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

    Gene ID: 100271846, updated on 17-Sep-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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    See ERVV-2 in Genome Data Viewer
    Location:
    19q13.41
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (53044740..53051680)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (56127328..56134257)
    RS_2024_09 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 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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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