PDIA2 (protein disulfide isomerase family A member 2)

Gene

• Entrez ID: 64714
• Gene name: Protein disulfide isomerase family A member 2
• Gene symbol: PDIA2
• Synonyms (NCBI Gene): PDA2, PDI, PDIP, PDIR
• Chromosome: 16
• Chromosome location: 16p13.3
• Summary: 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

Transcription factors

Transcription factor	Regulation	Reference
SP1	Activation	8503862

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003756	Function	Protein disulfide isomerase activity	IBA
GO:0003756	Function	Protein disulfide isomerase activity	TAS	8561901
GO:0005496	Function	Steroid binding	IEA
GO:0005515	Function	Protein binding	IPI	17474147, 32296183
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	TAS	8561901
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0006457	Process	Protein folding	IBA
GO:0006457	Process	Protein folding	TAS	8561901
GO:0006621	Process	Protein retention in ER lumen	TAS	8561901
GO:0008289	Function	Lipid binding	IEA
GO:0015035	Function	Protein-disulfide reductase activity	IDA	16677074
GO:0015035	Function	Protein-disulfide reductase activity	IEA
GO:0015036	Function	Disulfide oxidoreductase activity	TAS	22013210
GO:0016853	Function	Isomerase activity	IEA
GO:0034975	Process	Protein folding in endoplasmic reticulum	IEA
GO:0034975	Process	Protein folding in endoplasmic reticulum	TAS	22013210
GO:0034976	Process	Response to endoplasmic reticulum stress	IBA
GO:0070527	Process	Platelet aggregation	IEA

Other IDs

• MIM: 608012
• HGNC: 14180
• e!Ensembl: ENSG00000185615

Protein

• UniProt ID: Q13087
• Protein name: Protein disulfide-isomerase A2 (EC 5.3.4.1) (Pancreas-specific protein disulfide isomerase) (PDIp)
• Protein 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. {ECO:0000269|PubMed:1
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00085	Thioredoxin	44 → 149	Thioredoxin	Domain
  PF13848	Thioredoxin_6	179 → 366		Domain
  PF00085	Thioredoxin	389 → 493	Thioredoxin	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in pancreas (at protein level). {ECO:0000269|PubMed:19429457, ECO:0000269|PubMed:8561901, ECO:0000269|PubMed:9115635}.
• Sequence:

  MSRQLLPVLLLLLLRASCPWGQEQGARSPSEEPPEEEIPKEDGILVLSRHTLGLALREHP
  ALLVEFYAPWCGHCQALAPEYSKAAAVLAAESMVVTLAKVDGPAQRELAEEFGVTEYPTL
  KFFRNGNRTHPEEYTGPRDAEGIAEWLRRRVGPSAMRLEDEAAAQALIGGRDLVVIGFFQ
  DLQDEDVATFLALAQDALDMTFGLTDRPRLFQQFGLTKDTVVLFKKFDEGRADFPVDEEL
  GLDLGDLSRFLVTHSMRLVTEFNSQTSAKIFAARILNHLLLFVNQTLAAHRELLAGFGEA
  APRFRGQVLFVVVDVAADNEHVLQYFGLKAEAAPTLRLVNLETTKKYAPVDGGPVTAASI
  TAFCHAVLNGQVKPYLLSQEIPPDWDQRPVKTLVGKNFEQVAFDETKNVFVKFYAPWCTH
  CKEMAPAWEALAEKYQDHEDIIIAELDATANELDAFAVHGFPTLKYFPAGPGRKVIEYKS
  TRDLETFSKFLDNGGVLPTEEPPEEPAAPFPEPPANSTMGSKEEL

• Sequence length: 525

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Adenocarcinoma	Associate	23782473	★☆☆☆☆ Found in Text Mining only
Bicuspid Aortic Valve Disease	Associate	20098615	★☆☆☆☆ Found in Text Mining only
Carcinoma Adenosquamous	Associate	23782473	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Associate	35945780	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Associate	33034614	★☆☆☆☆ Found in Text Mining only
Infections	Associate	33396308	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Stimulate	39333312	★☆☆☆☆ Found in Text Mining only
Neoplasm Metastasis	Associate	39333312	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	34929376	★☆☆☆☆ Found in Text Mining only
Neoplasms	Stimulate	39333312	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Associate	31706267, 35238112	★☆☆☆☆ Found in Text Mining only
Precancerous Conditions	Associate	39333312	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Associate	39333312	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Associate	34436011	★☆☆☆☆ Found in Text Mining only