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5 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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RETREG2
reticulophagy regulator family member 2
Chromosome 2 · 2q35
NCBI Gene: 79137Ensembl: ENSG00000144567.12HGNC: HGNC:28450UniProt: B3KR51
31PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingmembranesubstrate localization to autophagosomeendoplasmic reticulum-autophagosome adaptor activitycysthypothyroidismAbnormality of the skeletal systemidiopathic hypereosinophilic syndrome
✦AI Summary

RETREG2 (also known as FAM134A) is an endoplasmic reticulum (ER)-anchored autophagy receptor that regulates selective ER degradation (ER-phagy). Under basal conditions, RETREG2 exists in an inactive state but becomes activated upon cellular stress and autophagy induction 1. Upon activation, RETREG2 induces ER fragmentation and mediates delivery of ER segments into lysosomes through sequestration into autophagosomes via interaction with ATG8 family proteins 1. Unlike its paralogue FAM134B/RETREG1, RETREG2 maintains ER morphology and executes collagen quality control through a LIR (LC3-interacting region)-independent mechanism 1. RETREG2 also contributes to mitotic cell rounding; its depletion impairs mitotic progression by affecting metaphase plate alignment and reducing pressure generation through myosin II relocalization 2. Genetically, RETREG2 is a novel glioma susceptibility gene, with increased expression associated with elevated glioma risk across multiple subtypes 3. Additionally, cancer-secreted microRNAs can suppress RETREG2 expression to promote osteoblastic phenotype induction in bone metastatic microenvironments 4, suggesting RETREG2's broader role in cellular homeostasis and disease pathology.

Sources cited
1
RETREG2 is an ER-phagy receptor existing in an inactive state under basal conditions; becomes activated upon stress to induce ER fragmentation and mediate lysosomal degradation through ATG8 interaction; maintains ER morphology via LIR-dependent manner; executes collagen quality control in LIR-independent manner
PMID: 34338405
2
RETREG2 is a novel glioma susceptibility gene; genetically predicted increased RETREG2 expression is associated with glioma risk across all glioma subtypes
PMID: 33504897
3
FAM134A (RETREG2) depletion impairs mitotic progression by affecting metaphase plate alignment and pressure generation through cortical myosin II delocalization
PMID: 29097687
4
Cancer-secreted hsa-miR-940 targets FAM134A (RETREG2) to promote osteoblastic phenotype in bone metastatic microenvironment
PMID: 29440427
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
cystOpen Targets
0.08Suggestive
hypothyroidismOpen Targets
0.05Suggestive
Abnormality of the skeletal systemOpen Targets
0.04Suggestive
idiopathic hypereosinophilic syndromeOpen Targets
0.04Suggestive
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.04Suggestive
chronic myelogenous leukemiaOpen Targets
0.03Suggestive
acute erythroleukemiaOpen Targets
0.03Suggestive
erythroleukemia, familial, susceptibility toOpen Targets
0.03Suggestive
dominant beta-thalassemiaOpen Targets
0.03Suggestive
autoimmune lymphoproliferative syndrome type 4Open Targets
0.03Suggestive
RAS-associated autoimmune leukoproliferative diseaseOpen Targets
0.03Suggestive
hereditary neutrophiliaOpen Targets
0.03Suggestive
immunodeficiency 84Open Targets
0.03Suggestive
trimethylaminuriaOpen Targets
0.03Suggestive
transient myeloproliferative syndromeOpen Targets
0.03Suggestive
immunodeficiency 69Open Targets
0.03Suggestive
hemoglobin H diseaseOpen Targets
0.03Suggestive
X-linked retinoschisisOpen Targets
0.03Suggestive
hemolytic anemia due to diphosphoglycerate mutase deficiencyOpen Targets
0.03Suggestive
sickle cell diseaseOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
NMD3Protein interaction76%IRGQShared pathway33%RETREG1Shared pathway25%RETREG3Shared pathway25%STBD1Shared pathway20%TOM1Shared pathway17%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
94%
Liver
84%
Ovary
84%
Lung
59%
Heart
53%
Gene Interaction Network
Click a node to explore
RETREG2NMD3IRGQRETREG1RETREG3STBD1TOM1
PROTEIN STRUCTURE
Preparing viewer…
PDB6EWC · 3.20 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.61LoF Tolerant
pLIⓘ
0.18Tolerant
Observed/Expected LoF0.42 [0.30–0.61]
RankingsWhere RETREG2 stands among ~20K protein-coding genes
  • #11,785of 20,598
    Most Researched31
  • #4,258of 17,882
    Most Constrained (LOEUF)0.61 · top quartile
Genes detectedRETREG2
Sources retrieved5 papers
Response time—
📄 Sources
5
1
Transcriptome-wide Mendelian randomization study prioritising novel tissue-dependent genes for glioma susceptibility.
PMID: 33504897
Sci Rep · 2021
1.00
2
Role of FAM134 paralogues in endoplasmic reticulum remodeling, ER-phagy, and Collagen quality control.
PMID: 34338405
EMBO Rep · 2021
0.80
3
Genome-scale single-cell mechanical phenotyping reveals disease-related genes involved in mitotic rounding.
PMID: 29097687
Nat Commun · 2017
0.60
4
The Profile of Genetic Mutations in Papillary Thyroid Cancer Detected by Whole Exome Sequencing.
PMID: 30278442
Cell Physiol Biochem · 2018
0.40
5
Cancer-secreted hsa-miR-940 induces an osteoblastic phenotype in the bone metastatic microenvironment via targeting ARHGAP1 and FAM134A.
PMID: 29440427
Proc Natl Acad Sci U S A · 2018
0.20