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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ERVFRD-1
endogenous retrovirus group FRD member 1, envelope
Chromosome 6 · 6p24.2
NCBI Gene: 405754Ensembl: ENSG00000244476.4HGNC: HGNC:33823UniProt: P60508
40PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
myoblast fusionprotein bindingsyncytium formation by cell-cell fusionnegative regulation of syncytium formation by plasma membrane fusionlumbar disc degenerationmale reproductive organ cancerSubdural hemorrhageneoplasm
✦AI Summary

ERVFRD-1 (Syncytin-2) is an endogenous retroviral envelope protein that functions as a major fusogen mediating trophoblast syncytialization during placental development 1. As a transmembrane fusion protein, ERVFRD-1 recognizes cellular receptors (particularly MFSD2A) and catalyzes membrane fusion between mononucleated cytotrophoblasts to form the multinucleated syncytiotrophoblast (STB), the specialized cell layer governing maternal-fetal nutrient exchange 2. ERVFRD-1 expression is transcriptionally regulated by TFEB downstream of mTORC1 nutrient-sensing signaling; under nutrient stress, TFEB directly activates ERVFRD-1 to promote compensatory STB formation and enhance placental adaptation 3. Clinically, ERVFRD-1 expression correlates with proper placental development and fetal growth; reduced ERVFRD-1 expression occurs under metabolic stress conditions modeling maternal diabetes and obesity, impairing STB formation and hormone secretion 4. ERVFRD-1 suppression also occurs with FOXO1 inhibition during early trophoblast differentiation, preventing progression toward syncytiotrophoblast lineage commitment 5. Dysregulation of ERVFRD-1 expression by xenobiotics (e.g., valproic acid) impairs syncytialization and associates with adverse neonatal outcomes 6. These findings establish ERVFRD-1 as essential for placental formation and adaptation to nutrient availability during pregnancy.

Sources cited
1
TFEB transcriptionally activates ERVFRD-1 to promote syncytiotrophoblast formation under mTORC1 inhibition during nutrient stress
PMID: 38968109
2
Syncytiotrophoblast formation and ERVFRD-1 expression enable placental adaptation to amino acid shortage through macropinocytosis
PMID: 33402432
3
Metabolic stress suppresses ERVFRD-1 expression and impairs syncytiotrophoblast hormone and MMP secretion in BeWo cells
PMID: 37800606
4
ERVFRD-1 (syncytin-2) receptor-binding domains recognize ASCT2/MFSD2A cellular receptors for placental cell fusion
PMID: 38671230
5
ERVFRD-1 is a major fusogen encoding syncytin-2, expressed throughout human placental development with distinct transcriptional patterning
PMID: 33504453
6
ERVFRD-1 is upregulated in ERVW-1 knockdown trophoblast stem cells and syncytiotrophoblasts
PMID: 35816776
7
FOXO1 inhibition suppresses ERVFRD-1 and other ERV-associated gene expression, hindering syncytiotrophoblast and extravillous trophoblast differentiation
PMID: 39290630
8
Valproic acid dose-dependently suppresses ERVFRD-1 expression and attenuates trophoblast cell fusion in BeWo and trophoblast stem cells
PMID: 37385477
Disease Associationsⓘ20
lumbar disc degenerationOpen Targets
0.10Weak
male reproductive organ cancerOpen Targets
0.09Suggestive
Subdural hemorrhageOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.08Suggestive
glioblastoma multiformeOpen Targets
0.08Suggestive
acute myeloid leukemiaOpen Targets
0.08Suggestive
Ewing sarcomaOpen Targets
0.06Suggestive
Alzheimer diseaseOpen Targets
0.05Suggestive
seminomaOpen Targets
0.05Suggestive
endometriosisOpen Targets
0.05Suggestive
polyarteritis nodosaOpen Targets
0.04Suggestive
infectionOpen Targets
0.04Suggestive
actinic keratosisOpen Targets
0.04Suggestive
prostate carcinomaOpen Targets
0.04Suggestive
gliomaOpen Targets
0.04Suggestive
systemic lupus erythematosusOpen Targets
0.04Suggestive
subarachnoid hemorrhageOpen Targets
0.03Suggestive
silver-Russell syndrome due to 11p15 microduplicationOpen Targets
0.03Suggestive
colorectal carcinomaOpen Targets
0.03Suggestive
malariaOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MYMKShared pathway100%MFSD2AProtein interaction100%CDH1Protein interaction93%FN1Protein interaction92%TLR4Protein interaction90%SLC1A5Protein interaction83%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
98%
Heart
48%
Liver
21%
Ovary
10%
Brain
9%
Gene Interaction Network
Click a node to explore
ERVFRD-1MYMKMFSD2ACDH1FN1TLR4SLC1A5
PROTEIN STRUCTURE
Preparing viewer…
PDB1Y4M · 1.60 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.96LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.72 [0.54–0.96]
RankingsWhere ERVFRD-1 stands among ~20K protein-coding genes
  • #10,166of 20,598
    Most Researched40
  • #9,004of 17,882
    Most Constrained (LOEUF)0.96
Genes detectedERVFRD-1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
TFEB safeguards trophoblast syncytialization in humans and mice.
PMID: 38968109
Proc Natl Acad Sci U S A · 2024
1.00
2
Placental trophoblast syncytialization potentiates macropinocytosis via mTOR signaling to adapt to reduced amino acid supply.
PMID: 33402432
Proc Natl Acad Sci U S A · 2021
0.90
3
Impact of Metabolic Stress on BeWo Syncytiotrophoblast Function.
PMID: 37800606
Chembiochem · 2023
0.80
4
Receptor-recognition and antiviral mechanisms of retrovirus-derived human proteins.
PMID: 38671230
Nat Struct Mol Biol · 2024
0.70
5
Syncytins expressed in human placental trophoblast.
PMID: 33504453
Placenta · 2021
0.60