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] See more...

Aliases for VGLL2 Gene

Aliases for VGLL2 Gene

  • Vestigial Like Family Member 2 2 3 5
  • Transcription Cofactor Vestigial-Like Protein 2 3 4
  • VITO1 3 4
  • Vestigial And Tondu Related Protein 1 3
  • Vestigial-Like Family Member 2 2
  • Vestigial Like 2 (Drosophila) 2
  • Vestigial Like 2 3
  • Protein VITO1 4
  • Vgl-2 4
  • VGL2 3

External Ids for VGLL2 Gene

Previous GeneCards Identifiers for VGLL2 Gene

  • GC06P117586
  • GC06P117632
  • GC06P117693
  • GC06P115167

Summaries for VGLL2 Gene

Entrez Gene Summary for VGLL2 Gene

  • 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]

GeneCards Summary for VGLL2 Gene

VGLL2 (Vestigial Like Family Member 2) is a Protein Coding gene. Diseases associated with VGLL2 include Cellular Congenital Mesoblastic Nephroma and Spindle Cell Rhabdomyosarcoma. Gene Ontology (GO) annotations related to this gene include transcription coactivator activity. An important paralog of this gene is VGLL3.

UniProtKB/Swiss-Prot Summary for VGLL2 Gene

  • May act as a specific coactivator for the mammalian TEFs. May play a role in the development of skeletal muscles.

Additional gene information for VGLL2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for VGLL2 Gene

Genomics for VGLL2 Gene

GeneHancer (GH) Regulatory Elements for VGLL2 Gene

Promoters and enhancers for VGLL2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J117264 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 513.8 +2.0 1979 6.3 CTCF USF1 ZNF10 ZIC2 ZBTB10 ZBTB26 RELA ZNF341 EZH2 ZFP36 VGLL2 KPNA5 ENSG00000287253 LOC105377964 RF00017-5744
GH06J117272 Enhancer 0.7 ENCODE dbSUPER 13.4 +7.2 7185 1.7 ZNF316 MAFF MAFK ZFHX2 MAFG ZNF366 EGR2 EZH2 SUZ12 PRDM1 VGLL2 RF00017-5744
GH06J117165 Enhancer 1 Ensembl ENCODE dbSUPER 7.9 -97.4 -97418 4.9 ZIC2 TRIM28 CTCF OSR2 FOS GATA3 ZNF335 ZNF843 HIC1 PRDM6 HSALNG0053042 VGLL2 NEPNP HSALNG0053043
GH06J117287 Enhancer 0.5 dbSUPER 11.8 +24.2 24231 4.7 TRIM28 RBM25 ZNF335 SCRT1 ZBTB21 ZNF558 PRDM10 ZNF692 ZBTB20 VGLL2 RF00017-5744 RN7SKP18 lnc-VGLL2-1 ROS1
GH06J117231 Enhancer 0.3 ENCODE 16.4 -33.0 -33015 2.5 CEBPB CEBPA VGLL2 AB755814 HSALNG0053043
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around VGLL2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for VGLL2

Top Transcription factor binding sites by QIAGEN in the VGLL2 gene promoter:
  • HOXA9
  • HOXA9B
  • HSF2
  • Meis-1
  • N-Myc

Genomic Locations for VGLL2 Gene

Genomic Locations for VGLL2 Gene
chr6:117,265,558-117,273,565
(GRCh38/hg38)
Size:
8,008 bases
Orientation:
Plus strand
chr6:117,586,721-117,594,728
(GRCh37/hg19)
Size:
8,008 bases
Orientation:
Plus strand

Genomic View for VGLL2 Gene

Genes around VGLL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
VGLL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for VGLL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for VGLL2 Gene

Proteins for VGLL2 Gene

  • Protein details for VGLL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N8G2-VGLL2_HUMAN
    Recommended name:
    Transcription cofactor vestigial-like protein 2
    Protein Accession:
    Q8N8G2
    Secondary Accessions:
    • Q8WWX1

    Protein attributes for VGLL2 Gene

    Size:
    317 amino acids
    Molecular mass:
    33426 Da
    Quaternary structure:
    • Interacts with TEFs. Binds to TEAD1/TEF1.

    Alternative splice isoforms for VGLL2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for VGLL2 Gene

Post-translational modifications for VGLL2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for VGLL2 Gene

No data available for DME Specific Peptides for VGLL2 Gene

Domains & Families for VGLL2 Gene

Gene Families for VGLL2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for VGLL2 Gene

Blocks:
  • Vestigial/tondu
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for VGLL2 Gene

GenScript: Design optimal peptide antigens:
  • Vestigial like 2 (Drosophila) (Q5H8X9_HUMAN)
  • Protein VITO1 (VGLL2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N8G2

UniProtKB/Swiss-Prot:

VGLL2_HUMAN :
  • Belongs to the vestigial family.
Family:
  • Belongs to the vestigial family.
genes like me logo Genes that share domains with VGLL2: view

Function for VGLL2 Gene

Molecular function for VGLL2 Gene

UniProtKB/Swiss-Prot Function:
May act as a specific coactivator for the mammalian TEFs. May play a role in the development of skeletal muscles.

