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

FRG2C Gene

protein-coding   GIFtS: 31
GCID: GC03P075728

FSHD Region Gene 2 Family, Member C

  Search for FRG2C
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
FSHD Region Gene 2 Family, Member C1 2
HSA3-FRG22 3
FSHD Region Gene 2 Protein Family Member C2 3
Protein FRG2-Like-22

External Ids:    HGNC: 336261   Entrez Gene: 1002888012   Ensembl: ENSG000001729697   UniProtKB: A6NGY13   

Export aliases for FRG2C gene to outside databases

Previous GC identifers: GC03P075799 GC00M8M0087 GC03P075714 GC03P075715 GC03P075716 GC03P075724


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

GeneCards Summary for FRG2C Gene: 
FRG2C (FSHD region gene 2 family, member C) is a protein-coding gene. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.2  NT_022459.15  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for FRG2C
         Other transcription factors

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   Search SABiosciences Chromatin IP Primers for FRG2C

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FRG2C


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

Entrez Gene cytogenetic band: 3p12.3   Ensembl cytogenetic band:  3p12.3   HGNC cytogenetic band: 3p12.3

FRG2C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FRG2C gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P075728:  view genomic region     (about GC identifiers)

Start:
75,713,481 bp from pter      End:
75,716,371 bp from pter
Size:
2,891 bases      Orientation:
plus strand

0 alternative location:

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: FRG2C_HUMAN, A6NGY1 (See protein sequence)
Recommended Name: Protein FRG2-like-2  
Size: 282 amino acids; 30798 Da
Subcellular location: Nucleus (By similarity)

Explore the universe of human proteins at neXtProt for FRG2C: NX_A6NGY1

Explore proteomics data for FRG2C at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_A6NGY1

  • FRG2C Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FRG2C Protein Expression
    REFSEQ proteins: NP_001118231.1  
    ENSEMBL proteins: 
     ENSP00000312299   ENSP00000419432  

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    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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

    FRG2C for ontologies           About GeneDecksing



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

    Graphical View of Domain Structure for InterPro Entry A6NGY1

    ProtoNet protein and cluster: A6NGY1

    UniProtKB/Swiss-Prot: FRG2C_HUMAN, A6NGY1
    Similarity: Belongs to the FRG2 family


    FRG2C for domains           About GeneDecksing


    (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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FRG2C

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 FRG2C

    Search CenterWatch for drugs/clinical trials and news about FRG2C

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    About This Section

    REFSEQ mRNAs for FRG2C gene: 
    NM_001124759.1  

    Unigene Cluster for FRG2C:

    FSHD region gene 2 family, member C
    Hs.274541  [show with all ESTs]
    Unigene Representative Sequence: AK000525
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000308062(uc003dpt.4) ENST00000464571
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    Additional mRNA sequence: 

    AK000525.1 NR_037925.1 

    1 DOTS entry:

    DT.97806612 

    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™, 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

    FRG2C expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    FRG2C Expression
    About this image


    See FRG2C Protein Expression from SPIRE MOPED and PaxDB
    SOURCE GeneReport for Unigene cluster: Hs.274541
        SABiosciences Custom PCR Arrays for FRG2C
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FRG2C

    (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
      --

    ENSEMBL Gene Tree for FRG2C (if available)
    TreeFam Gene Tree for FRG2C (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FRG2C gene
    LOC6519592  FRG2B2  ENSG000001488282  FRG22  
    2 SIMAP similar genes for FRG2C using alignment to 2 protein entries:     FRG2C_HUMAN (see all proteins):
    FRG2    FRG2B

    FRG2C for paralogs           About GeneDecksing


    5/6 Pseudogenes.org Pseudogenes for FRG2C (see all 6)
    PGOHUM00000248857 PGOHUM00000248859 PGOHUM00000248861 PGOHUM00000248863 PGOHUM00000248867


    (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) 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

    10/285 SNPs in FRG2C are shown (see all 285)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0601564
    ----see VAR_0601562 C R mis40--------
    VAR_0601574
    ----see VAR_0601572 L M mis40--------
    rs1508553531,2
    C--75711550(+) TAAGGC/TGATCC 1 -- us2k10--------
    rs3697864881,2
    C--75711602(+) GCACC-/ACGGTGCC 2 -- us2k1 cds10--------
    rs2011924711,2
    C--75711608(+) GTGCCC/TGGCCA 1 -- us2k10--------
    rs2020725191,2
    C--75711609(+) TGCCTA/GGCCAG 1 -- us2k10--------
    rs2001732441,2
    C--75711610(+) GCCTGA/GCCAGA 1 -- us2k10--------
    rs1146239861,2
    C--75711615(+) GCCAGA/GCCTGA 1 -- us2k10--------
    rs1414551381,2
    C--75711638(+) AATTTC/TTCTTT 1 -- us2k10--------
    rs1164016461,2
    C--75711670(+) CAGTTA/GCAAGG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for FRG2C (75713481 - 75716371 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/23 variations for FRG2C (see all 23):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2422315CNV Deletion17116639
    nsv821408CNV Duplication20802225
    nsv819834CNV Insertion19587683
    dgv181e55CNV Loss17911159
    nsv428418CNV Loss18775914
    nsv876985CNV Gain21882294
    nsv822138CNV Gain20364138
    nsv876987CNV Gain21882294
    nsv876986CNV Gain21882294
    nsv529016CNV Gain19592680

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

    (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 FRG2C gene integrated from 9 sources:
    (articles sorted by number of sources associating them with FRG2C)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)1, 2 Muzny D.M....Gibbs R.A. (2006)
    2. FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients. (PubMed id 15520407)1, 2 Rijkers T....van der Maarel S.M. (2004)
    3. Active genes in junk DNA? Characterization of DUX genes embedded within 3.3 kb repeated elements. (PubMed id 11245978)1 Beckers M.-C.... Belayew A. (2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 100288801 HGNC: 33626 Ensembl:ENSG00000172969 euGenes: HUgn100288801 ECgene: FRG2C
    H-InvDB: FRG2C

    (According to HUGE)
    About This Section
      --

    (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 FRG2C Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for FRG2C gene:
    Search GeneIP for patents involving FRG2C

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

     
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    transforming growth factor, beta 1
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