PDIA2 - protein disulfide isomerase family A member 2 Gene

Also Known as PDI; PDA2; PDIP; PDIR

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 64714

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
Molecular Function GO Annotation Evidence References 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
  • 500
  • 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 References
Intra
PDIA2 Q13087 KRTAP6-1 Homo sapiens Q3LI64 32296183
Intra
PDIA2 Q13087 NCK1 Homo sapiens P16333 17474147
Cross: Cross-species interaction Intra: Intraspecies interaction

PDIA2 Antibodies

Cat. No. Product Name Application Reactivity
HY-P80270 PDIA2 Antibody (YA238) WB, FC Human, Mouse, Rat

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
Others PDIA2 NCBI