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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

VGLL2 Gene

protein-coding   GIFtS: 48
GCID: GC06P117632

vestigial like 2 (Drosophila)
  Search for VGLL2
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Biological research products
for VGLL2    

Aliases
for VGLL2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Vestigial Like 2 (Drosophila)1 2     Vestigial And Tondu Related Protein 12
VITO12 3 5     Vgl-23
VGL22 5     Protein VITO13
Transcription Cofactor Vestigial-Like Protein 22     

External Ids:    HGNC: 202321   Entrez Gene: 2458062   Ensembl: ENSG000001701627   OMIM: 6099795   UniProtKB: Q8N8G23   

Export aliases for VGLL2 gene to outside databases

Previous GC identifers: GC06P117586 GC06P117693 GC06P115167


Summaries
for VGLL2 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for VGLL2:
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)

UniProtKB/Swiss-Prot: VGLL2_HUMAN, Q8N8G2
Function: May act as a specific coactivator for the mammalian TEFs. May play a role in the development of skeletal
muscles




Genomic Views
for VGLL2 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  NT_025741.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the VGLL2 gene promoter:
         HOXA9B   HOXA9   N-Myc   HSF2   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: VGLL2 promoter sequence
   Search SABiosciences Chromatin IP Primers for VGLL2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat VGLL2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6q22.1   Ensembl cytogenetic band:  6q22.1   HGNC cytogenetic band: 6q22.31

VGLL2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
VGLL2 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P117632:  view genomic region     (about GC identifiers)

Start:
 117,586,721 bp from pter      End:
 117,594,728 bp from pter
Size:
 8,008 bases      Orientation:
 plus strand

Proteins
for VGLL2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: VGLL2_HUMAN, Q8N8G2 (See protein sequence)
Recommended Name: Transcription cofactor vestigial-like protein 2  
Size: 317 amino acids; 33426 Da
Subunit: Interacts with TEFs. Binds to TEAD1/TEF1
Subcellular location: Nucleus (By similarity)
Secondary accessions: Q8WWX1
Alternative splicing: 2 isoforms:  Q8N8G2-1   Q8N8G2-2   

Explore the universe of human proteins at neXtProt for VGLL2: NX_Q8N8G2

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8N8G2

    • VGLL2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_703154.1  NP_872586.1  

    ENSEMBL proteins: 
     ENSP00000305405   ENSP00000320957  

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    Uscn Proteins for VGLL2

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IEA--


    VGLL2 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for VGLL2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    VGLL2 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR006627 TDU_repeat
     IPR011520 Vg_Tdu

    Graphical View of Domain Structure for InterPro Entry Q8N8G2

    ProtoNet protein and cluster: Q8N8G2

    1 Blocks protein family: IPB011520 Vestigial/tondu

    UniProtKB/Swiss-Prot: VGLL2_HUMAN, Q8N8G2
    Similarity: Belongs to the vestigial family


    Function
    for VGLL2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: VGLL2_HUMAN, Q8N8G2
    Function: May act as a specific coactivator for the mammalian TEFs. May play a role in the development of skeletal
    muscles

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat VGLL2
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    hsa-miR-140-3p hsa-miR-3679-3p hsa-miR-502-5p hsa-miR-516b hsa-miR-4297 hsa-miR-130a* hsa-miR-23c hsa-miR-499-5p
    SwitchGear 3'UTR luciferase reporter plasmid: VGLL2 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003713transcription coactivator activity IEA--
    GO:0005515protein binding ----


    VGLL2 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for VGLL2:
     Synthetic lethal with Ras 


    Pathways & Interactions
    for VGLL2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for VGLL2

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for VGLL2 (Q8N8G23 ENSP000003209574) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MEF2CQ064133, ENSP000003962194I2D: score=1 STRING: ENSP00000396219
    TEAD1ENSP000003545884STRING: ENSP00000354588
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0007519skeletal muscle tissue development IEA--
    GO:0045944positive regulation of transcription from RNA polymerase II promoter IEA--


    VGLL2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for VGLL2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for VGLL2
    Search CenterWatch for drugs/clinical trials and news about VGLL2 

    Transcripts
    for VGLL2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for VGLL2 gene (2 alternative transcripts): 
    NM_153453.1  NM_182645.3  

    Unigene Cluster for VGLL2:

    Vestigial like 2 (Drosophila)
    Hs.99324  [show with all ESTs]
    Unigene Representative Sequence: NM_182645
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000352536(uc003pxo.3) ENST00000326274(uc003pxn.3)

    miRNA
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    hsa-miR-140-3p hsa-miR-3679-3p hsa-miR-502-5p hsa-miR-516b hsa-miR-4297 hsa-miR-130a* hsa-miR-23c hsa-miR-499-5p
    SwitchGear 3'UTR luciferase reporter plasmid: VGLL2 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for VGLL2 (see all 7)
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    Clone
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    Primer
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    Additional cDNA sequence: 

    AJ578053.1 AK096878.1 AY056583.1 BC069316.1 BC100798.2 BC100799.1 BC118545.1 BC118622.1 

    2 DOTS entries:

    DT.453959  DT.101978559 

    19 AceView cDNA sequences:

    AY056583 NM_153453 AI004234 AJ578053 BC069316 F37053 NM_182645 AI419661 
    AI039121 BX500052 AK096878 AA453413 AI292308 AI077557 F28435 AI276196 
    AI382386 AA453919 F32027 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for VGLL2    About this scheme

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


    ECgene alternative splicing isoforms for VGLL2

    Expression
    for VGLL2 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    VGLL2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGGGAAGGCA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    VGLL2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BoneMandibular ProcessBone
    BoneMaxillary ProcessBone
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See VGLL2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for VGLL2

    SOURCE GeneReport for Unigene cluster: Hs.99324

    UniProtKB/Swiss-Prot: VGLL2_HUMAN, Q8N8G2
    Tissue specificity: Skeletal muscle

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    In Situ
    Assay Products:     
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    Orthologs
    for VGLL2 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of chordates.

