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Aliases for FRG2 Gene

Aliases for FRG2 Gene

  • FSHD Region Gene 2 2 3 5
  • FSHD Region Gene 2 Protein 3 4
  • FRG2A 3 4

External Ids for FRG2 Gene

Previous GeneCards Identifiers for FRG2 Gene

  • GC10M135327
  • GC04U900480
  • GC04M191182
  • GC04M190945

Summaries for FRG2 Gene

GeneCards Summary for FRG2 Gene

FRG2 (FSHD Region Gene 2) is a Protein Coding gene. An important paralog of this gene is FRG2C.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FRG2 Gene

Genomics for FRG2 Gene

Regulatory Elements for FRG2 Gene

Enhancers for FRG2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around FRG2 on UCSC Golden Path with GeneCards custom track

Genomic Location for FRG2 Gene

190,024,351 bp from pter
190,028,348 bp from pter
3,998 bases
Minus strand

Genomic View for FRG2 Gene

Genes around FRG2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FRG2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FRG2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FRG2 Gene

Proteins for FRG2 Gene

  • Protein details for FRG2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein FRG2
    Protein Accession:
    Secondary Accessions:
    • B7ZMJ1
    • E7EN36

    Protein attributes for FRG2 Gene

    278 amino acids
    Molecular mass:
    30490 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for FRG2 Gene


neXtProt entry for FRG2 Gene

Proteomics data for FRG2 Gene at MOPED

Post-translational modifications for FRG2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FRG2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FRG2 Gene

Domains & Families for FRG2 Gene

Protein Domains for FRG2 Gene


Suggested Antigen Peptide Sequences for FRG2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the FRG2 family.
  • Belongs to the FRG2 family.
genes like me logo Genes that share domains with FRG2: view

No data available for Gene Families for FRG2 Gene

Function for FRG2 Gene

Phenotypes for FRG2 Gene

GenomeRNAi human phenotypes for FRG2:
genes like me logo Genes that share phenotypes with FRG2: view

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for FRG2 Gene

Localization for FRG2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FRG2 Gene

Subcellular locations from

Jensen Localization Image for FRG2 Gene COMPARTMENTS Subcellular localization image for FRG2 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1

No data available for Gene Ontology (GO) - Cellular Components for FRG2 Gene

Pathways & Interactions for FRG2 Gene

SuperPathways for FRG2 Gene

No Data Available

Interacting Proteins for FRG2 Gene

Gene Ontology (GO) - Biological Process for FRG2 Gene


No data available for Pathways by source and SIGNOR curated interactions for FRG2 Gene

Drugs & Compounds for FRG2 Gene

No Compound Related Data Available

Transcripts for FRG2 Gene

mRNA/cDNA for FRG2 Gene

(4) REFSEQ mRNAs :
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for FRG2 Gene

No ASD Table

Relevant External Links for FRG2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for FRG2 Gene

mRNA expression in normal human tissues for FRG2 Gene

mRNA differential expression in normal tissues according to GTEx for FRG2 Gene

This gene is overexpressed in Brain - Cerebellum (x20.2) and Brain - Cerebellar Hemisphere (x18.9).

SOURCE GeneReport for Unigene cluster for FRG2 Gene Hs.626907

mRNA Expression by UniProt/SwissProt for FRG2 Gene

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.
genes like me logo Genes that share expression patterns with FRG2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for FRG2 Gene

Orthologs for FRG2 Gene

This gene was present in the common ancestor of mammals.

Orthologs for FRG2 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia LOC101904879 35
  • 61.63 (n)
  • 42.45 (a)
-- 36
  • 42 (a)
(Canis familiaris)
Mammalia LOC100855990 35
  • 59.92 (n)
  • 46.28 (a)
-- 36
  • 45 (a)
(Mus musculus)
Mammalia Gm9326 35
  • 70.04 (n)
  • 54.43 (a)
AA415398 36
  • 35 (a)
(Pan troglodytes)
Mammalia LOC735441 35
  • 98.08 (n)
  • 96.76 (a)
-- 36
  • 96 (a)
-- 36
  • 96 (a)
(Rattus norvegicus)
Mammalia Frg2 35
  • 59.3 (n)
  • 43.02 (a)
Species with no ortholog for FRG2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for FRG2 Gene

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

Paralogs for FRG2 Gene

Paralogs for FRG2 Gene

(2) SIMAP similar genes for FRG2 Gene using alignment to 3 proteins: Pseudogenes for FRG2 Gene

genes like me logo Genes that share paralogs with FRG2: view

Variants for FRG2 Gene

Sequence variations from dbSNP and Humsavar for FRG2 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs2037950 -- 190,026,422(-) TTTTT(A/C/G/T)TTTTC reference, missense
rs2975572 -- 190,029,315(+) CTGTA(A/G)TCCCA upstream-variant-2KB
rs2975573 -- 190,029,472(+) AGATT(G/T)TAAAT upstream-variant-2KB
rs3020515 -- 190,024,137(+) AGCAG(G/T)GTCAA downstream-variant-500B
rs4863309 -- 190,026,296(+) AGCCT(C/T)GTATA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FRG2 Gene

Variant ID Type Subtype PubMed ID
dgv5873n71 CNV Loss 21882294
nsv880818 CNV Gain 21882294
dgv5875n71 CNV Gain 21882294
nsv10641 CNV Loss 18304495
nsv880553 CNV Gain 21882294
nsv471487 CNV Duplication 19718026
nsv513204 CNV Loss 21212237
esv23426 CNV Gain+Loss 19812545
nsv482089 CNV Gain 20164927

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Variation tolerance and Relevant External Links for FRG2 Gene

Disorders for FRG2 Gene

Relevant External Links for FRG2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:

No disorders were found for FRG2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FRG2 Gene

Publications for FRG2 Gene

  1. FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients. (PMID: 15520407) Rijkers T. … van der Maarel S.M. (J. Med. Genet. 2004) 2 3 4 23 67
  2. Inappropriate gene activation in FSHD: a repressor complex binds a chromosomal repeat deleted in dystrophic muscle. (PMID: 12176321) Gabellini D. … Tupler R. (Cell 2002) 2 3
  3. Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2. (PMID: 25256356) Lemmers R.J. … van der Maarel S.M. (Hum. Mol. Genet. 2015) 3
  4. Expression profiling of FSHD-1 and FSHD-2 cells during myogenic differentiation evidences common and distinctive gene dysregulation patterns. (PMID: 21695143) Cheli S. … Meneveri R. (PLoS ONE 2011) 3
  5. Clinical features of facioscapulohumeral muscular dystrophy 2. (PMID: 20975055) de Greef J.C. … Tawil R. (Neurology 2010) 3

Products for FRG2 Gene

Sources for FRG2 Gene