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

OS9 Gene

protein-coding   GIFtS: 57
GCID: GC12P058088

Osteosarcoma Amplified 9, Endoplasmic Reticulum Lectin

  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)
About This Section

Aliases
Osteosarcoma Amplified 9, Endoplasmic Reticulum Lectin1 2     ERLEC22
Endoplasmic Reticulum Lectin 21 2     OS-92
Erlectin 21 2     Osteosarcoma Amplified 9, Endoplasmic Reticulum Associated Protein2
Amplified In Osteosarcoma 92 3     Protein OS-92

External Ids:    HGNC: 169941   Entrez Gene: 109562   Ensembl: ENSG000001355067   OMIM: 6096775   UniProtKB: Q134383   

Export aliases for OS9 gene to outside databases

Previous GC identifers: GC12P056375 GC12P055124


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for OS9 Gene:
This gene encodes a protein that is highly expressed in osteosarcomas. This protein binds to the hypoxia-inducible
factor 1 (HIF-1), a key regulator of the hypoxic response and angiogenesis, and promotes the degradation of one
of its subunits. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.
(provided by RefSeq, Jul 2008)

GeneCards Summary for OS9 Gene: 
OS9 (osteosarcoma amplified 9, endoplasmic reticulum lectin) is a protein-coding gene. Diseases associated with OS9 include osteosarcoma, and hypoxia. GO annotations related to this gene include glycoprotein binding and protease binding. An important paralog of this gene is ERLEC1.

UniProtKB/Swiss-Prot: OS9_HUMAN, Q13438
Function: Lectin which functions in endoplasmic reticulum (ER) quality control and ER-associated degradation
(ERAD). May bind terminally misfolded non-glycosylated proteins as well as improperly folded glycoproteins,
retain them in the ER, and possibly transfer them to the ubiquitination machinery and promote their degradation.
Possible targets include TRPV4

Gene Wiki entry for OS9 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NT_029419.12  NC_018923.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the OS9 gene promoter:
         AML1a   LCR-F1   CBF-C   C/EBPalpha   MZF-1   CBF-A   CBF-B   CP1A   CP1C   NF-Y   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidOS9 promoter sequence
   Search SABiosciences Chromatin IP Primers for OS9

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat OS9


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

Entrez Gene cytogenetic band: 12q13   Ensembl cytogenetic band:  12q13.3   HGNC cytogenetic band: 12q13

OS9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
OS9 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P058088:  view genomic region     (about GC identifiers)

Start:
58,087,738 bp from pter      End:
58,115,340 bp from pter
Size:
27,603 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: OS9_HUMAN, Q13438 (See protein sequence)
Recommended Name: Protein OS-9 precursor  
Size: 667 amino acids; 75562 Da
Subunit: Probably part of the HRD1 ubiquitin ligase complex composed at least of SYVN1/HRD1 and SEL1L with which
it interacts directly. Through this complex it may interact with ERLEC1 and HSPA5. Interacts with DERL2.
Interacts with HSP90B1 and CREB3
Subcellular location: Endoplasmic reticulum lumen
1 PDB 3D structure from and Proteopedia for OS9:
3AIH (3D)    
Secondary accessions: A6NDD1 A6NFR7 A6NLB2 A8K5Q9 B4DE28 B4DPX1 B4E1I6 E7ENT8 E7EW91 F8VUH2
G3XA88 O00579 Q6IBL2 Q8IZ58 Q9BW99
Alternative splicing: 8 isoforms:  Q13438-1   Q13438-2   Q13438-3   Q13438-4   Q13438-5   Q13438-6   Q13438-7   Q13438-8   
(No experimental confirmation available)

Explore the universe of human proteins at neXtProt for OS9: NX_Q13438

Explore proteomics data for OS9 at MOPED 

Post-translational modifications:

  • UniProtKB: Intramolecular disulfide bonds
  • UniProtKB: Isoform 1 and isoform 2 are N-glycosylated
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q13438

