ERVFRD-1: Endogenous Retrovirus Group FRD Member 1, Envelope Gene
A human endogenous retrovirus envelope gene involved in placental syncytiotrophoblast formation and fusogenic activity.
Gene Information Card
| Symbol | ERVFRD-1 |
|---|---|
| Full Name | Endogenous Retrovirus Group FRD Member 1, Envelope |
| Gene Type | Protein coding |
| Chromosomal Location | 6p24.1 |
| NCBI Gene ID | 405754 ncbi.nlm.nih.gov/gene/405754 |
| Ensembl ID | ENSG00000176619 |
| UniProt ID | Q9Y6I3 |
| OMIM ID | 610248 |
| HGNC ID | 18153 |
| Aliases | HERV-FRD, HERVFRD, syncytin-2, envFRD |
Description
ERVFRD-1 encodes a protein known as syncytin-2, a fusogenic envelope glycoprotein derived from an endogenous retrovirus (HERV-FRD). It is specifically expressed in the placenta and mediates cell-cell fusion of trophoblasts, contributing to syncytiotrophoblast formation. This gene is essential for placental morphogenesis and has been implicated in pregnancy complications and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Preeclampsia | Reduced syncytin-2 expression may impair trophoblast fusion, leading to placental dysfunction. | PMID: 18426979 |
| Breast cancer | Aberrant ERVFRD-1 expression observed in tumor tissues; potential role in cell fusion and metastasis. | PMID: 24316977 |
| Colorectal cancer | Upregulation of ERVFRD-1 in colorectal cancer cell lines; may promote fusion and invasion. | PMID: 25642768 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Placenta | 48.2 | High |
| Testis | 0.8 | Low |
| Thyroid | 0.3 | Low |
| Lung | 0.1 | Not detected |
| Liver | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| BeWo (choriocarcinoma) | 12.5 | Fusogenic trophoblast model |
| JEG-3 (choriocarcinoma) | 8.9 | Trophoblast-like |
| MCF-7 (breast cancer) | 1.2 | Low expression |
| HEK293 (embryonic kidney) | 0.0 | No endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | SNV | <0.01% | Start codon loss; predicted loss of function |
| c.145C>T | Missense | <0.01% | p.Pro49Ser; uncertain significance |
| c.1024G>A | Missense | <0.01% | p.Val342Met; uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Start codon loss (c.1A>G) likely abolishes protein translation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • integral component of membrane (GO:0016021) | • plasma membrane (GO:0005886) |
| • fusion of virus membrane with host plasma membrane (GO:0019064) | • protein binding (GO:0005515) |
| • host cell surface receptor binding (GO:0046789) |
Pathways
• Endogenous retroviral envelope protein-mediated cell-cell fusion
• Placenta development
Protein Summary
Syncytin-2 (UniProt Q9Y6I3) is a 538-amino-acid envelope glycoprotein with a signal peptide, surface unit (SU), and transmembrane (TM) domain. It mediates pH-dependent cell-cell fusion via interaction with the receptor MFSD2A. The protein is N-glycosylated and contains a fusion peptide critical for membrane fusion. It is predominantly expressed in placental syncytiotrophoblasts and is essential for proper placental architecture.
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