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ERN2 Gene

protein-coding   GIFtS: 50
GCID: GC16M023701

Endoplasmic Reticulum To Nucleus Signaling 2

(Previous name: ER to nucleus signalling 2)
  Search for ERN2
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
Endoplasmic Reticulum To Nucleus Signaling 21 2     Inositol-Requiring 1 Beta2
ER To Nucleus Signalling 21 2     IRE1 Beta2
Endoplasmic Reticulum-To-Nucleus Signaling 22 3     IRE1, S. Cerevisiae, Homolog Of2
Inositol-Requiring Protein 22 3     Serine/Threonine-Protein Kinase/Endoribonuclease IRE22
IRE1b2 3     IRE23
hIRE2p2 3     Ire1-beta3
IRE1-BETA2     EC 2.7.118
Endoplasmic Reticulum To Nucleus Signalling 22     

External Ids:    HGNC: 169421   Entrez Gene: 105952   Ensembl: ENSG000001343987   OMIM: 6040345   UniProtKB: Q76MJ53   

Export aliases for ERN2 gene to outside databases

Previous GC identifers: GC16M023110 GC16M023789 GC16M023617 GC16M023668 GC16M023684 GC16M023609 GC16U900517 GC16M021791


(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 ERN2 Gene:
ERN2 (endoplasmic reticulum to nucleus signaling 2) is a protein-coding gene. GO annotations related to this gene include protein serine/threonine kinase activity and endonuclease activity. An important paralog of this gene is ERN1.

UniProtKB/Swiss-Prot: ERN2_HUMAN, Q76MJ5
Function: Induces translational repression through 28S ribosomal RNA cleavage in response to ER stress.
Pro-apoptotic. Appears to play no role in the unfolded-protein response, unlike closely related proteins




(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_000016.10  NT_187260.1  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ERN2 gene promoter:
         ER-alpha   AML1a   Pax-2   Pax-2a   GATA-1   Max   HEN1   c-Myb   RSRFC4   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidERN2 promoter sequence
   Search Chromatin IP Primers for ERN2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ERN2


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

Entrez Gene cytogenetic band: 16p12.2   Ensembl cytogenetic band:  16p12.2   HGNC cytogenetic band: 16p12.2

ERN2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ERN2 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M023701:  view genomic region     (about GC identifiers)

Start:
23,701,625 bp from pter      End:
23,724,821 bp from pter
Size:
23,197 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ERN2_HUMAN, Q76MJ5 (See protein sequence)
Recommended Name: Serine/threonine-protein kinase/endoribonuclease IRE2 precursor  
Size: 926 amino acids; 102480 Da
Cofactor: Magnesium
Sequence caution: Sequence=BAD18455.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: Q6ZNC0

Explore the universe of human proteins at neXtProt for ERN2: NX_Q76MJ5

Explore proteomics data for ERN2 at MOPED

Post-translational modifications: 

  • Autophosphorylated1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • 3 DME Specific Peptides for ERN2 (Q76MJ5)
     VHRDLKP  IVHRDLK  HRDLKPGN 


    See ERN2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_150296.3  
    ENSEMBL proteins: 
     ENSP00000413812   ENSP00000256797   ENSP00000456866   ENSP00000457361   ENSP00000457796  

    ERN2 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for ERN2
    OriGene Custom MassSpec
    OriGene Custom Protein Services for ERN2
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    Novus Biologicals ERN2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ERN2

    ERN2 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for ERN2
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    Novus Biologicals ERN2 Antibodies
    Abcam antibodies for ERN2
    Cloud-Clone Corp. Antibodies for ERN2
    ThermoFisher Antibodies for ERN2
    LSBio Antibodies in human, mouse, rat for ERN2

    ERN2 Assay Products:

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    Cloud-Clone Corp. ELISAs for ERN2
    Cloud-Clone Corp. CLIAs for ERN2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    IUPHAR Guide to PHARMACOLOGY protein family classification: endoplasmic reticulum to nucleus signaling 2
    IRE family

    Selected InterPro protein domains (see all 8):
     IPR011009 Kinase-like_dom
     IPR008271 Ser/Thr_kinase_AS
     IPR000719 Prot_kinase_dom
     IPR006567 PUG-dom
     IPR011047 Quinonprotein_ADH-like_supfam

    Graphical View of Domain Structure for InterPro Entry Q76MJ5

    ProtoNet protein and cluster: Q76MJ5

    3 Blocks protein domains:
    IPB002372 Bacterial quinoprotein
    IPB006567 PUG
    IPB010513 Ribonuclease 2-5A


    UniProtKB/Swiss-Prot: ERN2_HUMAN, Q76MJ5
    Similarity: Belongs to the protein kinase superfamily. Ser/Thr protein kinase family
    Similarity: Contains 1 KEN domain
    Similarity: Contains 1 protein kinase domain


    ERN2 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: ERN2_HUMAN, Q76MJ5
    Function: Induces translational repression through 28S ribosomal RNA cleavage in response to ER stress.
    Pro-apoptotic. Appears to play no role in the unfolded-protein response, unlike closely related proteins
    Catalytic activity: ATP + a protein = ADP + a phosphoprotein
    Enzyme regulation: The kinase domain is activated by trans-autophosphorylation. Kinase activity is required for
    activation of the endoribonuclease domain (By similarity)

