RPN2

Description

The RPN2 (ribophorin II) is a protein-coding gene located on chromosome 20.

RPN2, also called ribophorin II, is an enzyme encoded by the RPN2 gene in humans. It is a type I integral membrane protein found only in the rough endoplasmic reticulum (ER). RPN2 is part of an N-oligosaccharyl transferase (OST) complex that attaches high mannose oligosaccharides to asparagine residues in nascent polypeptide chains, a process crucial for protein folding and function. RPN2 is similar in structure to the yeast OST subunit SWP1 and has been identified as a prognostic marker for human cancer, suggesting its potential clinical importance. The RPN2 gene is located on chromosome 20q11.23 and consists of 19 exons. The protein contains 631 amino acid residues and has a molecular weight of 69284Da. RPN2 plays a role in maintaining the structure of the rough ER and is involved in the translocation of proteins across the ER membrane. It regulates the glycosylation of multi-drug resistance proteins, potentially impacting the sensitivity of cancer cells to chemotherapy.

RPN2 is a subunit of the oligosaccharyl transferase (OST) complex. OST catalyzes the initial transfer of a specific glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from dolichol-pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr motif in nascent polypeptide chains, initiating protein N-glycosylation. This process occurs cotranslationally and the OST complex associates with the Sec61 complex at the translocon complex, facilitating protein translocation across the endoplasmic reticulum (ER). All OST subunits are crucial for optimal enzyme activity.

RPN2 is also known as RIBIIR, RPN-II, RPNII, SWP1.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing