ERVFRD-1 endogenous retrovirus group FRD member 1, envelope [Homo sapiens (human)] - Gene

Summary

Official Symbol: ERVFRD-1provided by HGNC
Official Full Name: endogenous retrovirus group FRD member 1, envelopeprovided by HGNC
Primary source: HGNC:HGNC:33823
See related: Ensembl:ENSG00000244476 MIM:610524; AllianceGenome:HGNC:33823
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: envFRD; UNQ6191; ERVFRDE1; GLLL6191; HERV-FRD; HERV-W/FRD
Summary: Many different human endogenous retrovirus (HERV) families are expressed in normal placental tissue at high levels, suggesting that HERVs are functionally important in reproduction. This gene is part of a human endogenous retrovirus provirus on chromosome 6 that has inactivating mutations in the gag and pol genes. This gene is the envelope glycoprotein gene which appears to have been selectively preserved. The gene's protein product plays a major role in placental development and trophoblast fusion. The protein has the characteristics of a typical retroviral envelope protein, including a cleavage site that separates the surface (SU) and transmembrane (TM) proteins which form a heterodimer. [provided by RefSeq, Jun 2012]
Expression: Biased expression in placenta (RPKM 15.8) and lung (RPKM 0.4) See more
Orthologs: all
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Genomic context

Location:: 6p24.2

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (11102489..11111725, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (10970408..10979644, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (11102722..11111958, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Transgenic expression of the HERV-W envelope protein leads to polarized glial cell populations and a neurodegenerative environment.
Title: Transgenic expression of the HERV-W envelope protein leads to polarized glial cell populations and a neurodegenerative environment.
Interaction between Long Noncoding RNAs and Syncytin-1/Syncytin-2 Genes and Transcripts: How Noncoding RNAs May Affect Pregnancy in Patients with Systemic Lupus Erythematosus.
Title: Interaction between Long Noncoding RNAs and Syncytin-1/Syncytin-2 Genes and Transcripts: How Noncoding RNAs May Affect Pregnancy in Patients with Systemic Lupus Erythematosus.
Structural insights into the lysophospholipid brain uptake mechanism and its inhibition by syncytin-2.
Title: Structural insights into the lysophospholipid brain uptake mechanism and its inhibition by syncytin-2.
HERV-W envelope expression in blood leukocytes as a marker of disease severity of COVID-19.
Title: HERV-W envelope expression in blood leukocytes as a marker of disease severity of COVID-19.
Endogenous retrovirus-encoded Syncytin-2 contributes to exosome-mediated immunosuppression of T cellsdagger.
Title: Endogenous retrovirus-encoded Syncytin-2 contributes to exosome-mediated immunosuppression of T cells†.
There was a difference (p < 0.0001) between trisomy 7 and other patient groups and controls, regarding to the expression of syncytin-1 gene. Numerous mutations in the syncytin-1 and syncytin-2 genes (on the expression sites) were detected, and the mutation rate was higher in the syncytin-1 gene compared to the syncytin-2 gene in the patient and in the control groups (p < 0.001)
Title: Expression of the syncytin-1 and syncytin-2 genes in the trophoblastic tissue of the early pregnancy losses with normal and abnormal karyotypes.
genetic predisposition in ERVFRDE-1 may be associated with an increased risk of preeclampsia. This polymorphism is possibly involved in the regulation of syncytin-2 expression in preeclamptic placenta.
Title: A tag SNP in syncytin-2 3-UTR significantly correlates with the risk of severe preeclampsia.
N-glycans at residues 133, 312, 332 and 443 of syncytin-2 are required for optimal fusion induction, and that single-nucleotide polymorphism C46R, N118S, T367M, R417H, V483I and T522M can alter the fusogenic function of syncytin-2.
Title: Effects of individually silenced N-glycosylation sites and non-synonymous single-nucleotide polymorphisms on the fusogenic function of human syncytin-2.
Decreased syncytin-2 and MFSD2 proteins in gestational diabetic placentas might cause abnormal syncytiotrophoblast formation and possibly be involved in the pathology
Title: Altered expression of human endogenous retroviruses syncytin-1, syncytin-2 and their receptors in human normal and gestational diabetic placenta.
ERVWE1, ERVFRDE1 and ERV3 transcription was down-regulated in hydatidiform moles and gestational trophoblastic neoplasia.
Title: Expression patterns of ERVWE1/Syncytin-1 and other placentally expressed human endogenous retroviruses along the malignant transformation process of hydatidiform moles.

Submit: New GeneRIF Correction See all GeneRIFs (20)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC228468P4 (e-PCR)
- UniSTS:272162

SHGC-33794 (e-PCR)
- UniSTS:81223

WIAF-1567 (e-PCR)
- UniSTS:76891

AL031214 (e-PCR)
- UniSTS:9084

RH17888 (e-PCR)
- UniSTS:46826

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within myoblast fusion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in syncytium formation	IDA Inferred from Direct Assay more info	PubMed
involved_in syncytium formation by plasma membrane fusion	IBA Inferred from Biological aspect of Ancestor more info
involved_in syncytium formation by plasma membrane fusion	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: syncytin-2

Names: HERV-FRD provirus ancestral Env polyprotein; HERV-FRD_6p24.1 provirus ancestral Env polyprotein; endogenous retrovirus group FRD, member 1; envelope polyprotein; syncytin 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.