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FRG2 Gene

protein-coding   GIFtS: 38
GCID: GC04M190945

FSHD Region Gene 2

  See FRG2-related diseases
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
FSHD Region Gene 21 2
FRG2A2 3
FSHD Region Gene 2 Protein2 3
Protein FRG22

External Ids:    HGNC: 191361   Entrez Gene: 4488312   Ensembl: ENSG000002050977   OMIM: 6090325   UniProtKB: Q64ET83   

Export aliases for FRG2 gene to outside databases

Previous GC identifers: GC10M135327 GC04U900480 GC04M191182


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for FRG2 Gene:
FRG2 (FSHD region gene 2) is a protein-coding gene. Diseases associated with FRG2 include facioscapulohumeral muscular dystrophy 2, and facioscapulohumeral muscular dystrophy. An important paralog of this gene is LOC651959.


(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_000004.11  NC_018915.2  NT_016354.20  NT_187650.1  
Regulatory elements:
   Regulatory transcription factor binding sites in the FRG2 gene promoter:
         TBP   SREBP-1a   AML1a   SREBP-1c   SEF-1 (1)   POU6F1 (c2)   SREBP-1b   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFRG2 promoter sequence
   Search Chromatin IP Primers for FRG2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FRG2


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

Entrez Gene cytogenetic band: 4q35   Ensembl cytogenetic band:  4q35.2   HGNC cytogenetic band: 4q35.2

FRG2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FRG2 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M190945:  view genomic region     (about GC identifiers)

Start:
190,945,506 bp from pter      End:
190,948,412 bp from pter
Size:
2,907 bases      Orientation:
minus strand

1 alternative location:
Chr4-,NW_003571034 117,297-120,187     

(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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: FRG2_HUMAN, Q64ET8 (See protein sequence)
Recommended Name: Protein FRG2  
Size: 278 amino acids; 30490 Da

Explore the universe of human proteins at neXtProt for FRG2: NX_Q64ET8

Explore proteomics data for FRG2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See FRG2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001005217.1  NP_001273749.1  

    ENSEMBL proteins: 
     ENSP00000424015   ENSP00000368039  

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    antibodies-online kits for FRG2 (2 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR026245 FRG2

    Graphical View of Domain Structure for InterPro Entry Q64ET8

    ProtoNet protein and cluster: Q64ET8

    UniProtKB/Swiss-Prot: FRG2_HUMAN, Q64ET8
    Similarity: Belongs to the FRG2 family


    Find genes that share domains with FRG2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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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    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for FRG2

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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
    FRG2_HUMAN, Q64ET8: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    extracellular1

    Gene Ontology (GO): 1 cellular component term:    About this table

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

    Find genes that share ontologies with FRG2           About GenesLikeMe


    (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 FRG2
    Interactions:

        Search GeneGlobe Interaction Network for FRG2

    (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
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      Browse compounds at ApexBio 

    Browse Tocris compounds for FRG2



    (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 FRG2 gene (2 alternative transcripts): 
    NM_001005217.1  NM_001286820.1  

    Unigene Cluster for FRG2:

    FSHD region gene 2
    Hs.626907
    Unigene Representative Sequence: AY714545
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000504750 ENST00000378763(uc003izv.3 uc011clh.2)
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    Additional mRNA sequence: 

    AY714545.1 BC144572.1 

    1 DOTS entry:

    DT.40273603 

    GeneLoc Exon Structure


    (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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    FRG2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTCATTTCA
    FRG2 Expression
    About this image


    FRG2 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
     
     Smooth Muscle (Muscoskeletal System)
             Juxtaglomerular Cells Afferent Arteriole
     
     Kidney (Urinary System)
             Juxtaglomerular Cells Afferent Arteriole
    FRG2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FRG2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.626907

    UniProtKB/Swiss-Prot: FRG2_HUMAN, Q64ET8
    Tissue specificity: Expression is undetectable in all tissues tested except for differentiating myoblasts of FSHD
    patients, which display low, yet distinct levels of expression, partly from FRG2, but predominantly originating
    from its homolog on chromosome 10

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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 human and mouse.

