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

    Gene ID: 245806, updated on 5-Mar-2024

    Summary

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    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
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    Genomic context

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    See VGLL2 in Genome Data Viewer
    Location:
    6q22.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (117265558..117273630)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (118449447..118457457)
    105.20220307 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

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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. A Molecular Study of Pediatric Spindle and Sclerosing Rhabdomyosarcoma: Identification of Novel and Recurrent VGLL2-related Fusions in Infantile Cases. Alaggio R, et al. Am J Surg Pathol, 2016 Feb. PMID 26501226, Free PMC Article
    2. Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases. Rosenfeld JA, et al. Neurogenetics, 2012 Feb. PMID 22218741
    3. VGLL2-NCOA2 leverages developmental programs for pediatric sarcomagenesis. Watson S, et al. Cell Rep, 2023 Jan 31. PMID 36656711, Free PMC Article
    4. VITO-1, a novel vestigial related protein is predominantly expressed in the skeletal muscle lineage. Mielcarek M, et al. Mech Dev, 2002 Dec. PMID 14516696
    5. A new perspective on the interaction between the Vg/VGLL1-3 proteins and the TEAD transcription factors. Mesrouze Y, et al. Sci Rep, 2020 Oct 15. PMID 33060790, Free PMC Article

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. VGLL2-NCOA2 leverages developmental programs for pediatric sarcomagenesis.
      Title: VGLL2-NCOA2 leverages developmental programs for pediatric sarcomagenesis.
    2. A new perspective on the interaction between the Vg/VGLL1-3 proteins and the TEAD transcription factors.
      Title: A new perspective on the interaction between the Vg/VGLL1-3 proteins and the TEAD transcription factors.
    3. Identify novel and recurrent VGLL2-related fusions in pediatric spindle and sclerosing rhabdomyosarcomas.
      Title: A Molecular Study of Pediatric Spindle and Sclerosing Rhabdomyosarcoma: Identification of Novel and Recurrent VGLL2-related Fusions in Infantile Cases.
    4. VITO-1 is a crucial new cofactor of the muscle regulatory programme
      Title: VITO-1 is an essential cofactor of TEF1-dependent muscle-specific gene regulation.
    5. role in promoting skeletal muscle differention
      Title: Mammalian vestigial-like 2, a cofactor of TEF-1 and MEF2 transcription factors that promotes skeletal muscle differentiation.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

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

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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

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    Preferred Names
    transcription cofactor vestigial-like protein 2
    Names
    Vestigial and Tondu related protein 1
    vestigial like 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_153453.1 → NP_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:80 → 109
      Vg_Tdu; Vestigial/Tondu family

    2. NM_182645.3 → NP_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:79 → 109
      Vg_Tdu; Vestigial/Tondu family

    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_000006.12 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_005266883.3 → XP_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:79 → 109
      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_054354993.1 → XP_054210968.1  transcription cofactor vestigial-like protein 2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N8G2.1 GenPept UniProtKB/Swiss-Prot:Q8N8G2

    Gene LinkOut

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

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