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PDIA2 Gene

protein-coding   GIFtS: 58
GCID: GC16P000336

Protein Disulfide Isomerase Family A, Member 2

(Previous names: protein disulfide isomerase, pancreatic, protein disulfide...)
(Previous symbol: PDIP)
  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
Protein Disulfide Isomerase Family A, Member 21 2     PDI2
PDIP1 2 3 5     PDIR2
Protein Disulfide Isomerase, Pancreatic1 2     Pancreatic Protein Disulfide Isomerase2
Protein Disulfide Isomerase-Associated 21 2     Protein Disulfide Isomerase A22
Pancreas-Specific Protein Disulfide Isomerase2 3     Protein Disulfide-Isomerase A22
EC 5.3.4.13 8     Rho GDP Dissociation Inhibitor Gamma2
PDA22     PDIp3

External Ids:    HGNC: 141801   Entrez Gene: 647142   Ensembl: ENSG000001856157   OMIM: 6080125   UniProtKB: Q130873   

Export aliases for PDIA2 gene to outside databases

Previous GC identifers: GC16P000274 GC16P000276 GC16P000334 GC16P000251


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PDIA2 Gene:
Protein disulfide isomerases (EC 5.3.4.1), such as PDIP, are endoplasmic reticulum (ER) resident proteins that
catalyze protein folding and thiol-disulfide interchange reactions (Desilva et al., 1996 (PubMed
8561901)).(supplied by OMIM, Mar 2008)

GeneCards Summary for PDIA2 Gene:
PDIA2 (protein disulfide isomerase family A, member 2) is a protein-coding gene. Diseases associated with PDIA2 include brain ischemia, and diphtheria. GO annotations related to this gene include electron carrier activity and steroid binding. An important paralog of this gene is PDIA4.

UniProtKB/Swiss-Prot: PDIA2_HUMAN, Q13087
Function: Acts as an intracellular estrogen-binding protein. May be involved in modulating cellular levels and
biological functions of estrogens in the pancreas. May act as a chaperone that inhibits aggregation of misfolded
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  NC_018927.2  NT_010393.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the PDIA2 gene promoter:
         Lmo2   AP-2gamma   Evi-1   COMP1   AP-2beta   NF-Y   AP-2alpha   AP-2alphaA   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPDIA2 promoter sequence
   Search Chromatin IP Primers for PDIA2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PDIA2


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

Entrez Gene cytogenetic band: 16p13.3   Ensembl cytogenetic band:  16p13.3   HGNC cytogenetic band: 16p13.3

PDIA2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PDIA2 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P000336:  view genomic region     (about GC identifiers)

Start:
333,118 bp from pter      End:
337,215 bp from pter
Size:
4,098 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, 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: PDIA2_HUMAN, Q13087 (See protein sequence)
Recommended Name: Protein disulfide-isomerase A2 precursor  
Size: 525 amino acids; 58206 Da
Subunit: Monomer; predominantly as monomer under reducing conditions. Homodimer; disulfide-linked. Part of a large
chaperone multiprotein complex comprising DNAJB11, HSP90B1, HSPA5, HYOU, PDIA2, PDIA4, PDIA6, PPIB, SDF2L1,
UGT1A1 and very small amounts of ERP29, but not, or at very low levels, CALR nor CANX
Sequence caution: Sequence=AAC50401.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of
unknown origin in the N-terminal part; Sequence=AAH75029.1; Type=Miscellaneous discrepancy; Note=Contaminating
sequence. Sequence of unknown origin in the N-terminal part; Sequence=BAG58339.1; Type=Erroneous initiation;
Note=Translation N-terminally extended;
Secondary accessions: A6ZJ64 B4DI27 Q2WGM4 Q4TT67 Q6B010 Q96KJ6 Q9BW95
Alternative splicing: 2 isoforms:  Q13087-1   Q13087-2   

Explore the universe of human proteins at neXtProt for PDIA2: NX_Q13087

Explore proteomics data for PDIA2 at MOPED

Post-translational modifications: 

  • The disulfide-linked homodimer exhibits an enhanced chaperone activity1
  • Glycosylated1
  • Glycosylation2 at Asn127, Asn284, Asn516
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for PDIA2 (Q13087)
     LVGKNFE  VVLFKKFDEGR 


    See PDIA2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006840.2  
    ENSEMBL proteins: 
     ENSP00000219406   ENSP00000384410   ENSP00000392277   ENSP00000405081  

    PDIA2 Human Recombinant Protein Products:

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    Novus Biologicals PDIA2 Lysate
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for PDIA2

    PDIA2 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    ThermoFisher Antibodies for PDIA2
    LSBio Antibodies in human, mouse, rat for PDIA2

