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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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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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