Human Gene PDIA2 (ENST00000219406.11) from GENCODE V44
  Description: Homo sapiens protein disulfide isomerase family A member 2 (PDIA2), mRNA. (from RefSeq NM_006849)
RefSeq Summary (NM_006849): This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, two catalytically active thioredoxin (TRX) domains, two TRX-like domains and a C-terminal ER-retention sequence. The protein plays a role in the folding of nascent proteins in the endoplasmic reticulum by forming disulfide bonds through its thiol isomerase, oxidase, and reductase activity. The encoded protein also possesses estradiol-binding activity and can modulate intracellular estradiol levels. [provided by RefSeq, Sep 2017]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments.
Gencode Transcript: ENST00000219406.11
Gencode Gene: ENSG00000185615.16
Transcript (Including UTRs)
   Position: hg38 chr16:283,164-287,215 Size: 4,052 Total Exon Count: 11 Strand: +
Coding Region
   Position: hg38 chr16:283,170-287,113 Size: 3,944 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:283,164-287,215)mRNA (may differ from genome)Protein (525 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
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HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PDIA2_HUMAN
DESCRIPTION: RecName: Full=Protein disulfide-isomerase A2; EC=5.3.4.1; AltName: Full=Pancreas-specific protein disulfide isomerase; Short=PDIp; Flags: Precursor;
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.
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.
INTERACTION: P16333:NCK1; NbExp=3; IntAct=EBI-1752525, EBI-389883;
SUBCELLULAR LOCATION: Endoplasmic reticulum lumen (By similarity).
TISSUE SPECIFICITY: Highly expressed in pancreas (at protein level).
PTM: The disulfide-linked homodimer exhibits an enhanced chaperone activity.
PTM: Glycosylated.
SIMILARITY: Belongs to the protein disulfide isomerase family.
SIMILARITY: Contains 2 thioredoxin domains.
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;

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PDIA2
Diseases sorted by gene-association score: alpha thalassemia-intellectual disability syndrome type 1 (9), multiple sulfatase deficiency (7), trichinosis (5)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 602.27 RPKM in Pancreas
Total median expression: 1356.91 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -24.90102-0.244 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR005792 - Prot_disulphide_isomerase
IPR005746 - Thioredoxin
IPR012336 - Thioredoxin-like_fold
IPR017937 - Thioredoxin_CS
IPR013766 - Thioredoxin_domain

Pfam Domains:
PF00085 - Thioredoxin

ModBase Predicted Comparative 3D Structure on Q13087
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003756 protein disulfide isomerase activity
GO:0005496 steroid binding
GO:0005515 protein binding
GO:0008289 lipid binding
GO:0015036 disulfide oxidoreductase activity
GO:0015037 peptide disulfide oxidoreductase activity
GO:0016853 isomerase activity
GO:0031545 peptidyl-proline 4-dioxygenase activity

Biological Process:
GO:0006457 protein folding
GO:0006621 protein retention in ER lumen
GO:0019511 peptidyl-proline hydroxylation
GO:0034975 protein folding in endoplasmic reticulum
GO:0034976 response to endoplasmic reticulum stress
GO:0045454 cell redox homeostasis
GO:0055114 oxidation-reduction process
GO:1902175 regulation of oxidative stress-induced intrinsic apoptotic signaling pathway

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005788 endoplasmic reticulum lumen


-  Descriptions from all associated GenBank mRNAs
  AB127078 - Homo sapiens ARHGDIG, PDIP polycistronic mRNA for Rho GDP dissociation inhibitor gamma, pancreatic protein disulfide isomerase, complete cds.
AK075485 - Homo sapiens cDNA PSEC0179 fis, clone OVARC1001209, highly similar to Protein disulfide-isomerase A2 precursor (EC 5.3.4.1).
AK124931 - Homo sapiens cDNA FLJ42941 fis, clone BRSTN2000872, highly similar to Protein disulfide-isomerase A2 precursor (EC 5.3.4.1).
BC167826 - Synthetic construct Homo sapiens clone IMAGE:100068216, MGC:195833 protein disulfide isomerase family A, member 2 (PDIA2) mRNA, encodes complete protein.
BC027964 - Homo sapiens protein disulfide isomerase family A, member 2, mRNA (cDNA clone IMAGE:5222796).
JD117890 - Sequence 98914 from Patent EP1572962.
JD290801 - Sequence 271825 from Patent EP1572962.
BC000537 - Homo sapiens protein disulfide isomerase family A, member 2, mRNA (cDNA clone IMAGE:3162384), partial cds.
JD136034 - Sequence 117058 from Patent EP1572962.
JD224747 - Sequence 205771 from Patent EP1572962.
JD060229 - Sequence 41253 from Patent EP1572962.
AK308516 - Homo sapiens cDNA, FLJ98557.
JD424094 - Sequence 405118 from Patent EP1572962.
BC075029 - Homo sapiens protein disulfide isomerase family A, member 2, mRNA (cDNA clone IMAGE:30915416), partial cds.
U19948 - Human protein disulfide isomerase (PDIp) mRNA, complete cds.
AK295383 - Homo sapiens cDNA FLJ60552 complete cds, highly similar to Protein disulfide-isomerase A2 precursor (EC5.3.4.1).
JD390671 - Sequence 371695 from Patent EP1572962.
JD448887 - Sequence 429911 from Patent EP1572962.
JD069245 - Sequence 50269 from Patent EP1572962.
JD392791 - Sequence 373815 from Patent EP1572962.
Z84717 - Human DNA sequence from cDNA 16pHQG;19 from chromosome 16p13.3.
JD493180 - Sequence 474204 from Patent EP1572962.
JD471138 - Sequence 452162 from Patent EP1572962.
JD124714 - Sequence 105738 from Patent EP1572962.
JD455913 - Sequence 436937 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A6ZJ64, B4DI27, ENST00000219406.1, ENST00000219406.10, ENST00000219406.2, ENST00000219406.3, ENST00000219406.4, ENST00000219406.5, ENST00000219406.6, ENST00000219406.7, ENST00000219406.8, ENST00000219406.9, NM_006849, PDIA2_HUMAN, PDIP, Q13087, Q2WGM4, Q4TT67, Q6B010, Q96KJ6, Q9BW95, uc002cgo.1, uc002cgo.2, uc002cgo.3
UCSC ID: ENST00000219406.11
RefSeq Accession: NM_006849
Protein: Q13087 (aka PDIA2_HUMAN)
CCDS: CCDS42089.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.