         Enzyme Number (IUBMB): EC 2.7.112

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000287magnesium ion binding IDA11175748
    GO:0004519endonuclease activity IDA11175748
    GO:0004540ribonuclease activity IEA--
    GO:0004672protein kinase activity ----
    GO:0004674protein serine/threonine kinase activity IDA11175748
         
    ERN2 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for ERN2:
     Decreased focal adhesion (FA)   Decreased substrate adherent c  Increased cell death HMECs cel  Synthetic lethal with Ras 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ern2):
     digestive/alimentary  immune system 

    ERN2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Ern2tm1Dron for ERN2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ERN2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ERN2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ERN2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ERN2

    miRNA
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    Block miRNA regulation of human, mouse, rat ERN2 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate ERN2:
    hsa-miR-183* hsa-miR-1257 hsa-miR-643
    SwitchGear 3'UTR luciferase reporter plasmidERN2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ERN2
    Predesigned siRNA for gene silencing in human, mouse, rat ERN2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ERN2

    Clone
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    OriGene clones in human, mouse for ERN2 (see all 7)
    OriGene ORF clones in mouse, rat for ERN2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ERN2 (NM_033266)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ERN2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ERN2

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for ERN2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ERN2


    (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
    ERN2_HUMAN, Q76MJ5: Endoplasmic reticulum membrane; Single-pass type I membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    cytosol3
    mitochondrion1
    nucleus1
    peroxisome1
    plasma membrane1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0016021integral component of membrane IEA--

    ERN2 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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        Pathway & Disease-focused RT2 Profiler PCR Arrays including ERN2: 
              Apoptosis 384HT in human mouse rat
              Unfolded Protein Response in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ERN2

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

    Selected Interacting proteins for ERN2 (Q76MJ53 ENSP000002567974) via UniProtKB, MINT, STRING, and/or I2D (see all 112)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SYVN1Q86TM63, ENSP000003663954I2D: score=1 STRING: ENSP00000366395
    WDR45Q9Y4843I2D: score=1 
    UBE2G2ENSP000003383484STRING: ENSP00000338348
    SEC13ENSP000003121224STRING: ENSP00000312122
    ALG5ENSP000002398914STRING: ENSP00000239891
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0006397mRNA processing IEA--
    GO:0006468protein phosphorylation IDA11175748
    GO:0006950response to stress ----

    ERN2 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 ERN2

    3 HMDB Compounds for ERN2    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    MagnesiumMagnesium (see all 2)7439-95-4--



    (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,
    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 ERN2 gene: 
    NM_033266.3  

    Unigene Cluster for ERN2:

    Endoplasmic reticulum to nucleus signaling 2
    Hs.592041  [show with all ESTs]
    Unigene Representative Sequence: NM_033266
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000457008 ENST00000256797(uc002dma.4 uc010bxp.3) ENST00000562458
    ENST00000562562(uc010bxq.1) ENST00000566565 ENST00000561478 ENST00000569903

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat ERN2 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate ERN2:
    hsa-miR-183* hsa-miR-1257 hsa-miR-643
    SwitchGear 3'UTR luciferase reporter plasmidERN2 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for ERN2
    Predesigned siRNA for gene silencing in human, mouse, rat ERN2
    Clone
    Products:
         
    OriGene clones in human, mouse for ERN2 (see all 7)
    OriGene ORF clones in mouse, rat for ERN2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ERN2 (NM_033266)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ERN2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ERN2
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for ERN2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ERN2
      QuantiTect SYBR Green Assays in human, mouse, rat ERN2
      QuantiFast Probe-based Assays in human, mouse, rat ERN2

    Additional mRNA sequence: 

    AK131280.1 AK309313.1 AK310834.1 EF560720.1 EF560739.1 

    9 DOTS entries:

    DT.100811153  DT.97855604  DT.86842239  DT.100811154  DT.65287980  DT.86845585  DT.86846001  DT.100828162 
    DT.448521 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ERN2 (see all 6)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^
    SP1:                                -                                                                 -                                                         
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                  -         
    SP5:                                                                                                                                                            

    ExUns: 23 ^ 24 ^ 25a · 25b
    SP1:                        
    SP2:                        
    SP3:                        
    SP4:                        
    SP5:                        


    ECgene alternative splicing isoforms for ERN2

    (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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    ERN2 expression in normal human tissues (normalized intensities)      ERN2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ERN2 Expression
    About this image


    ERN2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Neural Tube (Nervous System)
             Primitive Spinal Cord
    ERN2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ERN2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.592041
        Pathway & Disease-focused RT2 Profiler PCR Arrays including ERN2: 
              Apoptosis 384HT in human mouse rat
              Unfolded Protein Response in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for ERN2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ERN2
    QuantiTect SYBR Green Assays in human, mouse, rat ERN2
    QuantiFast Probe-based Assays in human, mouse, rat ERN2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ERN2

    (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 and fungi.

