• Gene id: 64714

Gene Summary

• Gene Symbol: PDIA2   Gene   UCSC   Ensembl
• Aliases: PDA2, PDI, PDIP, PDIR
• Gene name: protein disulfide isomerase family A member 2
• Alternate names: protein disulfide-isomerase A2, Rho GDP dissociation inhibitor gamma, pancreas-specific protein disulfide isomerase, pancreatic protein disulfide isomerase, protein disulfide isomerase, pancreatic, protein disulfide isomerase-associated 2,
• Gene location: 16p13.3 (283163: 287214)     Exons: 11     NC_000016.10
• Gene summary(Entrez): 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

Protein Summary

• Protein general information: Q13087  
  • Name: Protein disulfide isomerase A2 (EC 5.3.4.1) (Pancreas specific protein disulfide isomerase) (PDIp)
  • Length: 525  
  • Mass: 58206
  • Tissue specificity: Highly expressed in pancreas (at protein level). {ECO
• Sequence:

  MSRQLLPVLLLLLLRASCPWGQEQGARSPSEEPPEEEIPKEDGILVLSRHTLGLALREHPALLVEFYAPWCGHCQ
  ALAPEYSKAAAVLAAESMVVTLAKVDGPAQRELAEEFGVTEYPTLKFFRNGNRTHPEEYTGPRDAEGIAEWLRRR
  VGPSAMRLEDEAAAQALIGGRDLVVIGFFQDLQDEDVATFLALAQDALDMTFGLTDRPRLFQQFGLTKDTVVLFK
  KFDEGRADFPVDEELGLDLGDLSRFLVTHSMRLVTEFNSQTSAKIFAARILNHLLLFVNQTLAAHRELLAGFGEA
  APRFRGQVLFVVVDVAADNEHVLQYFGLKAEAAPTLRLVNLETTKKYAPVDGGPVTAASITAFCHAVLNGQVKPY
  LLSQEIPPDWDQRPVKTLVGKNFEQVAFDETKNVFVKFYAPWCTHCKEMAPAWEALAEKYQDHEDIIIAELDATA
  NELDAFAVHGFPTLKYFPAGPGRKVIEYKSTRDLETFSKFLDNGGVLPTEEPPEEPAAPFPEPPANSTMGSKEEL

• Structural information:
  • Protein Domains: (27..15-)
    (/note="Thioredoxin-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00691-)
    (367..49-)
    (/note="Thioredoxin-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00691"-)
  • Interpro: IPR005792  IPR036249  IPR017937  IPR013766  
  • Prosite: PS00014 PS00194 PS51352
  • STRING: ENSP00000219406
• Other Databases: GeneCards:  PDIA2  Malacards:  PDIA2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0015036	disulfide oxidoreductase activity	TAS	molecular function
GO:0034975	protein folding in endoplasmic reticulum	TAS	biological process
GO:0006457	protein folding	IBA	biological process
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0034976	response to endoplasmic reticulum stress	IBA	biological process
GO:0003756	protein disulfide isomerase activity	IEA	molecular function
GO:0045454	cell redox homeostasis	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0008289	lipid binding	IEA	molecular function
GO:0016853	isomerase activity	IEA	molecular function
GO:0005496	steroid binding	IEA	molecular function
GO:0003756	protein disulfide isomerase activity	TAS	molecular function
GO:0006621	protein retention in ER lumen	TAS	biological process
GO:0005783	endoplasmic reticulum	TAS	cellular component
GO:0006457	protein folding	TAS	biological process
GO:0003756	protein disulfide isomerase activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005788	endoplasmic reticulum lumen	IEA	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0015037	peptide disulfide oxidoreductase activity	IDA	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq