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5 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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RETREG3
reticulophagy regulator family member 3
Chromosome 17 · 17q21.2
NCBI Gene: 162427Ensembl: ENSG00000141699.11HGNC: HGNC:27258UniProt: K7EQI9
41PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingpositive regulation of neuron projection developmentreticulophagyendoplasmic reticulum tubular network organizationGenetic central nervous system malformationgenetic disordertype 2 diabetes mellitusdiabetes mellitus
✦AI Summary

RETREG3 (reticulophagy regulator family member 3), also known as FAM134C, is an endoplasmic reticulum (ER)-anchored autophagy receptor that exists in an inactive state under basal conditions but is activated following cellular stress 1. Upon activation, RETREG3 induces ER fragmentation and mediates ER delivery into lysosomes through sequestration into autophagosomes via interaction with ATG8 family proteins 1. The protein promotes ER membrane curvature and tubulation required for ER fragmentation and autophagosome engulfment 2. RETREG3 function depends critically on its LC3-interacting region (LIR) motif 13. Beyond canonical ER-phagy, RETREG3 functions as a selective autophagy receptor for type I BMP receptors (BMPR1A), recruiting them into LC3-containing autophagosomes for degradation, thereby restraining BMP signaling 3. RETREG3 activity is regulated by phosphorylation-dependent ubiquitination mediated by casein kinase 2 (CSNK2/CK2), a process prerequisite for formation of high-density receptor clusters and reticulophagy flux 4. In vivo, RETREG3-deficient mice exhibit enhanced BMP responses in intestinal tissue, affecting intestinal crypt regeneration 3. These findings establish RETREG3 as a multifunctional regulator controlling both ER homeostasis and specific signaling pathways through selective autophagy.

Sources cited
1
RETREG3 is an ER-phagy receptor existing in inactive state basally, activated upon stress to induce ER fragmentation and lysosomal degradation via LC3-interacting region-dependent mechanisms
PMID: 34338405
2
RETREG3 promotes ER membrane curvature and tubulation required for ER fragmentation and autophagosome engulfment through its reticulon homology domain
PMID: 33826365
3
RETREG3/FAM134C functions as a selective autophagy receptor for BMPR1A degradation, restraining BMP signaling in a LIR motif-dependent manner, affecting intestinal crypt regeneration in vivo
PMID: 41116059
4
RETREG3 activity is regulated by phosphorylation-dependent ubiquitination mediated by casein kinase 2 (CSNK2/CK2), prerequisite for high-density cluster formation and reticulophagy flux
PMID: 38511596
5
CSNK2/CK2 function selectively affects ER and Golgi autophagy through RETREG3 and RETREG1 phosphorylation-dependent regulation
PMID: 39178915
Disease Associationsⓘ20
Genetic central nervous system malformationOpen Targets
0.33Weak
genetic disorderOpen Targets
0.32Weak
type 2 diabetes mellitusOpen Targets
0.08Suggestive
diabetes mellitusOpen Targets
0.07Suggestive
peripheral vascular diseaseOpen Targets
0.06Suggestive
atherosclerosisOpen Targets
0.06Suggestive
retinitis pigmentosaOpen Targets
0.05Suggestive
psoriasisOpen Targets
0.05Suggestive
Eczematoid dermatitisOpen Targets
0.04Suggestive
hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2Open Targets
0.04Suggestive
schizophreniaOpen Targets
0.04Suggestive
coronary artery diseaseOpen Targets
0.04Suggestive
retinitis pigmentosa and erythrocytic microcytosisOpen Targets
0.04Suggestive
Familial drusenOpen Targets
0.04Suggestive
dehydrated hereditary stomatocytosisOpen Targets
0.04Suggestive
hemoglobin D diseaseOpen Targets
0.04Suggestive
choroideremiaOpen Targets
0.04Suggestive
metabolic syndromeOpen Targets
0.04Suggestive
skin diseaseOpen Targets
0.04Suggestive
choroidal dystrophy, central areolar, 1Open Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
NMD3Protein interaction76%RETREG1Shared pathway33%RETREG2Shared pathway25%REEP2Shared pathway25%RTN3Shared pathway22%TEX264Shared pathway20%
Tissue Expression6 tissues
Liver
100%
Ovary
69%
Lung
67%
Brain
49%
Heart
47%
Bone Marrow
25%
Gene Interaction Network
Click a node to explore
RETREG3NMD3RETREG1RETREG2REEP2RTN3TEX264
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q86VR2
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.67LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.47 [0.34–0.67]
RankingsWhere RETREG3 stands among ~20K protein-coding genes
  • #10,066of 20,598
    Most Researched41
  • #4,950of 17,882
    Most Constrained (LOEUF)0.67
Genes detectedRETREG3
Sources retrieved5 papers
Response time—
📄 Sources
5
1
Reticulophagy receptor FAM134C restrains BMP receptor signaling.
PMID: 41116059
EMBO J · 2025
1.00
2
CSNK2/CK2 regulates selective autophagy of the endoplasmic reticulum.
PMID: 38511596
Autophagy · 2024
0.80
3
Function of CSNK2/CK2 selectively affects the endoplasmic reticulum and the Golgi apparatus in mtor-mediated autophagy induction.
PMID: 39178915
Autophagy · 2025
0.60
4
Role of FAM134 paralogues in endoplasmic reticulum remodeling, ER-phagy, and Collagen quality control.
PMID: 34338405
EMBO Rep · 2021
0.40
5
RTN4B interacting protein FAM134C promotes ER membrane curvature and has a functional role in autophagy.
PMID: 33826365
Mol Biol Cell · 2021
0.20