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

Gene ID: 405754, updated on 2-Nov-2024

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
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Genomic context

See ERVFRD-1 in Genome Data Viewer
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_000006.12Genomic Context describing neighboring genes Neighboring gene ELOVL fatty acid elongase 2 Neighboring gene siah E3 ubiquitin protein ligase family member 3 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16908 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:11045068-11045568 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:11045569-11046069 Neighboring gene ELOVL2 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:11093674-11094214 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:11094215-11094756 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16910 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:11126939-11127440 Neighboring gene small integral membrane protein 13 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23978 Neighboring gene Sharpr-MPRA regulatory region 2452 Neighboring gene PAGE4 pseudogene 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:11185257-11186456 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:11189930-11190701 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:11190702-11191472 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:11195391-11196257 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:11196258-11197123 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23979 Neighboring gene uncharacterized LOC124901256 Neighboring gene neural precursor cell expressed, developmentally down-regulated 9

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ41944, FLJ90611, MGC87585

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

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.

mRNA and Protein(s)

  1. NM_207582.3NP_997465.1  syncytin-2 preproprotein

    See identical proteins and their annotated locations for NP_997465.1

    Status: VALIDATED

    Source sequence(s)
    AL136139, BC068585
    Consensus CDS
    CCDS4519.1
    UniProtKB/Swiss-Prot
    P60508
    Related
    ENSP00000420174.1, ENST00000472091.2
    Conserved Domains (1) summary
    pfam00429
    Location:296486
    TLV_coat; ENV polyprotein (coat polyprotein)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    11102489..11111725 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    10970408..10979644 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)