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VGLL2 Gene

protein-coding   GIFtS: 46
GCID: GC06P117632

Vestigial-Like Family Member 2

(Previous name: vestigial like 2 (Drosophila))
  Search for VGLL2
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Vestigial-Like Family Member 21 2     Vestigial And Tondu Related Protein 12
VITO12 3 5     Vestigial Like 22
VGL22 5     Vgl-23
Vestigial Like 2 (Drosophila)1     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


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include transcription coactivator activity. An important paralog of this gene is VGLL3.

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




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000006.11  NT_025741.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the VGLL2 gene promoter:
         HOXA9B   HOXA9   N-Myc   HSF2   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidVGLL2 promoter sequence
   Search Chromatin IP Primers for VGLL2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
Secondary accessions: Q8WWX1
Alternative splicing: 2 isoforms:  Q8N8G2-1   Q8N8G2-2   

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

Explore proteomics data for VGLL2 at MOPED


See VGLL2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

ENSEMBL proteins: 
 ENSP00000305405   ENSP00000320957  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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2 InterPro protein domains:
 IPR006627 TDU_repeat
 IPR011520 Vg_Tdu

Graphical View of Domain Structure for InterPro Entry Q8N8G2

ProtoNet protein and cluster: Q8N8G2

1 Blocks protein domain: IPB011520 Vestigial/tondu

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


Find genes that share domains with VGLL2           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

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

     Gene Ontology (GO): 2 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003713transcription coactivator activity IEA--
GO:0005515protein binding ----
     
Find genes that share ontologies with VGLL2           About GenesLikeMe


Phenotypes:
     1 GenomeRNAi human phenotype for VGLL2:
 Synthetic lethal with Ras 

Animal Models:
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
VGLL2_HUMAN, Q8N8G2: Nucleus (By similarity)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytosol2
nucleus2
extracellular1

Gene Ontology (GO): 2 cellular component terms:    About this table

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

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(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for VGLL2
Interactions:

    GeneGlobe Interaction Network for VGLL2

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for VGLL2 (Q8N8G23 ENSP000003209574) via UniProtKB, MINT, STRING, and/or I2D (see all 40)
InteractantInteraction Details
GeneCardExternal ID(s)
MEF2CQ064133, ENSP000003962194I2D: score=1 STRING: ENSP00000396219
TEAD1ENSP000003545884STRING: ENSP00000354588
FAT4ENSP000003778624STRING: ENSP00000377862
JAG1ENSP000002549584STRING: ENSP00000254958
JAG2ENSP000003281694STRING: ENSP00000328169
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Gene Ontology (GO): 4 biological process terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006351transcription, DNA-templated IEA--
GO:0006355regulation of transcription, DNA-templated ----
GO:0007519skeletal muscle tissue development IEA--
GO:0045944positive regulation of transcription from RNA polymerase II promoter IEA--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for VGLL2



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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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 plasmidVGLL2 3' UTR sequence
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Additional mRNA 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:

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

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

(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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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VGLL2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GGGGAAGGCA
VGLL2 Expression
About this image


VGLL2 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 2) fully expand
 
 Bone (Muscoskeletal System)    fully expand to see all 2 entries
         Maxillary Process
 
 Skeletal Muscle (Muscoskeletal System)
VGLL2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

VGLL2 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.99324

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

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In Situ
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(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)
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This gene was present in the common ancestor of animals.

Orthologs for VGLL2 gene from Selected species (see all 13)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Vgll21 , 5 vestigial like 2 homolog (Drosophila)1, 5 85.88(n)1
88.6(a)1
  10 (26.16 cM)5
2150311  NM_153786.11  NP_722481.11 
 520225025 
chicken
(Gallus gallus)
Aves VGLL21 vestigial like 2 (Drosophila) 74.28(n)
72.19(a)
  421735  NM_001145990.1  NP_001139462.1 
lizard
(Anolis carolinensis)
Reptilia VGLL26
vestigial like 2 (Drosophila)
67(a)
1 ↔ 1
1(185646918-185677193)
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 68.66(n)
68.8(a)
  556856  NM_001025486.1  NP_001020657.1 
fruit fly
(Drosophila melanogaster)
Insecta vg6
vestigial
14(a)
1 → many
2R(8771706-8786899)


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

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

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(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for VGLL2 (see all 198)    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
C,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
     Database of Genomic Variants (DGV) 2 variations for VGLL2:    About this table    
Variant IDTypeSubtypePubMed ID
nsv830785CNV Gain17160897
dgv2004e1CNV Complex17122850

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing VGLL2
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(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.)
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OMIM gene information: 609979    OMIM disorders: --


Find genes that share disorders with VGLL2           About GenesLikeMe


Export disorders for VGLL2 gene to outside databases

(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)
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PubMed articles for VGLL2 gene, integrated from 10 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.R. (J. Biol. Chem. 2002)
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
  3. Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases. (PubMed id 22218741)1 Rosenfeld J.A....Shaffer L.G. (Neurogenetics 2012)
  4. Hundreds of variants clustered in genomic loci and biological pathways affect human height. (PubMed id 20881960)1 Lango Allen H....Hirschhorn J.N. (Nature 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. (Genomics 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. (Genome Res. 2004)
  7. VITO-1 is an essential cofactor of TEF1-dependent muscle-specific gene regulation. (PubMed id 14762206)1 GA1nther S....Braun T. (Nucleic Acids Res. 2004)
  8. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)2 Mungall A.J.... Beck S. (Nature 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. (Mech. Dev. 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. (Gene Expr. Patterns 2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

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

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for VGLL2 Pharmacogenomics, SNPs, Pathways

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

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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