  • OS9 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    OS9 Protein Expression
    REFSEQ proteins (8 alternative transcripts): 
    NP_001017956.1  NP_001017957.1  NP_001017958.1  NP_001248349.1  NP_001248350.1  NP_001248351.1  NP_001248352.1  NP_006803.1  

    ENSEMBL proteins: 
     ENSP00000450010   ENSP00000318165   ENSP00000448478   ENSP00000447031   ENSP00000447451  
     ENSP00000449789   ENSP00000407360   ENSP00000373798   ENSP00000413112   ENSP00000447866  
     ENSP00000257966   ENSP00000389632   ENSP00000447719   ENSP00000373794   ENSP00000447163  

    Human Recombinant Protein Products for OS9: 
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    OriGene Protein Over-expression Lysate for OS9
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    Novus Biologicals OS9 Proteins
    Novus Biologicals OS9 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for OS9 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000836Hrd1p ubiquitin ligase complex NAS18502753
    GO:0005783endoplasmic reticulum ----
    GO:0005788endoplasmic reticulum lumen IDA18264092

    OS9 for ontologies           About GeneDecksing



    OS9 Antibody Products: 
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    Novus Biologicals OS9 Antibodies
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    ThermoFisher Antibody for OS9
    LSBio Antibodies in human, mouse, rat for OS9 

    Assay Products for OS9: 
    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for OS9 
    Cloud-Clone Corp. CLIAs for OS9


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR009011 Man6P_isomerase_rcpt-bd_dom
     IPR012913 PRKCSH

    Graphical View of Domain Structure for InterPro Entry Q13438

    ProtoNet protein and cluster: Q13438

    1 Blocks protein domain: IPB012913 Glucosidase II beta subunit-like

    UniProtKB/Swiss-Prot: OS9_HUMAN, Q13438
    Similarity: Belongs to the OS-9 family
    Similarity: Contains 1 PRKCSH domain


    OS9 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: OS9_HUMAN, Q13438
    Function: Lectin which functions in endoplasmic reticulum (ER) quality control and ER-associated degradation
    (ERAD). May bind terminally misfolded non-glycosylated proteins as well as improperly folded glycoproteins,
    retain them in the ER, and possibly transfer them to the ubiquitination machinery and promote their degradation.
    Possible targets include TRPV4
    Induction: Up-regulated in response to endoplasmic reticulum stress (at protein level)

         Genatlas biochemistry entry for OS9:
    homogeneously staining-region encoded sequence OS9,from an osteosarcoma-cell line,with three isoforms,coamplified
    with CDK4,PRIM1,SAS in osteosarcoma

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001948glycoprotein binding IDA18264092
    GO:0002020protease binding IEA--
    GO:0005515protein binding IPI15721254
         
    OS9 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for OS9:
     Decreased viability of wild-ty  Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for OS9 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for OS9

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for OS9 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for OS9 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat OS9
    3 QIAGEN miScript miRNA Assays for microRNAs that regulate OS9:
    hsa-miR-145 hsa-miR-219-5p hsa-miR-508-3p
    SwitchGear 3'UTR luciferase reporter plasmidOS9 3' UTR sequence
    Inhib. RNA
    Products:
        
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    OriGene RNAi products in human, mouse, rat for OS9
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of OS9

    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 4): OS9 (NM_006812)
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for OS9
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                         Customized lentivirus expression plasmids for stable overexpression of OS9 

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    Search LifeMap BioReagents cell lines for OS9
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OS9


    (Pathways according to EMD Millipore, 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 SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for OS9 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Protein processing in endoplasmic reticulum
    Protein processing in endoplasmic reticulum
    2Protein Stability
    Protein Stability
    3Hypoxic and oxygen homeostasis regulation of HIF-1-alpha
    Hypoxic and oxygen homeostasis regulation of HIF-1-alpha
    4Translational Control
    Translational Control

