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    VGLL2 vestigial like family member 2 [ Homo sapiens (human) ]

    Gene ID: 245806, updated on 27-Nov-2024

    Summary

    Official Symbol
    VGLL2provided by HGNC
    Official Full Name
    vestigial like family member 2provided by HGNC
    Primary source
    HGNC:HGNC:20232
    See related
    Ensembl:ENSG00000170162 MIM:609979; AllianceGenome:HGNC:20232
    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
    VGL2; VITO1
    Summary
    This gene encodes a protein with a transcriptional enhancer factor 1 (TEF-1) interaction domain. The encoded protein may act as a co-factor of TEF-1 regulated gene expression during skeletal muscle development. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Jul 2012]
    Expression
    Biased expression in heart (RPKM 1.5), prostate (RPKM 0.6) and 4 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See VGLL2 in Genome Data Viewer
    Location:
    6q22.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (117265558..117273630)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (118449447..118457457)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (117586721..117594728)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:117393735-117394283 Neighboring gene RNA, 5S ribosomal pseudogene 214 Neighboring gene NANOG hESC enhancer GRCh37_chr6:117407945-117408537 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:117431508-117432046 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:117432047-117432583 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:117565651-117566217 Neighboring gene Sharpr-MPRA regulatory region 7973 Neighboring gene uncharacterized LOC105377964 Neighboring gene RN7SK pseudogene 18 Neighboring gene RN7SK pseudogene 51 Neighboring gene ROS proto-oncogene 1, receptor tyrosine kinase

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transcription coactivator activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in skeletal muscle tissue development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    transcription cofactor vestigial-like protein 2
    Names
    Vestigial and Tondu related protein 1
    vestigial like 2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_153453.1NP_703154.1  transcription cofactor vestigial-like protein 2 isoform 2

      See identical proteins and their annotated locations for NP_703154.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AY056583
      Consensus CDS
      CCDS5114.1
      UniProtKB/Swiss-Prot
      Q8N8G2
      Related
      ENSP00000305405.5, ENST00000352536.7
      Conserved Domains (1) summary
      pfam07545
      Location:80109
      Vg_Tdu; Vestigial/Tondu family
    2. NM_182645.3NP_872586.1  transcription cofactor vestigial-like protein 2 isoform 1

      See identical proteins and their annotated locations for NP_872586.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AJ578053, AY056583
      Consensus CDS
      CCDS5115.1
      UniProtKB/Swiss-Prot
      Q8N8G2, Q8WWX1
      Related
      ENSP00000320957.5, ENST00000326274.6
      Conserved Domains (1) summary
      pfam07545
      Location:79109
      Vg_Tdu; Vestigial/Tondu family

    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
      117265558..117273630
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005266883.3XP_005266940.1  transcription cofactor vestigial-like protein 2 isoform X1

      See identical proteins and their annotated locations for XP_005266940.1

      Conserved Domains (1) summary
      pfam07545
      Location:79109
      Vg_Tdu; Vestigial/Tondu family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      118449447..118457457
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054354993.1XP_054210968.1  transcription cofactor vestigial-like protein 2 isoform X1