PDIA2 (protein disulfide isomerase family A member 2)

2010-06-01  

Identity

HGNC
LOCATION
16p13.3
LOCUSID
ALIAS
PDA2,PDI,PDIP,PDIR
FUSION GENES

Other Information

Locus ID:

NCBI: 64714
MIM: 608012
HGNC: 14180
Ensembl: ENSG00000185615

Variants:

dbSNP: 64714
ClinVar: 64714
TCGA: ENSG00000185615
COSMIC: PDIA2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000185615ENST00000219406Q13087
ENSG00000185615ENST00000404312Q13087
ENSG00000185615ENST00000435833Q4TT65
ENSG00000185615ENST00000456379H0Y4J5

Expression (GTEx)

0
100
200
300
400
500
600
700
800
900
1000

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA447197Attention Deficit Disorder with HyperactivityDiseaseClinicalAnnotationassociatedPD29382897
PA450464methylphenidateChemicalClinicalAnnotationassociatedPD29382897

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
152251242004Protein disulphide-isomerase reduces ricin to its A and B chains in the endoplasmic reticulum.72
203686882010Induction of the unfolded protein response and cell death pathway in Alzheimer's disease, but not in aged Tg2576 mice.59
226575372013Structural insights into the redox-regulated dynamic conformations of human protein disulfide isomerase.58
204481082010Extracellular protein disulfide isomerase regulates coagulation on endothelial cells through modulation of phosphatidylserine exposure.56
170554372006Redox regulation facilitates optimal peptide selection by MHC class I during antigen processing.49
120959882002Role of ubiquilin associated with protein-disulfide isomerase in the endoplasmic reticulum in stress-induced apoptotic cell death.48
188013742008Alternative conformations of the x region of human protein disulphide-isomerase modulate exposure of the substrate binding b' domain.44
220900312012Human protein-disulfide isomerase is a redox-regulated chaperone activated by oxidation of domain a'.42
146847402004Molecular characterization of the principal substrate binding site of the ubiquitous folding catalyst protein disulfide isomerase.38

Citation

Dessen P

PDIA2 (protein disulfide isomerase family A member 2)

Atlas Genet Cytogenet Oncol Haematol. 2010-06-01

Online version: http://atlasgeneticsoncology.org/gene/51536/pdia2