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OSGEP Gene

protein-coding   GIFtS: 56
GCID: GC14M020915

O-Sialoglycoprotein Endopeptidase

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
O-Sialoglycoprotein Endopeptidase1 2 3     PRSMG12
GCPL12 3     Probable O-Sialoglycoprotein Endopeptidase2
hOSGEP2 3     Probable TRNA N6-Adenosine Threonylcarbamoyltransferase2
T(6)A37 Threonylcarbamoyladenosine Biosynthesis Protein OSGEP2 3     Probable TRNA Threonylcarbamoyladenosine Biosynthesis Protein OSGEP2
TRNA Threonylcarbamoyladenosine Biosynthesis Protein OSGEP2 3     EC 2.3.1.-3
KAE12     FLJ204115
OSGEP12     EC 3.4.24.578

External Ids:    HGNC: 180281   Entrez Gene: 556442   Ensembl: ENSG000000920947   OMIM: 6101075   UniProtKB: Q9NPF43   

Export aliases for OSGEP gene to outside databases

Previous GC identifers: GC14M018285 GC14M014702 GC14M018904 GC14M018905 GC14M019985 GC14M001036


(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 OSGEP Gene:
OSGEP (O-sialoglycoprotein endopeptidase) is a protein-coding gene. Diseases associated with OSGEP include pasteurellosis, and hereditary elliptocytosis.

UniProtKB/Swiss-Prot: OSGEP_HUMAN, Q9NPF4
Function: Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on
adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine. The complex is probably
involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of
A37. OSGEP likely plays a direct catalytic role in this reaction, but requires other protein(s) of the complex to
fulfill this activity (By similarity)

Gene Wiki entry for OSGEP 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:
NC_000014.9  NC_018925.2  NT_026437.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the OSGEP gene promoter:
         GR   AP-1   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidOSGEP promoter sequence
   Search Chromatin IP Primers for OSGEP

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


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

Entrez Gene cytogenetic band: 14q11.2   Ensembl cytogenetic band:  14q11.2   HGNC cytogenetic band: 14q12

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

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M020915:  view genomic region     (about GC identifiers)

Start:
20,914,570 bp from pter      End:
20,923,267 bp from pter
Size:
8,698 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: OSGEP_HUMAN, Q9NPF4 (See protein sequence)
Recommended Name: Probable tRNA N6-adenosine threonylcarbamoyltransferase  
Size: 335 amino acids; 36427 Da
Cofactor: Binds 1 divalent metal cation per subunit (By similarity)
Subunit: Component of the EKC/KEOPS complex composed of at least TP53RK, TPRKB, OSGEP and LAGE3; the whole complex
dimerizes. Interacts with PRAME
Secondary accessions: Q6IAC3

Explore the universe of human proteins at neXtProt for OSGEP: NX_Q9NPF4

Explore proteomics data for OSGEP at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys185
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for OSGEP (Q9NPF4) (see all 20)
     YRIFGET  PSPGYNI  DTARHHR  PLVGVNH 


    See OSGEP Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_060277.1  
    ENSEMBL proteins: 
     ENSP00000451784   ENSP00000206542   ENSP00000451548   ENSP00000450464   ENSP00000451787  
     ENSP00000451580   ENSP00000450507  

    OSGEP 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 OSGEP
    OriGene Protein Over-expression Lysate for OSGEP
    OriGene MassSpec for OSGEP
    OriGene Custom Protein Services for OSGEP
    GenScript Custom Purified and Recombinant Proteins Services for OSGEP
    Novus Biologicals OSGEP Protein
    Novus Biologicals OSGEP Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for OSGEP

    OSGEP Antibody Products:

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

    OSGEP Assay Products:

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


    (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:
     IPR017860 Peptidase_M22_CS
     IPR000905 Gcp-like_dom
     IPR017861 KAE1/YgjD

    Graphical View of Domain Structure for InterPro Entry Q9NPF4

    ProtoNet protein and cluster: Q9NPF4

    1 Blocks protein domain: IPB000905 Glycoprotease (M22) metalloprotease

    UniProtKB/Swiss-Prot: OSGEP_HUMAN, Q9NPF4
    Similarity: Belongs to the KAE1 / TsaD family


    OSGEP 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: OSGEP_HUMAN, Q9NPF4
    Function: Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on
    adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine. The complex is probably
    involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of
    A37. OSGEP likely plays a direct catalytic role in this reaction, but requires other protein(s) of the complex to
    fulfill this activity (By similarity)

         Enzyme Numbers (IUBMB): EC 3.4.24.572 EC 2.3.1.-1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016746transferase activity, transferring acyl groups IEA--
    GO:0046872metal ion binding IEA--
         