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Cell Signaling Technology (CST) Pathways for OS9
        Translational Control
    Protein Stability

    1 BioSystems Pathway for OS9
        Hypoxic and oxygen homeostasis regulation of HIF-1-alpha


    1         Kegg Pathway  (Kegg details for OS9):
        Protein processing in endoplasmic reticulum


    OS9 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for OS9

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

    5/35 Interacting proteins for OS9 (Q134381, 2, 3 ENSP000003181654) via UniProtKB, MINT, STRING, and/or I2D (see all 35)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD2Q157962, 3MINT-60916 I2D: score=3 
    ZNF512BQ96KM62, 3MINT-60815 I2D: score=2 
    EGLN1Q9GZT91, 3, ENSP000003556014EBI-725454,EBI-1174818 I2D: score=4 STRING: ENSP00000355601
    HIF1AQ166651, 3, ENSP000003380184EBI-725454,EBI-447269 I2D: score=5 STRING: ENSP00000338018
    EGLN3Q9H6Z93, ENSP000002504574I2D: score=4 STRING: ENSP00000250457
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006605protein targeting IEA--
    GO:0006621protein retention in ER lumen IDA18417469
    GO:0016567protein ubiquitination IMP19084021
    GO:0030433ER-associated protein catabolic process IMP18264092
    GO:0034976response to endoplasmic reticulum stress IDA19084021

    OS9 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for OS9

    Search CenterWatch for drugs/clinical trials and news about OS9

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for OS9 gene (8 alternative transcripts): 
    NM_001017956.2  NM_001017957.2  NM_001017958.2  NM_001261420.1  NM_001261421.1  NM_001261422.1  NM_001261423.1  NM_006812.3  

    Unigene Cluster for OS9:

    Osteosarcoma amplified 9, endoplasmic reticulum lectin
    Hs.527861  [show with all ESTs]
    Unigene Representative Sequence: NM_006812
    18/23 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 23):
    ENST00000552285 ENST00000549897 ENST00000315970(uc001spj.3 uc010srx.2 uc001spk.3 uc001spl.3 uc001spm.3 uc001spn.3 uc010sry.2 uc010srz.2)
    ENST00000550848 ENST00000547079 ENST00000552787 ENST00000551285 ENST00000439210
    ENST00000389146 ENST00000413095 ENST00000551035 ENST00000257966 ENST00000435406
    ENST00000550372 ENST00000553208 ENST00000389142 ENST00000550793 ENST00000552423

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat OS9
    3 QIAGEN miScript miRNA Assays for microRNAs that regulate OS9:
    hsa-miR-145 hsa-miR-219-5p hsa-miR-508-3p
    SwitchGear 3'UTR luciferase reporter plasmidOS9 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for OS9
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat OS9
    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 4): OS9 (NM_006812)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for OS9
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OS9
    Sirion Biotech Customized lentivirus for stable overexpression of OS9 
                         Customized lentivirus expression plasmids for stable overexpression of OS9 
    Primer
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    OriGene qPCR primer pairs and template standards for OS9
    OriGene qSTAR qPCR primer pairs in human, mouse for OS9
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat OS9
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat OS9

    Additional mRNA sequence: 

    AB002806.1 AK130733.1 AK291374.1 AK293435.1 AK296770.1 AK298532.1 AK303858.1 AK304533.1 
    BC000532.2 BC006506.2 BC007254.1 BC023513.2 CR456791.1 EF036505.1 U09408.1 U41635.1 

    24/46 DOTS entries (see all 46):

    DT.455567  DT.100682332  DT.100682338  DT.100894740  DT.100846873  DT.95165428  DT.86846445  DT.100875178 
    DT.121176688  DT.121176686  DT.100682333  DT.100039316  DT.101965445  DT.121176647  DT.100682341  DT.95165476 
    DT.100682353  DT.121176622  DT.100682335  DT.121176593  DT.100682357  DT.121176695  DT.40313741  DT.95165517 

