FRG2 Gene
protein-coding GIFtS: 40
GCID: GC04M190945
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FSHD region gene 2
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Aliases
for FRG2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| FSHD Region Gene 21 2 | | FRG2A1 2 3 | | FSHD Region Gene 2 Protein2 3 | | Protein FRG22 |
Export aliases for FRG2 gene to outside databasesPrevious GC identifers: GC10M135327 GC04U900480 GC04M191182 |
Summaries
for FRG2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
-- |
Genomic Views
for FRG2 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_000004.11 NC_018915.1 NT_016354.19
Regulatory elements:
 SABiosciences 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
Search SABiosciences Chromatin IP Primers for FRG2
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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: 4q35.2FRG2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 4 GeneLoc Exon Structure GeneLoc location for GC04M190945: view genomic region
(about GC identifiers)
Start:
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190,945,506 bp from pter |
End:
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190,948,412 bp from pter |
Size:
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2,907 bases |
Orientation:
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minus strand |
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Proteins
for FRG2 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: FRG2_HUMAN, Q64ET8 (See
protein sequence)Recommended Name: Protein FRG2 Size: 278 amino acids; 30490 Da
Subcellular location: NucleusExplore the universe of human proteins at neXtProt for FRG2: NX_Q64ET8
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q64ET8
FRG2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_001005217.1
ENSEMBL proteins: ENSP00000424015 ENSP00000368039
Human Recombinant Protein Products for FRG2:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005634 | nucleus |
IEA | -- |
FRG2 for ontologies About GeneDecksing
FRG2 Antibody Products:
Assay Products for FRG2: |
Protein
Domains /
Families
for FRG2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
FRG2 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q64ET8ProtoNet protein and cluster: Q64ET8 UniProtKB/Swiss-Prot: FRG2_HUMAN, Q64ET8Similarity: Belongs to the FRG2 family |
Function
for FRG2 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
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,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Animal Models:
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FRG2
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FRG2
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
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Synthesis Service for FRG2 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FRG2 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FRG2 |
|
Pathways & Interactions
for FRG2 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:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FRG2
|
Drugs & Compounds
for FRG2 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 Tocris compounds for FRG2
Search CenterWatch for drugs/clinical trials and news about FRG2
|
Transcripts
for FRG2 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,
Sirion Biotech,
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 FRG2 gene: NM_001005217.1 Unigene Cluster for FRG2: FSHD region gene 2 Hs.626907 Unigene Representative Sequence: AY7145452 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000504750 ENST00000378763(uc003izv.3 uc011clh.2)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FRG2
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FRG2
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: FRG2 (NM_001080998) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for FRG2 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FRG2 |
Additional cDNA sequence: AY714545.1 BC144572.1 1 DOTS entry: DT.40273603
GeneLoc Exon Structure
|
Expression
for FRG2 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
| FRG2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTTCATTTCA
About this image
See FRG2 Protein Expression from SPIRE MOPED and PaxDB
SOURCE GeneReport for Unigene cluster: Hs.626907
UniProtKB/Swiss-Prot: FRG2_HUMAN, Q64ET8Tissue specificity: Expression is undetectable in all tissues tested except for differentiating myoblasts of FSHDpatients, which display low, yet distinct levels of expression, partly from FRG2, but predominantly originating fromits homolog on chromosome 10
SABiosciences Custom PCR Arrays for FRG2
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FRG2
Browse OriGene validated miRNA SYBR primer pairs
| | | Search SABiosciences RT2 qPCR
Primer Assays in human, mouse, rat FRG2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FRG2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FRG2 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FRG2 |
Orthologs
for FRG2 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
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ENSEMBL Gene Tree for FRG2 (if available)
TreeFam Gene Tree for FRG2 (if available) |
Paralogs
for FRG2 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for FRG2 gene
- LOC100288255 FRG2B1 2 LOC2852992 ENSG000001488282 FRG2C2
2 SIMAP similar genes for FRG2 using alignment to 3 protein entries: FRG2_HUMAN (see all proteins):FRG2B FRG2C
FRG2 for paralogs About GeneDecksing
2 Pseudogenes.org Pseudogenes for FRG2
PGOHUM00000239034 PGOHUM00000238321
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Genomic Variants
for FRG2 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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 4 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for FRG2 (190945506 - 190948412 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 5 variations for FRG2
5 CNVs: 68912 92759 80735 92762 32686 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FRG2 |
|
Disorders
/ Diseases
for FRG2 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
|
FRG2 for disorders About GeneDecksing
OMIM gene information: 609032
OMIM disorders: --
2  diseases for FRG2: About MalaCardsfacioscapulohumeral muscular dystrophy muscular dystrophy
1 disease from the University of Copenhagen DISEASES database for FRG2:Facioscapulohumeral muscular dystrophy Export disorders for FRG2 gene to outside databases
|
Publications
for FRG2 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 FRG2 gene, integrated from 9 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 |
- 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. (2004)
- 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. (2002)
- Expression profiling of FSHD-1 and FSHD-2 cells durin g myogenic differentiation evidences common and distinctive gene dysregulation patterns. (PubMed id 21695143)1 Cheli S....Meneveri R. (2011)
- Clinical features of facioscapulohumeral muscular dys trophy 2. (PubMed id 20975055)1 de Greef J.C....Tawil R. (2010)
- Genomic analysis of human chromosome 10q and 4q telomeres suggests a common origin. (PubMed id 11829491)1 van Geel M.... Hewitt J.E. (2002)
- 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. (2002)
- 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. (2010)
- Comprehensive expression analysis of FSHD candidate g enes at the mRNA and protein level. (PubMed id 19809486)9 Klooster R....van der Maarel S. (2009)
- Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1. (PubMed id 16341202)9 Gabellini D....Tupler R. (2006)
- Remodeling of the chromatin structure of the faciosca pulohumeral muscular dystrophy (FSHD) locus and upregulation of FSHD-related ge ne 1 (FRG1) expression during human myogenic differentiation. (PubMed id 19607661)9 Bodega B....Ginelli E. (2009)
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External Searches for FRG2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
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Genome Databases showing FRG2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing FRG2 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing FRG2 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
|
| Name | Description |
| PharmGKB entry for FRG2 | Pharmacogenomics, SNPs, Pathways |
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| | |
About This Section
| 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
|
Products
for FRG2 gene(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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section
|
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 | |
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| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for FRG2 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FRG2 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FRG2 | | | OriGene Protein Over-expression Lysate for FRG2 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for FRG2 | | Browse 3'-UTR reporter clones for miRNA target validation | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FRG2 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FRG2 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for FRG2 | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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 | | | FRG2 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FRG2 |
|  |  |  |  | | | | ThermoFisher Antibodies for FRG2 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FRG2 |
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