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Aliases for PDIA2 Gene

Aliases for PDIA2 Gene

  • Protein Disulfide Isomerase Family A Member 2 2 3 5
  • Pancreas-Specific Protein Disulfide Isomerase 3 4
  • Protein Disulfide Isomerase-Associated 2 2 3
  • Protein Disulfide Isomerase, Pancreatic 2 3
  • EC 5.3.4.1 4 56
  • PDIP 3 4
  • Protein Disulfide Isomerase Family A, Member 2 2
  • Pancreatic Protein Disulfide Isomerase 3
  • Rho GDP Dissociation Inhibitor Gamma 3
  • Protein Disulfide-Isomerase A2 3
  • PDA2 3
  • PDIR 3
  • PDI 3

External Ids for PDIA2 Gene

Previous HGNC Symbols for PDIA2 Gene

  • PDIP

Previous GeneCards Identifiers for PDIA2 Gene

  • GC16P000274
  • GC16P000276
  • GC16P000334
  • GC16P000251
  • GC16P000336
  • GC16P000314
  • GC16P000315
  • GC16P000325
  • GC16P000346
  • GC16P000360
  • GC16P000399
  • GC16P000420

Summaries for PDIA2 Gene

Entrez Gene Summary for PDIA2 Gene

  • 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]

GeneCards Summary for PDIA2 Gene

PDIA2 (Protein Disulfide Isomerase Family A Member 2) is a Protein Coding gene. Diseases associated with PDIA2 include Alpha Thalassemia-Intellectual Disability Syndrome Type 1 and Multiple Sulfatase Deficiency. Among its related pathways are Statin Pathway. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and steroid binding. An important paralog of this gene is P4HB.

UniProtKB/Swiss-Prot for PDIA2 Gene

  • 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.

Additional gene information for PDIA2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PDIA2 Gene

Genomics for PDIA2 Gene

GeneHancer (GH) Regulatory Elements for PDIA2 Gene

Promoters and enhancers for PDIA2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16I000283 Promoter 0.6 EPDnew 563.6 +0.0 27 0.1 KLF1 PDIA2 ARHGDIG GC16P000477
GH16I000323 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 9.2 +43.3 43314 5.3 PKNOX1 CLOCK ARNT NEUROD1 SIN3A FEZF1 ZNF2 YY1 ZNF766 ZNF213 LUC7L WDR90 ENSG00000228779 RHOT2 UBE2I ENSG00000261505 WDR24 JMJD8 ENSG00000262528 TMEM8A
GH16I000278 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 8.2 -2.8 -2780 3 PKNOX1 GLIS2 ZNF350 FOS RUNX3 PHF21A NFYA NFYC REST ZEB2 ARHGDIG AXIN1 WASH4P RHOT2 ENSG00000268836 PDIA2 RGS11 DDX11L10 MRPL28 HBZ
GH16I000342 Enhancer 0.9 ENCODE 4.8 +59.7 59677 1.3 FOXA2 MLX ARID4B DMAP1 RAD21 ZNF48 ZSCAN9 RARA SLC30A9 THAP11 HBM HBZ FAM234A LOC100129478 LUC7L MRPL28 TMEM8A ARHGDIG PDIA2 PIR38678
GH16I000270 Enhancer 0.2 dbSUPER 4.9 -12.1 -12121 1.7 ARHGDIG PDIA2 GC16M000274 GC16M000275 RGS11
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PDIA2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PDIA2 gene promoter:

Genomic Locations for PDIA2 Gene

Genomic Locations for PDIA2 Gene
chr16:283,118-287,215
(GRCh38/hg38)
Size:
4,098 bases
Orientation:
Plus strand
chr16:333,118-337,215
(GRCh37/hg19)

Genomic View for PDIA2 Gene

Genes around PDIA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PDIA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PDIA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PDIA2 Gene

Proteins for PDIA2 Gene

  • Protein details for PDIA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13087-PDIA2_HUMAN
    Recommended name:
    Protein disulfide-isomerase A2
    Protein Accession:
    Q13087
    Secondary Accessions:
    • A6ZJ64
    • B4DI27
    • Q2WGM4
    • Q4TT67
    • Q6B010
    • Q96KJ6
    • Q9BW95