    PDIA2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. CLIAs for PDIA2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PDI: Protein disulfide isomerases

    5 InterPro protein domains:
     IPR005746 Thioredoxin
     IPR012336 Thioredoxin-like_fold
     IPR013766 Thioredoxin_domain
     IPR017937 Thioredoxin_CS
     IPR005792 Prot_disulphide_isomerase

    Graphical View of Domain Structure for InterPro Entry Q13087

    ProtoNet protein and cluster: Q13087

    1 Blocks protein domain: IPB006662 Thioredoxin type domain

    UniProtKB/Swiss-Prot: PDIA2_HUMAN, Q13087
    Similarity: Belongs to the protein disulfide isomerase family
    Similarity: Contains 2 thioredoxin domains


    PDIA2 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: PDIA2_HUMAN, Q13087
    Function: Acts as an intracellular estrogen-binding protein. May be involved in modulating cellular levels and
    biological functions of estrogens in the pancreas. May act as a chaperone that inhibits aggregation of misfolded
    proteins
    Catalytic activity: Catalyzes the rearrangement of -S-S- bonds in proteins

         Enzyme Number (IUBMB): EC 5.3.4.11 2

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003756protein disulfide isomerase activity IBA--
    GO:0005496steroid binding IEA--
    GO:0005515protein binding IPI17474147
    GO:0015035protein disulfide oxidoreductase activity IEA--
    GO:0016209antioxidant activity ----
         
    PDIA2 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PDIA2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PDIA2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PDIA2

    miRNA
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    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: PDIA2 (NM_006849)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PDIA2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PDIA2

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PDIA2


    (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
    PDIA2_HUMAN, Q13087: Endoplasmic reticulum lumen (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum4
    extracellular2
    golgi apparatus1
    lysosome1
    mitochondrion1
    peroxisome1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum IBA--
    GO:0005788endoplasmic reticulum lumen IEA--

    PDIA2 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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    SuperPaths for PDIA2 About    
    See pathways by source

    SuperPathContained pathways About
    1Statin Pathway
    Statin Pathway0.73


    1 BioSystems Pathway for PDIA2
        Statin Pathway


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PDIA2
    Interactions:

        Search GeneGlobe Interaction Network for PDIA2

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

    Selected Interacting proteins for PDIA2 (Q130871, 2, 3 ENSP000002194064) via UniProtKB, MINT, STRING, and/or I2D (see all 64)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CALRP277972, 3, ENSP000003208664MINT-8401737 I2D: score=2 STRING: ENSP00000320866
    NCK1P163331, 3, ENSP000002889864EBI-1752525,EBI-389883 I2D: score=1 STRING: ENSP00000288986
    GAPDHP044063, ENSP000002292394I2D: score=2 STRING: ENSP00000229239
    ABL1P005193, ENSP000003614234I2D: score=1 STRING: ENSP00000361423
    AMFRQ9UKV53, ENSP000002906494I2D: score=1 STRING: ENSP00000290649
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006457protein folding IBA--
    GO:0006621protein retention in ER lumen TAS8561901
    GO:0006662glycerol ether metabolic process IEA--
    GO:0034976response to endoplasmic reticulum stress IBA--
    GO:0045454cell redox homeostasis IEA--

    PDIA2 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 PDIA2

    Selected Novoseek inferred chemical compound relationships for PDIA2 gene (see all 18)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dtnb 59.9 3 10912786 (1), 19564574 (1)
    cystamine 59.9 8 18618447 (4), 7516709 (2)
    gssg 57.1 18 1988050 (5), 8307992 (2), 1988051 (2), 8688495 (1) (see all 6)
    dithiol 54.9 3 1988050 (1), 10734129 (1)
    cysteine 43.8 16 7516709 (3), 8307992 (3), 14871477 (2), 8902616 (2) (see all 8)
    dithiothreitol 30.3 4 11968009 (3)
    nadph 19.8 11 19564574 (5), 19925454 (1), 19388824 (1), 15081871 (1)
    h2o2 13.9 2 11795901 (1)
    fibrinogen 9.56 1 11352743 (1)
    sulfur 8.51 4 10734129 (2), 8307992 (1)



    PDIA2 for compounds           About GeneDecksing



    (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 PDIA2 gene: 
    NM_006849.2  

    Unigene Cluster for PDIA2:

