PDIA2 (protein disulfide isomerase family A member 2)

Gene Gene information from NCBI Gene database.
Gene Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID 64714
Gene name Protein disulfide isomerase family A member 2
Gene symbol PDIA2
Synonyms (NCBI Gene)
PDA2PDIPDIPPDIR
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 factors information provided by TRRUST V2 database.
1
Gene Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
Transcription factor Regulation Reference
SP1 Activation 8503862
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
Gene Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all (20)
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Transcription factors Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
608012 14180 ENSG00000185615
Protein Protein information from UniProt database.
Gene Transcription factors Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Sequence length 525
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene Transcription factors Gene ontology Other IDs Protein 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)
Show/Hide Unknown Diseases (1)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
HYPERTENSION — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (43)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 27786579, 29409023
★★★★★
★☆☆☆☆
Found in Text Mining only
Anhedonia Anhedonia BEFREE 12877395
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 28394850
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 28394850
★★★★★
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 25389050, 31722418
★★★★★
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 25389050, 31722418
★★★★★
★☆☆☆☆
Found in Text Mining only
Behcet Syndrome Behcet Syndrome BEFREE 28068465
★★★★★
★☆☆☆☆
Found in Text Mining only
Bicuspid aortic valve Bicuspid aortic valve BEFREE 20098615
★★★★★
★☆☆☆☆
Found in Text Mining only
Bicuspid Aortic Valve Disease Bicuspid aortic valve Pubtator 20098615 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Brain atrophy Brain atrophy BEFREE 28337259
★★★★★
★☆☆☆☆
Found in Text Mining only