    Protein attributes for PDIA2 Gene

    Size:
    525 amino acids
    Molecular mass:
    58206 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=AAC50401.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305}; Sequence=AAH75029.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305}; Sequence=BAG58339.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for PDIA2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PDIA2 Gene

Selected DME Specific Peptides for PDIA2 Gene

Q13087:
  • LVGKNFE
  • VVLFKKFDEGR

Post-translational modifications for PDIA2 Gene

Other Protein References for PDIA2 Gene

Domains & Families for PDIA2 Gene

Gene Families for PDIA2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted secreted proteins

Graphical View of Domain Structure for InterPro Entry

Q13087

UniProtKB/Swiss-Prot:

PDIA2_HUMAN :
  • Belongs to the protein disulfide isomerase family.
Family:
  • Belongs to the protein disulfide isomerase family.
genes like me logo Genes that share domains with PDIA2: view

Function for PDIA2 Gene

Molecular function for PDIA2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Catalyzes the rearrangement of -S-S- bonds in proteins.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for PDIA2 Gene

Phenotypes From GWAS Catalog for PDIA2 Gene

Gene Ontology (GO) - Molecular Function for PDIA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003756 protein disulfide isomerase activity IBA --
GO:0005496 steroid binding IEA --
GO:0005515 protein binding IPI 17474147
GO:0008289 lipid binding IEA --
GO:0015036 disulfide oxidoreductase activity TAS 22013210
genes like me logo Genes that share ontologies with PDIA2: view

Phenotypes for PDIA2 Gene

GenomeRNAi human phenotypes for PDIA2:
genes like me logo Genes that share phenotypes with PDIA2: view

Animal Model Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for PDIA2 Gene

Localization for PDIA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PDIA2 Gene

Endoplasmic reticulum lumen.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PDIA2 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 2
mitochondrion 1
peroxisome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PDIA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005783 endoplasmic reticulum TAS 8561901
GO:0005788 endoplasmic reticulum lumen IEA --
genes like me logo Genes that share ontologies with PDIA2: view

Pathways & Interactions for PDIA2 Gene

SuperPathways for PDIA2 Gene

SuperPathway Contained pathways
1 Statin Pathway
genes like me logo Genes that share pathways with PDIA2: view

Pathways by source for PDIA2 Gene

1 BioSystems pathway for PDIA2 Gene

Gene Ontology (GO) - Biological Process for PDIA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006457 protein folding TAS 8561901
GO:0006621 protein retention in ER lumen TAS 8561901
GO:0019511 peptidyl-proline hydroxylation IEA --
GO:0034975 protein folding in endoplasmic reticulum TAS 22013210
GO:0034976 response to endoplasmic reticulum stress IBA --
genes like me logo Genes that share ontologies with PDIA2: view

No data available for SIGNOR curated interactions for PDIA2 Gene

Drugs & Compounds for PDIA2 Gene

(7) Drugs for PDIA2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(11) Additional Compounds for PDIA2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PDIA2: view

Transcripts for PDIA2 Gene

Unigene Clusters for PDIA2 Gene

Protein disulfide isomerase family A, member 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PDIA2 Gene

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:

Relevant External Links for PDIA2 Gene

GeneLoc Exon Structure for
PDIA2
ECgene alternative splicing isoforms for
PDIA2

Expression for PDIA2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PDIA2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PDIA2 Gene

This gene is overexpressed in Pancreas (x30.4), Brain - Cerebellum (x6.0), and Brain - Cerebellar Hemisphere (x5.0).

Protein differential expression in normal tissues from HIPED for PDIA2 Gene

This gene is overexpressed in Pancreas (63.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PDIA2 Gene



NURSA nuclear receptor signaling pathways regulating expression of PDIA2 Gene:

PDIA2

SOURCE GeneReport for Unigene cluster for PDIA2 Gene:

Hs.66581

mRNA Expression by UniProt/SwissProt for PDIA2 Gene:

Q13087-PDIA2_HUMAN
Tissue specificity: Highly expressed in pancreas (at protein level).

