAGC/TAGTTT 2 -- int1 ds50010--------
    rs1922923161,2
    --55775539(+) TTAATG/TCCTGA 2 -- ut310--------
    rs80801,2
    C,F,H--55775724(-) CTGTTT/CTGGAG 2 -- ut3116Minor allele frequency- C:0.23MN NS EA NA WA 1878
    rs1430225821,2
    --55775730(+) AACAGG/TGGAAA 2 -- ut310--------
    rs115533731,2
    C--55775804(+) GATTGT/GGGCTG 2 -- ut31 ese31Minor allele frequency- G:0.00NA 2
    rs1843037111,2
    C--55776028(+) AAAGCA/TGCTTT 2 -- ut310--------

    HapMap Linkage Disequilibrium report for SMEK2 (55774428 - 55846015 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for SMEK2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv829430CNV Loss20364138
    nsv834080CNV Loss17160897
    nsv874160CNV Loss21882294
    nsv520581CNV Loss19592680
    nsv525434CNV Loss19592680
    dgv1185e1CNV Complex17122850

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SMEK2
    DNA2.0 Custom Variant and Variant Library Synthesis for SMEK2

    (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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    OMIM gene information: 610352    OMIM disorders: --


    Find genes that share disorders with SMEK2           About GenesLikeMe

    Genetic Association Database (GAD): SMEK2

    Export disorders for SMEK2 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 SMEK2 gene, integrated from 10 sources (see all 29):
    (articles sorted by number of sources associating them with SMEK2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A PP4-phosphatase complex dephosphorylates gamma-H2AX generated during DNA replication. (PubMed id 18614045)1, 2, 3 Chowdhury D.... Lieberman J. (Mol. Cell 2008)
    2. A novel, evolutionarily conserved protein phosphatase complex involved in cisplatin sensitivity. (PubMed id 16085932)1, 2, 3 Gingras A.-C.... Aebersold R. (Mol. Cell. Proteomics 2005)
    3. Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits. (PubMed id 22399527)1, 4 Kristiansson K....Salomaa V. (Circ Cardiovasc Genet 2012)
    4. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (Nat. Biotechnol. 2006)
    5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W.... Wilson R.K. (Nature 2005)
    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. (Genome Res. 2004)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. An endoribonuclease-prepared siRNA screen in human cells identifies genes essential for cell division. (PubMed id 15616564)1, 2 Kittler R....Buchholz F. (Nature 2004)
    9. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (Genome Res. 2001)
    10. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10718198)1, 2 Nagase T.... Ohara O. (DNA Res. 2000)

    (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: 57223 HGNC: 29267 AceView: KIAA1387 Ensembl:ENSG00000138041 euGenes: HUgn57223
    ECgene: SMEK2 H-InvDB: SMEK2

    (According to HUGE)
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    HUGE: KIAA1387

    (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 SMEK2 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 SMEK2 gene:
    Search GeneIP for patents involving SMEK2

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



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    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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