1. Gene
  2. PDIA2 - protein disulfide isomerase family A member 2 Gene

PDIA2 - protein disulfide isomerase family A member 2 Gene

Homo sapiens

Also known as PDI; PDA2; PDIP; PDIR

Gene ID: 64714 | Gene type: protein coding

About PDIA2

Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38): 16:283,164-287,215 (from NCBI)

This gene has 7 transcripts (splice variants), 335 orthologues and 13 paralogues. Biased expression in pancreas (RPKM 284.3) and stomach (RPKM 33.5).

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 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]

PDIA2 Products(1)

mRNA Protein Name
NM_006849.4 NP_006840.2 protein disulfide-isomerase A2 precursor
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
17474147 GOA
enables protein-disulfide reductase activity IDA
IDA: Inferred from direct assay
16677074 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PDIA2 Protein Structure

Thioredoxin

Thioredoxin: Thioredoxin (58 - 149)

Thioredoxin_6

Thioredoxin_6: Thioredoxin-like domain (179 - 365)

Thioredoxin

Thioredoxin: Thioredoxin (390 - 492)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 525 a.a.
Protein Preferred Names Protein Names

protein disulfide-isomerase A2

Rho GDP dissociation inhibitor gamma

PDIA2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
PDIA2 Q13087 KRTAP6-1 Homo sapiens Q3LI64 32296183
Intra
PDIA2 Q13087 NCK1 Homo sapiens P16333 17474147
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Abetalipoproteinemia

Acanthocytosis

ABL

Bassen-Kornzweig Syndrome

Mtp Deficiency

Familial Hypobetalipoproteinemia

Abetalipoproteinaemia

Microsomal Triglyceride Transfer Protein Deficiency

Microsomal Triglyceride Transfer Protein Deficiency Disease

Abetalipoproteinemia Neuropathy

Apolipoprotein B Deficiency

Bassen-Kornzweig Disease

Betalipoprotein Deficiency Disease

Congenital Betalipoprotein Deficiency Syndrome

Homozygous Familial Hypobetalipoproteinemia

Fhbl

Bassen Kornzweig Syndrome

Hypobetalipoproteinemia, Familial

Hypobetalipoproteinemia

Hypobetalipoproteinemias

Hypobetalipoproteinemia, Familial, Apolipoprotein B

Alpha Thalassemia-Intellectual Disability Syndrome Type 1

Alpha Thalassemia-Intellectual Disability Syndrome, Deletion Type

Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16

Atr Syndrome Linked To Chromosome 16

Atr Syndrome, Deletion Type

Atr-16 Syndrome

Alpha Thalassemia-Retardation Syndrome

Alpha-Thalassemia/Mental Retardation Syndrome, Deletion-Type

Alpha-Thalassemia/Mental Retardation Syndrome, Type 1

Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type

Aortic Aneurysm, Familial Thoracic 1

Thoracic Aortic Aneurysm

Annuloaortic Ectasia

Familial Thoracic Aortic Aneurysm And Aortic Dissection

Familial Aortic Dissection

Familial Taad

Familial Thoracic Aortic Aneurysm

Congenital Aneurysm Of Ascending Aorta

Familial Aortic Aneurysm

Familial Thoracic Aortic Aneurysm And Dissection

Aortic Aneurysm, Thoracic

AAT1

Faa1

Aortic Dissection, Familial

Aortic Aneurysm, Familial Thoracic

Aneurysm, Thoracic Aortic

Faa

Ftaad

Taa

Taad

Cystic Medial Necrosis Of Aorta

Familial Non-Syndromic Thoracic Aortic Aneurysm And Aortic Dissection

Aortic Aneurysm Thoracic

Familial Aortic Aneurysms

Aneurysm, Aortic, Thoracic, Familial, Type 1

Aneurysm Of Thoracic Aorta

Intrathoracic Aneurysm

Thoracic Aorta Aneurysm

Thoracic Aortic Aneurysm Without Rupture

Thoracic Aneurysm

Thorax Arterial Aneurysm

Thoracic Artery Aneurysm

Thoracic Arterial Aneurysm

Thorax Aneurysm

Thorax Aortic Aneurysm

Dissection Of Thoracic Aorta

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus PDIA2 VGNC VGNC:32696
Macaca mulatta PDIA2 VGNC VGNC:75799
Felis catus PDIA2 VGNC VGNC:82326
Mus musculus PDIA2 MGD MGI:1916441
Rattus norvegicus PDIA2 RGD RGD:1305164
Canis familiaris PDIA2 VGNC VGNC:44376