Evidence on tissue expression from TISSUES for PDIA2 Gene

  • Pancreas(4.7)
  • Nervous system(4.5)
  • Liver(2.5)
  • Blood(2.4)
  • Adrenal gland(2.1)
  • Eye(2.1)
  • Lung(2)
  • Stomach(2)
genes like me logo Genes that share expression patterns with PDIA2: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PDIA2 Gene

Orthologs for PDIA2 Gene

This gene was present in the common ancestor of animals.

Orthologs for PDIA2 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia PDIA2 33 34
  • 84.44 (n)
cow
(Bos Taurus)
Mammalia PDIA2 33 34
  • 83.99 (n)
rat
(Rattus norvegicus)
Mammalia Pdia2 33
  • 80.88 (n)
mouse
(Mus musculus)
Mammalia Pdia2 33 16 34
  • 80.26 (n)
oppossum
(Monodelphis domestica)
Mammalia PDIA2 34
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC100857897 33
  • 67.33 (n)
PDIA2 34
  • 53 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PDIA2 34
  • 44 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pdia2 33
  • 60.13 (n)
Str.8823 33
zebrafish
(Danio rerio)
Actinopterygii pdia2 34
  • 44 (a)
OneToOne
-- 33
fruit fly
(Drosophila melanogaster)
Insecta Pdi 34
  • 40 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea pdi-2 34
  • 42 (a)
ManyToMany
pdi-1 34
  • 34 (a)
ManyToMany
M04D5.1 34
  • 21 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11000 34
  • 39 (a)
OneToMany
Species where no ortholog for PDIA2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PDIA2 Gene

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

Paralogs for PDIA2 Gene

Paralogs for PDIA2 Gene

(5) SIMAP similar genes for PDIA2 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with PDIA2: view

Variants for PDIA2 Gene

Sequence variations from dbSNP and Humsavar for PDIA2 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1000753876 -- 286,714(+) C/T coding_sequence_variant, synonymous_variant
rs1001017192 -- 282,190(+) G/A upstream_transcript_variant
rs1001040478 -- 283,963(+) C/A intron_variant
rs1001384375 -- 284,228(+) G/A intron_variant
rs1001436720 -- 284,110(+) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PDIA2 Gene

Variant ID Type Subtype PubMed ID
nsv952896 CNV deletion 24416366
nsv827477 CNV gain 20364138
nsv570952 CNV loss 21841781
nsv570951 CNV loss 21841781
nsv570949 CNV loss 21841781
nsv570947 CNV loss 21841781
esv3637563 CNV gain 21293372
esv2422427 CNV duplication 17116639
dgv4808n54 CNV loss 21841781
dgv32n68 CNV loss 17160897

Variation tolerance for PDIA2 Gene

Residual Variation Intolerance Score: 99.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.50; 91.09% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PDIA2 Gene

Human Gene Mutation Database (HGMD)
PDIA2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PDIA2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PDIA2 Gene

Disorders for PDIA2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for PDIA2 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
alpha thalassemia-intellectual disability syndrome type 1
  • alpha-thalassemia/mental retardation syndrome, deletion-type
multiple sulfatase deficiency
  • msd
patent ductus arteriosus 1
  • pda1
- elite association - COSMIC cancer census association via MalaCards
Search PDIA2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PDIA2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PDIA2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PDIA2 Gene

Publications for PDIA2 Gene

  1. Characterization and chromosomal localization of a new protein disulfide isomerase, PDIp, highly expressed in human pancreas. (PMID: 8561901) Desilva MG … Lan MS (DNA and cell biology 1996) 2 3 4 22 58
  2. Human pancreas-specific protein disulfide isomerase homolog (PDIp) is an intracellular estrogen-binding protein that modulates estrogen levels and actions in target cells. (PMID: 19429457) Fu XM … Zhu BT (The Journal of steroid biochemistry and molecular biology 2009) 3 4 22 58
  3. N-linked glycosylation modulates dimerization of protein disulfide isomerase family A member 2 (PDIA2). (PMID: 23167757) Walker AK … Atkin JD (The FEBS journal 2013) 3 4 58
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
  5. Snapshot of the interaction between HIV envelope glycoprotein 120 and protein disulfide isomerase. (PMID: 20458450) Wang Z … Chi CW (Acta biochimica et biophysica Sinica 2010) 3 22 58

Products for PDIA2 Gene

Sources for PDIA2 Gene

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