    Orthologs for FRG2 gene from Selected species (see all 5)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gm62195
    Gm93261
    predicted gene 62195
    predicted gene 93261
    70.04(n)1
    54.43(a)1
      14 (56.16 cM)5
    6687391  XM_001003396.21  XP_001003396.11 
     1060931505 


    ENSEMBL Gene Tree for FRG2 (if available)
    TreeFam Gene Tree for FRG2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FRG2 gene
    FRG2B1 2  LOC6519592  FRG2C2  
    2 SIMAP similar genes for FRG2 using alignment to 3 protein entries:     FRG2_HUMAN (see all proteins):
    FRG2B    FRG2C

    Find genes that share paralogs with FRG2           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for FRG2
    PGOHUM00000239034 PGOHUM00000238321


    (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 FRG2 (see all 31)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1435851191,2
    C--190947544(+) CTGCTC/GTGTCT 2 T R mis10--------
    rs1996158251,2
    C,F--190947629(+) CACAAT/AGAGAG 1 -- int11Minor allele frequency- A:0.00EU 809
    rs2008170711,2
    C--190949302(+) CTGCCG/TCAGTG 1 -- us2k10--------
    rs2015073441,2
    ----190949890(+) ACTGCG/TTTTTG 1 -- us2k10--------
    rs3746732891,2
    ----190949036(+) AGTCTA/CGTGGA 1 -- us2k10--------
    rs3771189371,2
    ----190947808(+) TTGCTG/TCCTGT 1 -- int10--------
    rs3746592801,2
    ----190949641(+) GGAACC/GAAAAA 1 -- us2k10--------
    rs3713361711,2
    ----190949571(+) GAAAGA/TACAGG 1 -- us2k10--------
    rs2017495011,2
    ----190947570(+) GAACTC/GATTTT 2 I M mis10--------
    rs3685489531,2
    ----190949056(+) CCCCCA/TTCTCA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for FRG2 (190945506 - 190948412 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for FRG2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv471487CNV Duplication19718026
    nsv513204CNV Loss21212237
    dgv5873n71CNV Loss21882294
    nsv10641CNV Loss18304495
    dgv5875n71CNV Gain21882294
    nsv880818CNV Gain21882294
    nsv880553CNV Gain21882294
    nsv482089CNV Gain20164927
    esv23426CNV Gain+Loss19812545

    Site Specific Mutation Identification with PCR Assays
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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: 609032    OMIM disorders: --

    2 diseases for FRG2:    
    About MalaCards
    facioscapulohumeral muscular dystrophy 2    facioscapulohumeral muscular dystrophy

    1 disease from the University of Copenhagen DISEASES database for FRG2:
    Facioscapulohumeral muscular dystrophy

    Find genes that share disorders with FRG2           About GenesLikeMe


    Export disorders for FRG2 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 FRG2 gene, integrated from 10 sources (see all 12):
    (articles sorted by number of sources associating them with FRG2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients. (PubMed id 15520407)1, 2, 3, 9 Rijkers T.... van der Maarel S.M. (J. Med. Genet. 2004)
    2. Inappropriate gene activation in FSHD: a repressor complex binds a chromosomal repeat deleted in dystrophic muscle. (PubMed id 12176321)1, 3 Gabellini D....Tupler R. (Cell 2002)
    3. Expression profiling of FSHD-1 and FSHD-2 cells during myogenic differentiation evidences common and distinctive gene dysregulation patterns. (PubMed id 21695143)1 Cheli S....Meneveri R. (PLoS ONE 2011)
    4. Clinical features of facioscapulohumeral muscular dystrophy 2. (PubMed id 20975055)1 de Greef J.C....Tawil R. (Neurology 2010)
    5. Genomic analysis of human chromosome 10q and 4q telomeres suggests a common origin. (PubMed id 11829491)1 van Geel M.... Hewitt J.E. (Genomics 2002)
    6. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    7. Analysis of allele-specific RNA transcription in FSHD by RNA-DNA FISH in single myonuclei. (PubMed id 19888305)9 Masny P.S....Winokur S.T. (Eur. J. Hum. Genet. 2010)
    8. Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level. (PubMed id 19809486)9 Klooster R....van der Maarel S. (Eur. J. Hum. Genet. 2009)
    9. Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1. (PubMed id 16341202)9 Gabellini D....Tupler R. (Nature 2006)
    10. Remodeling of the chromatin structure of the facioscapulohumeral muscular dystrophy (FSHD) locus and upregulation of FSHD-related gene 1 (FRG1) expression during human myogenic differentiation. (PubMed id 19607661)9 Bodega B....Ginelli E. (BMC Biol. 2009)

    (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: 448831 HGNC: 19136 Ensembl:ENSG00000205097 euGenes: HUgn448831 ECgene: FRG2
    H-InvDB: FRG2

    (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 FRG2 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 FRG2 gene:
    Search GeneIP for patents involving FRG2

    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, eBioscience, antibodies-online, 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 genOway)
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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