    OSGEP for ontologies           About GeneDecksing


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

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

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat OSGEP using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate OSGEP:
    hsa-miR-137 hsa-miR-548aa
    SwitchGear 3'UTR luciferase reporter plasmidOSGEP 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for OSGEP
    Predesigned siRNA for gene silencing in human, mouse, rat OSGEP

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

    Clone
    Products:
         
    OriGene clones in human, mouse for OSGEP (see all 7)
    OriGene ORF clones in mouse, rat for OSGEP
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: OSGEP (NM_017807)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for OSGEP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OSGEP

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

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OSGEP


    (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
    OSGEP_HUMAN, Q9NPF4: Cytoplasm (By similarity). Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    endoplasmic reticulum2
    nucleus2
    plasma membrane2
    cytoskeleton1
    extracellular1
    mitochondrion1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IEA--

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

        GeneGlobe Interaction Network for OSGEP

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

    Selected Interacting proteins for OSGEP (Q9NPF42, 3 ENSP000002065424) via UniProtKB, MINT, STRING, and/or I2D (see all 86)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CIAPIN1Q6FI812, 3, ENSP000003779144MINT-8265124 I2D: score=2 STRING: ENSP00000377914
    NVLO153812, 3, ENSP000002817014MINT-8265180 I2D: score=2 STRING: ENSP00000281701
    PKP4Q995692, 3, ENSP000003744094MINT-8265216 I2D: score=2 STRING: ENSP00000374409
    TNS1Q9HBL02, 3, ENSP000001718874MINT-8265301 I2D: score=2 STRING: ENSP00000171887
    C19orf60Q96EN92, 3MINT-8265098 I2D: score=2 
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008033tRNA processing IEA--

    OSGEP 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 OSGEP



    (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 OSGEP gene: 
    NM_017807.3  

    Unigene Cluster for OSGEP:

    O-sialoglycoprotein endopeptidase
    Hs.525196  [show with all ESTs]
    Unigene Representative Sequence: NM_017807
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000555656 ENST00000206542(uc001vxf.3) ENST00000556124 ENST00000553292
    ENST00000554249 ENST00000555223 ENST00000555785 ENST00000554915 ENST00000553640
    ENST00000554699 ENST00000488532 ENST00000556439 ENST00000556252
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat OSGEP using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate OSGEP:
    hsa-miR-137 hsa-miR-548aa
    SwitchGear 3'UTR luciferase reporter plasmidOSGEP 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for OSGEP
    Predesigned siRNA for gene silencing in human, mouse, rat OSGEP
    Clone
    Products:
         
    OriGene clones in human, mouse for OSGEP (see all 7)
    OriGene ORF clones in mouse, rat for OSGEP
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: OSGEP (NM_017807)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for OSGEP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OSGEP
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for OSGEP
    OriGene qSTAR qPCR primer pairs in human, mouse for OSGEP
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat OSGEP
      QuantiTect SYBR Green Assays in human, mouse, rat OSGEP
      QuantiFast Probe-based Assays in human, mouse, rat OSGEP

    Additional mRNA sequence: 

    AB050442.1 AF052137.1 AJ271669.1 AK000418.1 BC032310.1 CR457232.1 

    22 DOTS entries:

    DT.75103706  DT.100818524  DT.100818523  DT.97811425  DT.115639  DT.91753499  DT.115641  DT.75174251 
    DT.95173278  DT.92067929  DT.100818521  DT.100702605  DT.100818519  DT.100818528  DT.95173281  DT.100818522 
    DT.120733028  DT.95173280  DT.97859185  DT.100768690  DT.91771089  DT.95222548 

    Selected AceView cDNA sequences (see all 306):

    CR457232 CR614622 CR594397 CF529471 AK000418 CB125098 CR624248 AI269983 
    BU501715 T17353 BU738809 CD516695 AB050442 CB154918 BQ011129 BM973068 
    BF475273 AI590607 AI824929 BQ880839 BM717680 BM970204 AI420132 BQ011404 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for OSGEP (see all 12)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b · 5c · 5d ^ 6a · 6b · 6c · 6d ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^
    SP1:                                      -                       -     -     -                 -     -           -                       -     -               
    SP2:                                                                                                                                      -     -               
    SP3:                                                                                                              -                       -     -               
    SP4:                                      -                       -     -                       -     -           -                                             
    SP5:                                -     -     -     -     -     -     -     -                 -     -           -                                             

    ExUns: 12a · 12b · 12c
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for OSGEP

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

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

    OSGEP Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.525196

    UniProtKB/Swiss-Prot: OSGEP_HUMAN, Q9NPF4
    Tissue specificity: Widely expressed at low level. Expressed in heart, placenta, liver, kidney, lung, brain,
    skeletal muscle and pancreas