    24/962 AceView cDNA sequences (see all 962):

    CB132246 AU150635 BE297464 AA447825 CA438048 AW264584 AW004822 BU944040 
    BQ581741 CK820757 BU557377 BQ710351 AI188570 AL556169 AI084117 BU553037 
    BP336741 CF132317 BE796257 AU125160 BE047727 AA298586 CR613922 BQ880109 

    GeneLoc Exon Structure

    5/26 Alternative Splicing Database (ASD) splice patterns (SP) for OS9 (see all 26)    About this scheme

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

    ExUns: 10c ^ 11a · 11b · 11c ^ 12 ^ 13 ^ 14a · 14b · 14c ^ 15a · 15b ^ 16a · 16b · 16c ^ 17a · 17b · 17c · 17d ^ 18a · 18b ^ 19 ^ 20a · 20b · 20c
    SP1:        -                                         -                                                                                             
    SP2:        -                                                                                                                                       
    SP3:        -                                                                                                                                       
    SP4:        -                                         -                                                                                             
    SP5:        -                                                                                                                                       


    ECgene alternative splicing isoforms for OS9

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    OS9 expression in normal human tissues (normalized intensities)      OS9 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCTTGAACA
    OS9 Expression
    About this image


    OS9 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/46 selected tissues (see all 46) fully expand
     
     Brain (Nervous System)    fully expand to see all 13 entries
             Thalamus
             brain/forebrain/telencephalon   
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; endothelial cells   

    See OS9 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for OS9

    SOURCE GeneReport for Unigene cluster: Hs.527861

    UniProtKB/Swiss-Prot: OS9_HUMAN, Q13438
    Tissue specificity: Ubiquitously expressed. Found as well in all tumor cell lines analyzed, amplified in sarcomas.
    Highly expressed in osteosarcoma SJSA-1 and rhabdomyosarcoma Rh30 cell lines. Isoform 2 is the major isoform
    detected in all cell types examined

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for OS9 gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Os91 , 5 amplified in osteosarcoma1, 5 83.68(n)1
    82.38(a)1
      10 (74.50 cM)5
    2164401  NM_001171026.11  NP_001164497.11 
     1270942595 
    lizard
    (Anolis carolinensis)
    Reptilia OS96
    Uncharacterized protein
    47(a)
    1 ↔ 1
    GL343847.1(116414-158913)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.192232 Xenopus laevis transcribed sequence with weak similarity more 73.54(n)    BJ614758.1 
    zebrafish
    (Danio rerio)
    Actinopterygii os91 amplified in osteosarcoma 56.8(n)
    51.27(a)
      553455  NM_001075108.1  NP_001068576.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F48E8.46
    Protein F48E8.4
    11(a)
    1 ↔ 1
    III(5453606-5459668)


    ENSEMBL Gene Tree for OS9 (if available)
    TreeFam Gene Tree for OS9 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for OS9 gene
    ERLEC12  
    1 SIMAP similar gene for OS9 using alignment to 8 protein entries:     OS9_HUMAN (see all proteins):
    ERLEC1

    OS9 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/687 SNPs in OS9 are shown (see all 687)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs79783941,2
    C--55128547(+) aaacaC/Aacaca 8 -- int11Minor allele frequency- A:0.50WA 2
    rs1997328951,2
    --55137498(+) AAAAA-/AAAAAG
            