    Orthologs for ERN2 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ern21 , 5 endoplasmic reticulum (ER) to nucleus signalling 21, 5 83.15(n)1
    82.78(a)1
      7 (65.53 cM)5
    269181  NM_012016.21  NP_036146.21 
     1221698935 
    chicken
    (Gallus gallus)
    Aves ERN11 endoplasmic reticulum to nucleus signaling 1 67.28(n)
    63.91(a)
      771230  XM_001234522.3  XP_001234523.2 
    lizard
    (Anolis carolinensis)
    Reptilia ERN26
    endoplasmic reticulum to nucleus signaling 2
    54(a)
    1 ↔ 1
    GL344033.1(36169-72844)
    zebrafish
    (Danio rerio)
    Actinopterygii ern26
    endoplasmic reticulum to nucleus signaling 2
    49(a)
    1 ↔ 1
    1(8245891-8271713) ENSDARG00000058475
    fruit fly
    (Drosophila melanogaster)
    Insecta ire-13 protein amino acid phosphorylation
    protein kinase
    50(a)   92B3   --
    worm
    (Caenorhabditis elegans)
    Secernentea ire-13 serine/threonine kinase 38(a)   II(8112592-8124762)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes IRE16
    Serine-threonine kinase and endoribonuclease; tran...
    23(a)
    1 → many
    VIII(258244-261591) YHR079C


    ENSEMBL Gene Tree for ERN2 (if available)
    TreeFam Gene Tree for ERN2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ERN2 gene
    ERN12  
    2 SIMAP similar genes for ERN2 using alignment to 7 protein entries:     ERN2_HUMAN (see all proteins):
    ERN1    STK11

    ERN2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ERN2 (see all 707)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1503803891,2
    C--23702191(+) GCCTCT/CGAGTC 2 /S syn11Minor allele frequency- C:0.00EU 1251
    rs1115912311,2
    C,F--23702217(+) CAGGAA/GGAGGC 2 L F mis12Minor allele frequency- G:0.00CSA NA 4552
    rs561575181,2
    C,F--23702233(+) GAGGCG/ACAGCT 2 /C syn12Minor allele frequency- A:0.00NA EU 5837
    rs561291671,2
    C,F--23702246(+) TCATGG/CCTCGG 2 /A /G mis12Minor allele frequency- C:0.00NA EU 5833
    rs1997818201,2
    --23702249(+) TGGCTC/TGGTGC 2 Q R mis10--------
    rs2016634721,2
    C--23702254(+) CGGTGC/GGTGTG 2 T syn10--------
    rs1387672541,2
    C,F--23702271(+) CAGCCG/ATGGGA 2 /R /W mis12Minor allele frequency- A:0.00NA EU 5867
    rs2000381511,2
    --23702351(+) GCTCCC/TTGTAG 2 K R mis10--------
    rs2005362641,2
    C--23702369(+) TCTGTC/GGGTAG 1 -- int10--------
    rs2001819921,2
    --23702430(+) GGCCCA/GCCCAG 1 -- int10--------

    HapMap Linkage Disequilibrium report for ERN2 (23701625 - 23724821 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for ERN2: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ERN2
    DNA2.0 Custom Variant and Variant Library Synthesis for ERN2

    (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.)
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    OMIM gene information: 604034    OMIM disorders: --


    ERN2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): ERN2
    Human Genome Epidemiology (HuGE) Navigator: ERN2 (4 documents)

    Export disorders for ERN2 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 ERN2 gene, integrated from 10 sources (see all 15):
    (articles sorted by number of sources associating them with ERN2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Translational control by the ER transmembrane kinase/ribonuclease IRE1 under ER stress. (PubMed id 11175748)1, 2, 3 Iwawaki T.... Kohno K. (Nat. Cell Biol. 2001)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. Cloning of mammalian Ire1 reveals diversity in the ER stress responses. (PubMed id 9755171)1, 3 Wang X.Z....Ron D. (EMBO J. 1998)
    6. Direct association of unfolded proteins with mammalian ER stress sensor, IRE1I^. (PubMed id 23236464)1 Oikawa D....Iwawaki T. (PLoS ONE 2012)
    7. Mammalian ER stress sensor IRE1I^ specifically down-regulates the synthesis of secretory pathway proteins. (PubMed id 21146530)1 Nakamura D....Kohno K. (FEBS Lett. 2011)
    8. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (Am. J. Hum. Genet. 2009)
    9. RNase domains determine the functional difference between IRE1alpha and IRE1beta. (PubMed id 18242182)1 Imagawa Y....Kohno K. (FEBS Lett. 2008)
    10. Genome-scale RNAi screen for host factors required for HIV replication. (PubMed id 18976975)1 Zhou H....Espeseth A.S. (amp 2008)

    (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: 10595 HGNC: 16942 Ensembl:ENSG00000134398 euGenes: HUgn10595 ECgene: ERN2
    H-InvDB: ERN2

    (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 ERN2 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 ERN2 gene:
    Search GeneIP for patents involving ERN2

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



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