    Protein disulfide isomerase family A, member 2
    Hs.66581  [show with all ESTs]
    Unigene Representative Sequence: NM_006849
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000219406(uc002cgn.1 uc002cgo.1) ENST00000467212(uc010bqt.1)
    ENST00000404312 ENST00000456379 ENST00000482665 ENST00000462950 ENST00000435833

    miRNA
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    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for PDIA2
    Predesigned siRNA for gene silencing in human, mouse, rat PDIA2
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PDIA2 (NM_006849)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PDIA2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PDIA2
    Primer
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    OriGene qPCR primer pairs and template standards for PDIA2
    OriGene qSTAR qPCR primer pairs in human, mouse for PDIA2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PDIA2
      QuantiTect SYBR Green Assays in human, mouse, rat PDIA2
      QuantiFast Probe-based Assays in human, mouse, rat PDIA2

    Additional mRNA sequence: 

    AK075485.1 AK295383.1 AK308516.1 BC000537.2 BC027964.1 BC075029.2 U19948.1 

    6 DOTS entries:

    DT.105057  DT.101978822  DT.120711847  DT.100017093  DT.99949763  DT.120711886 

    Selected AceView cDNA sequences (see all 60):

    BC000537 BC027964 AI369830 AF498928 CB152066 AW135368 AK124931 BM691552 
    NM_001176 AI041729 CB152764 BI834460 BM709619 AA324789 AK075485 BM126625 
    BM126892 U82532 CK906330 CK906329 Z84717 BC047699 CB565893 H21176 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for PDIA2    About this scheme

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


    ECgene alternative splicing isoforms for PDIA2

    (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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    PDIA2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGTCCTCAA
    PDIA2 Expression
    About this image


    PDIA2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Epithelial Cells
             Duct Cells Pancreatic Ducts
     
     Pancreas (Endocrine System)
             Duct Cells Pancreatic Ducts
     
     Blood (Hematopoietic System)
             Proerythroblasts Hematopoietic Bone Marrow
     
     Eye (Sensory Organs)
             Lens
    PDIA2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PDIA2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.66581

    UniProtKB/Swiss-Prot: PDIA2_HUMAN, Q13087
    Tissue specificity: Highly expressed in pancreas (at protein level)

        Custom PCR Arrays for PDIA2
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PDIA2
    QuantiTect SYBR Green Assays in human, mouse, rat PDIA2
    QuantiFast Probe-based Assays in human, mouse, rat PDIA2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PDIA2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for PDIA2 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pdia21 , 5 protein disulfide isomerase associated 21, 5 80.26(n)1
    79.92(a)1
      17 (13.07 cM)5
    691911  NM_001081070.11  NP_001074539.11 
     261959995 
    chicken
    (Gallus gallus)
    Aves LOC1008578971 protein disulfide-isomerase A2-like 67.33(n)
    57.36(a)
      100857897  XM_003642154.2  XP_003642202.2 
    lizard
    (Anolis carolinensis)
    Reptilia PDIA26
    protein disulfide isomerase family A, member 2
    44(a)
    1 ↔ 1
    GL344563.1(23219-26733)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.88232 Transcribed sequence with weak similarity to protein prf2206317A (H.sapiens) 2206317A protein SS isomerase [Homo sapiens] less 72.39(n)    CF591301.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC045330.12   -- 78.11(n)   394023  BC045330.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Pdi6
    Protein disulfide isomerase
    40(a)
    1 → many
    3L(15130838-15135692)
    worm
    (Caenorhabditis elegans)
    Secernentea pdi-26
    pdi-16
    (see all 3)
    Protein PDI-1 (pdi-1) mRNA, complete cds
    (see all 3)
    42(a)
    34(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    X(4524187-4526536) WBGene00003963
    III(3699719-3701476) WBGene00003962


    ENSEMBL Gene Tree for PDIA2 (if available)
    TreeFam Gene Tree for PDIA2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PDIA2 gene
    PDIA42  ERP272  TMX32  P4HB2  ERP442  PDIA32  PDILT2  
    5 SIMAP similar genes for PDIA2 using alignment to 5 protein entries:     PDIA2_HUMAN (see all proteins):
    P4HB    PDIA3    PDILT    ERP27    PDIA6

    PDIA2 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)
    About This Section

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    Selected SNPs for PDIA2 (see all 287)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1807196931,2
    --333508(+) CCCAGG/TAGCTC 1 -- int10--------
    rs1845647111,2
    --333604(+) TGCCTC/TCCTGC 1 -- int10--------
    rs788369591,2
    C,F--333612(+) TGCTCG/AGCCAG 1 -- int11Minor allele frequency- A:0.03WA 118
    rs1446035881,2
    --333625(+) GCCACA/GGTGCC 1 -- int10--------
    rs1478846031,2
    --333626(+) CCACGA/GTGCCA 1 -- int10--------
    rs454529911,2
    C,F--333697(+) GGCTCG/AGGCAG 1 -- int14Minor allele frequency- A:0.05NS WA 210
    rs1415660351,2
    --333725(+) CCCATA/GGAGGT 1 -- int10--------
    rs1149262671,2
    C,F--333760(+) TTTTCA/G/TCAACC 1 -- int11WA 118
    rs772236821,2
    C,F--333842(+) CCATAC/AAAGGC 1 -- int11Minor allele frequency- A:0.02EA 120
    rs4277911,2
    --333863(+) GGGGTA/Cttttt 1 -- int10--------