    TTTAG
    8 -- int10--------
    rs786793711,2
    C--55143120(+) TAAAT-/CTTTAA 8 -- int10--------
    rs801726931,2
    C,F--57920252(+) ATCCTA/CATGTT 8 -- us2k11Minor allele frequency- C:0.06WA 118
    rs770382491,2
    C,F--57920254(+) CCTAAT/CGTTAT 8 -- us2k11Minor allele frequency- C:0.06WA 118
    rs26194421,2
    C,H--57920324(+) ttttgT/Actgta 8 -- us2k14Minor allele frequency- A:0.00NS EA 420
    rs1403431251,2
    C--57920471(+) GAGAC-/TGTTCTT 8 -- us2k10--------
    rs1896894491,2
    --57920511(+) TTTTTA/GATGAT 8 -- us2k10--------
    rs1823101101,2
    --57920527(+) CTGATC/TCTCTG 8 -- us2k10--------
    rs1878742491,2
    --57920611(+) TTTCTC/GCTAAA 8 -- us2k10--------

    HapMap Linkage Disequilibrium report for OS9 (58087738 - 58115340 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for OS9:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv899121CNV Loss21882294
    nsv470296CNV Loss18288195
    nsv508676CNV Loss20534489

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 609677    OMIM disorders: --

    5 diseases for OS9:    About MalaCards
    osteosarcoma    hypoxia    rhabdomyosarcoma    sarcoma
    melanoma


    OS9 for disorders           About GeneDecksing

    Genetic Association Database (GAD): OS9
    Human Genome Epidemiology (HuGE) Navigator: OS9 (1 document)

    Export disorders for OS9 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)
    About This Section

    PubMed articles for OS9 gene, integrated from 9 sources (see all 45):
    (articles sorted by number of sources associating them with OS9)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human OS-9, a lectin required for glycoprotein endoplasmic reticulum- associated degradation, recognizes mannose-trimmed N-glycans. (PubMed id 19346256)1, 2, 3 Hosokawa N.... Nagata K. (2009)
    2. OS-9 and GRP94 deliver mutant alpha1-antitrypsin to the Hrd1-SEL1L ubiquitin ligase complex for ERAD. (PubMed id 18264092)1, 2, 3 Christianson J.C.... Kopito R.R. (2008)
    3. Genomic organization of the OS-9 gene amplified in human sarcomas. (PubMed id 9498564)1, 2, 3 Kimura Y....Yamada M. (1997)
    4. Complete sequence analysis of a gene (OS-9) ubiquitously expressed in human tissues and amplified in sarcomas. (PubMed id 8634085)1, 2, 3 Su Y.A.... Meltzer P.S. (1996)
    5. DC-STAMP interacts with ER-resident transcription fac tor LUMAN which becomes activated during DC maturation. (PubMed id 20546900)1, 2 Eleveld-Trancikova D....Adema G.J. (2010)
    6. Genome-wide searching of rare genetic variants in WTC CC data. (PubMed id 20549515)1, 4 Feng T. and Zhu X. (2010)
    7. Structural basis for oligosaccharide recognition of misfolded glycoproteins by OS-9 in ER-associated degradation. (PubMed id 21172656)1, 2 Satoh T.... Yamaguchi Y. (2010)
    8. Mammalian OS-9 is upregulated in response to endoplasmic reticulum stress and facilitates ubiquitination of misfolded glycoproteins. (PubMed id 19084021)1, 2 Alcock F. and Swanton E. (2009)
    9. Human XTP3-B forms an endoplasmic reticulum quality control scaffold with the HRD1-SEL1L ubiquitin ligase complex and BiP. (PubMed id 18502753)1, 2 Hosokawa N.... Nagata K. (2008)
    10. A dual task for the Xbp1-responsive OS-9 variants in the mammalian endoplasmic reticulum: inhibiting secretion of misfolded protein conformers and enhancing their disposal. (PubMed id 18417469)1, 2 Bernasconi R....Molinari M. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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
    Entrez Gene: 10956 HGNC: 16994 AceView: OS-9 Ensembl:ENSG00000135506 euGenes: HUgn10956
    ECgene: OS9 Kegg: 10956 H-InvDB: OS9

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for OS9 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for OS9 gene:
    Search GeneIP for patents involving OS9

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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