RETREG2 (Reticulophagy Regulator 2)
Gene encoding a reticulophagy receptor involved in endoplasmic reticulum turnover and cellular stress responses
Gene Information Card
| Symbol | RETREG2 |
|---|---|
| Full Name | Reticulophagy Regulator 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.31 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000108771 |
| UniProt ID | Q9BVV6 |
| OMIM ID | 620389 |
| HGNC ID | 25923 |
| Aliases | FAM134C, C17orf42, ER-phagy receptor 2 |
Description
RETREG2 (Reticulophagy Regulator 2), also known as FAM134C, encodes a transmembrane protein that functions as a reticulophagy receptor. It localizes to the endoplasmic reticulum (ER) and mediates selective autophagy of ER fragments (ER-phagy), contributing to ER turnover and cellular homeostasis. The protein contains a reticulon homology domain (RHD) and an LC3-interacting region (LIR) motif, enabling interaction with autophagosomal membranes. RETREG2 is involved in stress responses and has been implicated in neurodegenerative and cancer pathways.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary spastic paraplegia (potential) | Loss of ER-phagy function leads to ER accumulation and axonal degeneration | Limited; inferred from paralog RETREG1 (FAM134B) mutations in HSAN II |
| Cancer (various) | Altered RETREG2 expression may affect ER stress and autophagy-mediated tumor suppression | COSMIC somatic mutation data; low-frequency missense variants |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Liver | 3.8 | Low |
| Kidney | 4.1 | Low |
| Testis | 6.7 | Medium |
| Thyroid | 5.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 4.9 | Embryonic kidney |
| HeLa | 3.2 | Cervical carcinoma |
| K562 | 2.1 | Leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487G>A (p.Gly163Arg) | Missense | <0.01% | Unknown; predicted damaging (SIFT) |
| c.632C>T (p.Thr211Met) | Missense | <0.01% | Unknown; predicted benign (PolyPhen) |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in RETREG2; predicted based on truncating variants in gnomAD.
Gain of Function (GOF)
Not described.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • endoplasmic reticulum (GO:0005783) | • macroautophagy (GO:0016236) |
| • response to ER stress (GO:0034976) | • identical protein binding (GO:0042802) |
| • reticulophagy (GO:0061709) |
Pathways
• Autophagy (KEGG hsa04140)
• ER-phagy (Reactome R-HSA-9634600)
Protein Summary
RETREG2 is a 497-amino acid transmembrane protein with a reticulon homology domain (RHD) and an LC3-interacting region (LIR). It anchors to the ER membrane and recruits autophagic machinery to mediate ER fragmentation and degradation. The protein is ubiquitously expressed at low levels, with highest abundance in testis. Structural studies suggest it forms oligomers to shape ER membranes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RETREG2 Knockout HEK293 Cell Line | EDJ-KQ15037 | Human | 79137 | Details Get a Quote |
| RETREG2 Knockout A-549 Cell Line | EDJ-KQ45577 | Human | 79137 | Details Get a Quote |
| RETREG2 Knockout HCT 116 Cell Line | EDJ-KQ45578 | Human | 79137 | Details Get a Quote |
| RETREG2 Knockout HeLa Cell Line | EDJ-KQ45579 | Human | 79137 | Details Get a Quote |