    Orthologs for VGLL2 gene from 4/13 species (see all 13)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves VGLL21 vestigial like 2 (Drosophila) 76.41(n)
    75.42(a)    		   421735  NM_001145990.1  NP_001139462.1 
    lizard
    (Anolis carolinensis)    		 Reptilia VGLL26
    		 --
    		 72(a)
    		 1 ↔ 1
    		 1(185652224-185676979)
    African clawed frog
    (Xenopus laevis)    		 Amphibia vgll2-prov2 vestigial like 2 homolog (Drosophila) 80.96(n)    BC056001.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii si:dkeyp-93d12.11 si:dkeyp-93d12.1 65.96(n)
    64.21(a)    		   556856  NM_001025486.1  NP_001020657.1 


    ENSEMBL Gene Tree for VGLL2 (if available)
    TreeFam Gene Tree for VGLL2 (if available) 

    Paralogs
    for VGLL2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for VGLL2 gene
    VGLL12  VGLL32  

    VGLL2 for paralogs           About GeneDecksing



    Genomic Variants
    for VGLL2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/166 NCBI SNPs in VGLL2 are shown (see all 166)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 6 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1846578001,2
    		--117584996(+) CTTGCA/GCCTGG 2 -- us2k10--------
    rs802548061,2
    		F,--117585021(+) CAGAAG/ACTGGC 2 -- us2k11Minor allele frequency- A:0.03NA 120
    rs4238681,2
    		C,F,A,H,--117585495(+) TTCCGC/TCACCT 2 -- us2k1 tfbs324Minor allele frequency- T:0.33NS EA NA CSA WA 2704
    rs8035961,2
    		C,F,A,H,--117585553(-) TCTTCA/CGTTCT 2 -- us2k117Minor allele frequency- C:0.13NS EA NA WA 2340
    rs4180891,2
    		C,F,A,--117585586(+) CAGAGG/AGCTTG 2 -- us2k18Minor allele frequency- A:0.38MN NA CSA WA EA 549
    rs729594381,2
    		C,--117585594(+) TTGGTG/TGGGGG 2 -- us2k15Minor allele frequency- T:0.10NA WA EA 362
    rs729594421,2
    		--117585623(+) GTAGGA/GTCGCA 2 -- us2k10--------
    rs1894475901,2
    		--117585650(+) CAGCAG/TACCTC 2 -- us2k10--------
    rs4495461,2
    		C,F,--117585651(+) AGCAGA/GCCTCT 2 -- us2k12Minor allele frequency- G:0.04MN WA 302
    rs1431835651,2
    		--117585680(+) GAAAGC/GGGTGA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for VGLL2 (117586721 - 117594728 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for VGLL2
         3 CNVs: 81559 3635 2653

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    Disorders / Diseases
    for VGLL2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    VGLL2 for disorders           About MalaCards

    VGLL2 for disorders           About GeneDecksing

    OMIM gene information: 609979    OMIM disorders: --


    Export disorders for VGLL2 gene to outside databases

    Publications
    for VGLL2 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for VGLL2 gene, integrated from 9 sources (see all 14):
    (articles sorted by number of sources associating them with VGLL2)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Mammalian vestigial-like 2, a cofactor of TEF-1 and MEF2 transcription factors that promotes skeletal muscle differentiation. (PubMed id 12376544)1, 2, 3, 9 Maeda T.... Stewart A.F. (2002)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Genotype-phenotype correlation in interstitial 6q dele tions: a report of 12 new cases. (PubMed id 22218741)1 Rosenfeld J.A....Shaffer L.G. (2012)
    4. Hundreds of variants clustered in genomic loci and bi ological pathways affect human height. (PubMed id 20881960)1 Lango Allen H....Hirschhorn J.N. (2010)
    5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    7. VITO-1 is an essential cofactor of TEF1-dependent muscle-specific gene regulation. (PubMed id 14762206)1 Gunther S....Braun T. (2004)
    8. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)2 Mungall A.J.... Beck S. (2003)
    9. VITO-1, a novel vestigial related protein is predominantly expressed in the skeletal muscle lineage. (PubMed id 14516696)1 Mielcarek M....Braun T. (2002)
    10. VITO-1, a novel vestigial related protein is predominantly expressed in the skeletal muscle lineage. (PubMed id 12617818)2 Mielcarek M.... Braun T. (2002)

    External Searches for VGLL2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing VGLL2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 245806 HGNC: 20232 AceView: VGLL2 Ensembl:ENSG00000170162 euGenes: HUgn245806
    ECgene: VGLL2 H-InvDB: VGLL2

    Other Databases showing VGLL2 gene

    (According to HUGE)
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    Specialized Databases showing VGLL2 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for VGLL2 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for VGLL2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for VGLL2 gene:
    Search GeneIP for patents involving VGLL2

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