Phenotypes From GWAS Catalog for VGLL2 Gene

Gene Ontology (GO) - Molecular Function for VGLL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003713 transcription coactivator activity IEA --
GO:0005515 protein binding IPI 25416956
GO:0008022 protein C-terminus binding IEA --
genes like me logo Genes that share ontologies with VGLL2: view
genes like me logo Genes that share phenotypes with VGLL2: view

Animal Models for VGLL2 Gene

MGI Knock Outs for VGLL2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for VGLL2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for VGLL2 Gene

Localization for VGLL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for VGLL2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for VGLL2 gene
Compartment Confidence
nucleus 4
plasma membrane 1
extracellular 1
cytoskeleton 1
cytosol 1

Gene Ontology (GO) - Cellular Components for VGLL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with VGLL2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for VGLL2 Gene

Pathways & Interactions for VGLL2 Gene

PathCards logo

SuperPathways for VGLL2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for VGLL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007519 skeletal muscle tissue development IEA --
GO:0045944 positive regulation of transcription by RNA polymerase II IEA --
genes like me logo Genes that share ontologies with VGLL2: view

No data available for Pathways by source and SIGNOR curated interactions for VGLL2 Gene

Drugs & Compounds for VGLL2 Gene

No Compound Related Data Available

Transcripts for VGLL2 Gene

mRNA/cDNA for VGLL2 Gene

2 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for VGLL2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for VGLL2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4
SP1:
SP2: -

Relevant External Links for VGLL2 Gene

GeneLoc Exon Structure for
VGLL2

Expression for VGLL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for VGLL2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for VGLL2 Gene

This gene is overexpressed in Muscle - Skeletal (x48.1).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for VGLL2

SOURCE GeneReport for Unigene cluster for VGLL2 Gene:

Hs.99324

mRNA Expression by UniProt/SwissProt for VGLL2 Gene:

Q8N8G2-VGLL2_HUMAN
Tissue specificity: Skeletal muscle.

Evidence on tissue expression from TISSUES for VGLL2 Gene

  • Muscle(4.6)
genes like me logo Genes that share expression patterns with VGLL2: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for VGLL2 Gene

Orthologs for VGLL2 Gene

This gene was present in the common ancestor of animals.

Orthologs for VGLL2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia VGLL2 31 30
  • 99.47 (n)
OneToOne
dog
(Canis familiaris)
Mammalia VGLL2 31 30
  • 91.56 (n)
OneToOne
cow
(Bos Taurus)
Mammalia VGLL2 31 30
  • 88.89 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Vgll2 17 31 30
  • 85.88 (n)
rat
(Rattus norvegicus)
Mammalia Vgll2 30
  • 85.39 (n)
oppossum
(Monodelphis domestica)
Mammalia VGLL2 31
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves VGLL2 31 30
  • 74.28 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia VGLL2 31
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia vgll2 30
  • 65.59 (n)
MGC75898 30
African clawed frog
(Xenopus laevis)
Amphibia vgll2-prov 30
zebrafish
(Danio rerio)
Actinopterygii si:dkeyp-93d12.1 30
  • 68.66 (n)
vgll2a 31
  • 60 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4737 30
fruit fly
(Drosophila melanogaster)
Insecta vg 31
  • 14 (a)
OneToMany
Species where no ortholog for VGLL2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for VGLL2 Gene

ENSEMBL:
Gene Tree for VGLL2 (if available)
TreeFam:
Gene Tree for VGLL2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for VGLL2: view image

Paralogs for VGLL2 Gene

Paralogs for VGLL2 Gene

genes like me logo Genes that share paralogs with VGLL2: view

Variants for VGLL2 Gene

Additional dbSNP identifiers (rs#s) for VGLL2 Gene

Structural Variations from Database of Genomic Variants (DGV) for VGLL2 Gene

Variant ID Type Subtype PubMed ID
esv2759465 CNV loss 17122850
nsv830785 CNV gain 17160897
nsv950498 CNV deletion 24416366

Variation tolerance for VGLL2 Gene

Residual Variation Intolerance Score: 64.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.97; 36.48% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for VGLL2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
VGLL2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for VGLL2 Gene

Disorders for VGLL2 Gene

MalaCards: The human disease database

(11) MalaCards diseases for VGLL2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
cellular congenital mesoblastic nephroma
spindle cell rhabdomyosarcoma
pediatric fibrosarcoma
  • childhood fibrosarcoma
congenital fibrosarcoma
  • infantile fibrosarcoma
myofibroma
  • lipoleiomyoma
- elite association - COSMIC cancer census association via MalaCards
Search VGLL2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for VGLL2

genes like me logo Genes that share disorders with VGLL2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for VGLL2 Gene

Publications for VGLL2 Gene

  1. Mammalian vestigial-like 2, a cofactor of TEF-1 and MEF2 transcription factors that promotes skeletal muscle differentiation. (PMID: 12376544) Maeda T … Stewart AF (The Journal of biological chemistry 2002) 2 3 4 23 54
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  3. The STUbL RNF4 regulates protein group SUMOylation by targeting the SUMO conjugation machinery. (PMID: 29180619) Kumar R … Vertegaal ACO (Nature communications 2017) 3 54
  4. A Molecular Study of Pediatric Spindle and Sclerosing Rhabdomyosarcoma: Identification of Novel and Recurrent VGLL2-related Fusions in Infantile Cases. (PMID: 26501226) Alaggio R … Antonescu CR (The American journal of surgical pathology 2016) 3 54
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 54

Products for VGLL2 Gene

Sources for VGLL2 Gene