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

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OSGEP

    (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 OSGEP gene from Selected species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Osgep1 , 5 O-sialoglycoprotein endopeptidase1, 5 86.87(n)1
    93.43(a)1
      14 (26.30 cM)5
    662461  NM_133676.21  NP_598437.21 
     509064785 
    lizard
    (Anolis carolinensis)
    Reptilia OSGEP6
    O-sialoglycoprotein endopeptidase
    85(a)
    1 ↔ 1
    GL343220.1(1187750-1198342)
    African clawed frog
    (Xenopus laevis)
    Amphibia osgep-prov2 O-sialoglycoprotein endopeptidase 75.32(n)    BC054300.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufj38e022 Transcribed sequence with moderate similarity to protein more 79.06(n)    57084865 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG49331 , 3 O-sialoglycoprotein endopeptidase3
    CG49331
    69(a)3
    66.67(n)1
    72.24(a)1
      72E23
    398111  NM_140623.41  NP_648880.11 
    worm
    (Caenorhabditis elegans)
    Secernentea Y71H2AM.11 , 3 Y71H2AM.11 70(a)3
    62.69(n)1
    69.85(a)1
      III(2899103-2905602)3
    1753991  NM_065224.51  NP_497625.31 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes KAE1(YKR038C)4
    KAE11
    Highly conserved ATPase of HSP70/DnaK family; component more4
    KAE11
    62.64(n)1
    68.28(a)1
      11(513159-511999)4
    8539101, 4  NP_012964.21, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G227201 AT4G22720 63.34(n)
    70.69(a)
      828368  NM_202864.1  NP_974593.1 
    rice
    (Oryza sativa)
    Liliopsida Os.254882 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 74.21(n)    AK102487.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (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 OSGEP (see all 212)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs619941731,2
    C,F--20914819(+) CAAACT/ACCTGG 1 -- int12Minor allele frequency- A:0.04NA 122
    rs1482311331,2
    --20914865(+) ACTGGC/GATAAC 1 -- int10--------
    rs786411171,2
    C,F--20914960(+) TAGCAC/TGGGAC 1 -- int12Minor allele frequency- T:0.03WA NA 238
    rs1910961181,2
    --20914962(+) GCACGG/TGACCC 1 -- int10--------
    rs1833159081,2
    --20914968(+) GACCCA/GATGCT 1 -- int10--------
    rs779998881,2
    --20915099(+) CCGTTG/TCTTAA 1 -- int10--------
    rs58070361,2
    C,F--20915103(+) TTCTTA/-AAAAA 1 -- int12Minor allele frequency- -:0.50NA CSA 4
    rs735870741,2
    C,F--20915172(+) CAGCAC/TCAAAT 1 -- int13Minor allele frequency- T:0.11WA CSA 122
    rs1429541071,2
    C--20915323(+) ATGACA/TTCAGG 1 -- ut310--------
    rs1451108131,2
    C--20915362(+) GTTCCA/GATTAA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for OSGEP (20914570 - 20923267 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for OSGEP:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv23438CNV Gain+Loss19812545

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

    (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: 610107    OMIM disorders: --

    9 diseases for OSGEP:    
    About MalaCards
    pasteurellosis    hereditary elliptocytosis    shipyard eye    renal tubular acidosis
    pneumonia    essential hypertension    tuberculosis    malaria
    hypertension

    4 diseases from the University of Copenhagen DISEASES database for OSGEP:
    Renal tubular acidosis     Hereditary elliptocytosis     Shipyard eye     Pasteurellosis

    OSGEP for disorders           About GeneDecksing

    Genetic Association Database (GAD): OSGEP
    Human Genome Epidemiology (HuGE) Navigator: OSGEP (2 documents)

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

    1. Sequencing analysis of a putative human O-sialoglycoprotein endopeptidase gene (OSGEP) and analysis of a bidirectional promoter between the OSGEP and APEX genes. (PubMed id 12039036)1, 2, 3 Seki Y.... Matsui H. (Gene 2002)
    2. The human EKC/KEOPS complex is recruited to Cullin2 ubiquitin ligases by the human tumour antigen PRAME. (PubMed id 22912744)1, 2 Costessi A....Stunnenberg H.G. (PLoS ONE 2012)
    3. Haplotype-based case-control study on human apurinic/apyrimidinic endonuclease 1/redox effector factor-1 gene and essential hypertension. (PubMed id 20010699)1, 4 Naganuma T....Usami R. (Am. J. Hypertens. 2010)
    4. 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)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. 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)
    7. A high-throughput approach for measuring temporal changes in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (Nat. Methods 2012)
    8. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)2 Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    10. A directed protein interaction network for investigating intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (Sci Signal 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)
    About This Section

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    Entrez Gene: 55644 HGNC: 18028 AceView: OSGEP Ensembl:ENSG00000092094 euGenes: HUgn55644
    ECgene: OSGEP H-InvDB: OSGEP

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for OSGEP Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for OSGEP gene:
    Search GeneIP for patents involving OSGEP

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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