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Aliases for PDIA2 Gene

Aliases for PDIA2 Gene

  • Protein Disulfide Isomerase Family A, Member 2 2 3
  • PDIP 3 4 6
  • 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 63
  • Pancreatic Protein Disulfide Isomerase 3
  • Rho GDP Dissociation Inhibitor Gamma 3
  • Protein Disulfide Isomerase A2 3
  • Protein Disulfide-Isomerase A2 3
  • PDIR 3
  • PDA2 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

Summaries for PDIA2 Gene

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 multiple sulfatase deficiency. Among its related pathways are Statin Pathway. GO annotations related to this gene include electron carrier activity and steroid binding. An important paralog of this gene is PDIA3.

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.

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

Genomics for PDIA2 Gene

Regulatory Elements for PDIA2 Gene

Genomic Location for PDIA2 Gene

Start:
283,118 bp from pter
End:
287,215 bp from pter
Size:
4,098 bases
Orientation:
Plus strand

Genomic View for PDIA2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for PDIA2 Gene at MOPED

Selected DME Specific Peptides for PDIA2 Gene

Post-translational modifications for PDIA2 Gene

Other Protein References for PDIA2 Gene

Domains for PDIA2 Gene

Gene Families for PDIA2 Gene

HGNC:
  • PDI :Protein disulfide isomerases

Graphical View of Domain Structure for InterPro Entry

Q13087

UniProtKB/Swiss-Prot:

PDIA2_HUMAN :
  • Q13087
Domain:
  • Contains 2 thioredoxin domains.
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

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:0015036 disulfide oxidoreductase activity TAS 22013210
GO:0016209 antioxidant activity --
genes like me logo Genes that share ontologies with PDIA2: view

No data available for Phenotypes , Animal Models , miRNA , Transcription Factor Targeting 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
Jensen Localization Image for PDIA2 Gene COMPARTMENTS Subcellular localization image for PDIA2 gene
Compartment Confidence
endoplasmic reticulum 4
extracellular 2
golgi apparatus 1
lysosome 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for PDIA2 Gene

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

Pathways for PDIA2 Gene

SuperPathways for PDIA2 Gene

Superpath 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 IBA --
GO:0006621 protein retention in ER lumen TAS 8561901
GO:0008152 metabolic process --
GO:0019511 peptidyl-proline hydroxylation IBA --
GO:0034975 protein folding in endoplasmic reticulum TAS 22013210
genes like me logo Genes that share ontologies with PDIA2: view

Compounds for PDIA2 Gene

(18) Novoseek inferred chemical compound relationships for PDIA2 Gene

Compound -log(P) Hits PubMed IDs
dtnb 59.9 2
cystamine 59.9 6
gssg 57.1 12
dithiol 54.9 2
cysteine 43.8 14
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:

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 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 (30.4), Brain - Cerebellum (6.0), and Brain - Cerebellar Hemisphere (5.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PDIA2 Gene

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).
genes like me logo Genes that share expressions with PDIA2: view

Orthologs for PDIA2 Gene

This gene was present in the common ancestor of animals.

Orthologs for PDIA2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PDIA2 35
  • 83.99 (n)
  • 82.05 (a)
PDIA2 36
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PDIA2 35
  • 84.44 (n)
  • 82.85 (a)
PDIA2 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pdia2 35
  • 80.26 (n)
  • 79.92 (a)
Pdia2 16
Pdia2 36
  • 78 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PDIA2 36
  • 70 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pdia2 35
  • 80.88 (n)
  • 81.16 (a)
chicken
(Gallus gallus)
Aves LOC100857897 35
  • 67.33 (n)
  • 57.36 (a)
PDIA2 36
  • 53 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PDIA2 36
  • 44 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pdia2 35
  • 60.13 (n)
  • 53.08 (a)
Str.8823 35
zebrafish
(Danio rerio)
Actinopterygii -- 35
pdia2 36
  • 44 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Pdi 36
  • 40 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea M04D5.1 36
  • 21 (a)
ManyToMany
pdi-1 36
  • 34 (a)
ManyToMany
pdi-2 36
  • 42 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11000 36
  • 39 (a)
OneToMany
Species with no ortholog for PDIA2:
  • 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

Selected 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 Sequence Context AA Info Type MAF
rs400037 - 286,396(-) CTGGC(C/T)GCTGA missense, reference
rs419949 - 284,890(+) AGGAC(A/G)AGGAC missense, reference
rs427791 -- 283,863(+) GGGGT(A/C)ttttt intron-variant
rs432925 -- 284,580(+) CACCC(C/G)GAGGA synonymous-codon, reference
rs520761 -- 286,229(-) CTGTG(G/T)GGGGG intron-variant

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

Variant ID Type Subtype PubMed ID
esv2422427 CNV Duplication 17116639
dgv2458n71 CNV Loss 21882294
nsv904652 CNV Loss 21882294
dgv32n68 CNV Loss 17160897
dgv2465n71 CNV Loss 21882294
dgv2466n71 CNV Loss 21882294
nsv904674 CNV Loss 21882294
nsv827477 CNV Gain 20364138
dgv2467n71 CNV Loss 21882294
nsv904677 CNV Loss 21882294
dgv2468n71 CNV Loss 21882294
dgv2469n71 CNV Loss 21882294
dgv2470n71 CNV Loss 21882294
nsv904690 CNV Loss 21882294
dgv2471n71 CNV Loss 21882294

Relevant External Links for PDIA2 Gene

HapMap Linkage Disequilibrium report
PDIA2

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

Disorders for PDIA2 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for PDIA2 Gene including...

Search for PDIA2 Gene in MalaCards »

(10) Novoseek inferred disease relationships for PDIA2 Gene

Disease -log(P) Hits PubMed IDs
hypoxia ischemia brain 69.4 1
neurodegeneration 17.5 1
neurodegenerative diseases 15.9 3
diphtheria 13.3 1
immunodeficiency 7.07 1

Relevant External Links for PDIA2

Genetic Association Database (GAD)
PDIA2
Human Genome Epidemiology (HuGE) Navigator
PDIA2
genes like me logo Genes that share disorders with PDIA2: view

No data available for UniProtKB/Swiss-Prot 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 M.G. … Lan M.S. (DNA Cell Biol. 1996) 2 3 4 23
  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 X.M. … Zhu B.T. (J. Steroid Biochem. Mol. Biol. 2009) 3 4 23
  3. Redox regulation facilitates optimal peptide selection by MHC class I during antigen processing. (PMID: 17055437) Park B. … Ahn K. (Cell 2006) 3 23
  4. GRP78, but Not Protein-disulfide Isomerase, Partially Reverses Hyperglycemia-induced Inhibition of Insulin Synthesis and Secretion in Pancreatic {beta}-Cells. (PMID: 19103594) Zhang L. … Volchuk A. (J. Biol. Chem. 2009) 3 23
  5. Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. (PMID: 11157797) Daniels R.J. … Higgs D.R. (Hum. Mol. Genet. 2001) 3 4

Products for PDIA2 Gene

Sources for PDIA2 Gene

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