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FRG2C Gene

protein-coding   GIFtS: 30
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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000003.11  NC_018914.2  NT_022517.19  
Regulatory elements:
   Search for regulatory transcription factor binding sites for FRG2C
         Other transcription factors

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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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: FRG2C_HUMAN, A6NGY1 (See protein sequence)
Recommended Name: Protein FRG2-like-2  
Size: 282 amino acids; 30798 Da

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

Explore proteomics data for FRG2C at MOPED


See FRG2C Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001118231.1  
ENSEMBL proteins: 
 ENSP00000312299   ENSP00000419432  

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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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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


Find genes that share domains with FRG2C           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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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
FRG2C_HUMAN, A6NGY1: Nucleus (By similarity)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
nucleus3
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 FRG2C           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 FRG2C
Interactions:

    Search GeneGlobe Interaction Network for FRG2C

(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 Tocris compounds for 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,
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 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™, 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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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

FRG2C Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

FRG2C Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.274541
    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)
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  --

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)
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Paralogs for FRG2C gene
LOC6519592  FRG2B2  FRG22  
2 SIMAP similar genes for FRG2C using alignment to 2 protein entries:     FRG2C_HUMAN (see all proteins):
FRG2    FRG2B

Find genes that share paralogs with FRG2C           About GenesLikeMe


Selected 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), 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 FRG2C (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
----------
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--------
rs1159220171,2
C--75711685(+) TTTTAA/TCTAAA 1 -- us2k10--------
rs1429554051,2
C--75711744(+) AAGGA-/CAAAT 
        
CAAAA
1 -- us2k10--------

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

Structural Variations
     Database of Genomic Variants (DGV) Selected 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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  --

(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 FRG2C gene integrated from 10 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. (Nature 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. (J. Med. Genet. 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. (Gene 2001)

(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: 100288801 HGNC: 33626 Ensembl:ENSG00000172969 euGenes: HUgn100288801 ECgene: FRG2C
H-InvDB: FRG2C

(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 FRG2C 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 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, 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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