    HapMap Linkage Disequilibrium report for PDIA2 (333118 - 337215 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for PDIA2 (see all 15):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2422427CNV Duplication17116639
    nsv904690CNV Loss21882294
    nsv904674CNV Loss21882294
    dgv2465n71CNV Loss21882294
    dgv2471n71CNV Loss21882294
    dgv2470n71CNV Loss21882294
    nsv904677CNV Loss21882294
    dgv2458n71CNV Loss21882294
    dgv2469n71CNV Loss21882294
    dgv32n68CNV Loss17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PDIA2
    DNA2.0 Custom Variant and Variant Library Synthesis for PDIA2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608012    OMIM disorders: --

    15 diseases for PDIA2:    
    About MalaCards
    brain ischemia    diphtheria    ischemia    protein s deficiency
    pancreatitis    hypoxia    cholera    hyperglycemia
    alzheimer's disease    hiv-1    insulin resistance    parkinson's disease
    endotheliitis    adenocarcinoma    neuronitis


    PDIA2 for disorders           About GeneDecksing

    10 Novoseek inferred disease relationships for PDIA2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hypoxia ischemia brain 69.4 1 15147878 (1)
    neurodegeneration 17.5 2 15353226 (1)
    neurodegenerative diseases 15.9 4 16724068 (2), 12453628 (1)
    diphtheria 13.3 1 9020187 (1)
    immunodeficiency 7.07 2 11181151 (1)
    tumors 1.7 1 8561901 (1)
    ischemia 0 8 15670653 (3), 10744727 (1)
    shock 0 1 15952740 (1)
    hiv infections 0 1 17301129 (1)
    alzheimers disease 0 2 12453628 (1), 16724068 (1)

    Genetic Association Database (GAD): PDIA2
    Human Genome Epidemiology (HuGE) Navigator: PDIA2 (4 documents)

    Export disorders for PDIA2 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 PDIA2 gene, integrated from 10 sources (see all 201):
    (articles sorted by number of sources associating them with PDIA2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization and chromosomal localization of a new protein disulfide isomerase, PDIp, highly expressed in human pancreas. (PubMed id 8561901)1, 2, 3, 9 Desilva M.G....Lan M.S. (DNA Cell Biol. 1996)
    2. Human pancreas-specific protein disulfide isomerase homolog (PDIp) is an intracellular estrogen-binding protein that modulates estrogen levels and actions in target cells. (PubMed id 19429457)1, 2, 9 Fu X.M. and Zhu B.T. (J. Steroid Biochem. Mol. Biol. 2009)
    3. Human pancreas-specific protein disulfide isomerase homolog (PDIp) is redox-regulated through formation of an inter-subunit disulfide bond. (PubMed id 19150607)1, 2, 9 Fu X. and Zhu B.T. (Arch. Biochem. Biophys. 2009)
    4. N-linked glycosylation modulates dimerization of protein disulfide isomerase family A member 2 (PDIA2). (PubMed id 23167757)1, 2 Walker A.K.... Atkin J.D. (FEBS J. 2013)
    5. 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)
    6. Application of gene network analysis techniques identifies AXIN1/PDIA2 and endoglin haplotypes associated with bicuspid aortic valve. (PubMed id 20098615)1, 4 Wooten E.C....Huggins G.S. (PLoS ONE 2010)
    7. 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)
    8. Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. (PubMed id 11157797)1, 2 Daniels R.J....Higgs D.R. (Hum. Mol. Genet. 2001)
    9. Molecular characterization of a pancreas-specific protein disulfide isomerase, PDIp. (PubMed id 9115635)2, 9 Desilva M.G.... Lan M.S. (DNA Cell Biol. 1997)
    10. Pancreas-specific protein disulfide isomerase has a cell type-specific expression in various mouse tissues and is absent in human pancreatic adenocarcinoma cells: implications for its functions. (PubMed id 19821078)1, 9 Fu X.M....Zhu B.T. (J. Mol. Histol. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 64714 HGNC: 14180 AceView: ARHGDIG Ensembl:ENSG00000185615 euGenes: HUgn64714
    ECgene: PDIA2 H-InvDB: PDIA2

    (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 PDIA2 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 PDIA2 gene:
    Search GeneIP for patents involving PDIA2

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



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