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ERVV-2 endogenous retrovirus group V member 2, envelope [ Homo sapiens (human) ]

Gene ID: 100271846, updated on 17-Apr-2024

Summary

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Official Symbol
ERVV-2provided by HGNC
Official Full Name
endogenous retrovirus group V member 2, envelopeprovided by HGNC
Primary source
HGNC:HGNC:39051
See related
Ensembl:ENSG00000268964 AllianceGenome:HGNC:39051
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ENVV2; HERV-V2
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 an HERV provirus on human chromosome 19 that has inactivating mutations in the gag and pol genes. This envelope glycoprotein gene appears to have been selectively preserved. The gene's protein product is expressed in the placenta and acts as a syncytin in Old World monkeys, but has lost the fusogenic activity in humans and other primate lineages. [provided by RefSeq, Jun 2015]
Expression
Restricted expression toward placenta (RPKM 9.6) See more
Orthologs
all
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Genomic context

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Location:
19q13.41
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (53044740..53051680)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (56127328..56134257)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (53547993..53554933)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904758 Neighboring gene ARPC1A pseudogene 2 Neighboring gene endogenous retrovirus group V member 1, envelope Neighboring gene NANOG hESC enhancer GRCh37_chr19:53531491-53532029 Neighboring gene uncharacterized LOC124904762 Neighboring gene zinc finger protein 160

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: 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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Related articles in PubMed

  1. Transcriptional and functional studies of Human Endogenous Retrovirus envelope EnvP(b) and EnvV genes in human trophoblasts. Vargas A, et al. Virology, 2012 Mar 30. PMID 22277806
  2. Functional characterization of two newly identified Human Endogenous Retrovirus coding envelope genes. Blaise S, et al. Retrovirology, 2005 Mar 14. PMID 15766379, Free PMC Article
  3. Reactivation of codogenic endogenous retroviral (ERV) envelope genes in human endometrial carcinoma and prestages: Emergence of new molecular targets. Strissel PL, et al. Oncotarget, 2012 Oct. PMID 23085571, Free PMC Article
  4. Gene conversion and purifying selection of a placenta-specific ERV-V envelope gene during simian evolution. Kjeldbjerg AL, et al. BMC Evol Biol, 2008 Sep 30. PMID 18826608, Free PMC Article
  5. Syncytins expressed in human placental trophoblast. Roberts RM, et al. Placenta, 2021 Sep 15. PMID 33504453, Free PMC Article

See all (9) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

General gene information

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Homology

Gene Ontology Provided by GOA

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

General protein information

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Preferred Names
endogenous retrovirus group V member 2 Env polyprotein
Names
HERV-V_19q13.41 provirus ancestral Env polyprotein 2
endogenous retrovirus HSV2
endogenous retrovirus group V, member 2
envelope glycoprotein ENVV2
envelope protein ENVV2
mac-syncytin-3

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_001191055.2 → NP_001177984.1  endogenous retrovirus group V member 2 Env polyprotein precursor

    See identical proteins and their annotated locations for NP_001177984.1

    Status: REVIEWED

    Source sequence(s)
    AC010328, DA863698
    Consensus CDS
    CCDS59420.1
    UniProtKB/Swiss-Prot
    B6SEH9
    UniProtKB/TrEMBL
    M9QSX5
    Related
    ENSP00000472919.1, ENST00000601417.3
    Conserved Domains (2) summary
    cd09950
    Location:355 → 426
    ENVV1-like_HR1-HR2; heptad repeat 1-heptad repeat 2 region (ectodomain) of the transmembrane subunit of the human endogenous retrovirus ENVV1, and related domains
    pfam00429
    Location:190 → 486
    TLV_coat; ENV polyprotein (coat polyprotein)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    53044740..53051680
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    56127328..56134257
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
B6SEH9.1 GenPept UniProtKB/Swiss-Prot:B6SEH9

Gene LinkOut

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