Aliases for PDIA2 Gene
External Ids for PDIA2 Gene
Previous HGNC Symbols for PDIA2 Gene
Previous GeneCards Identifiers for PDIA2 Gene
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]
GeneCards Summary for PDIA2 Gene
PDIA2 (Protein Disulfide Isomerase Family A Member 2) is a Protein Coding gene. Diseases associated with PDIA2 include Alpha Thalassemia-Intellectual Disability Syndrome Type 1 and Multiple Sulfatase Deficiency. Among its related pathways are Statin Pathway. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and steroid binding. An important paralog of this gene is P4HB.
UniProtKB/Swiss-Prot for PDIA2 Gene
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.