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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
  • Protein FRG2 3

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. Diseases associated with FRG2 include Facioscapulohumeral Muscular Dystrophy 1. An important paralog of this gene is FRG2B.

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


Genomic Location for FRG2 Gene

Chromosome:
4
Start:
190,024,351 bp from pter
End:
190,028,348 bp from pter
Size:
3,998 bases
Orientation:
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:
    Q64ET8-FRG2_HUMAN
    Recommended name:
    Protein FRG2
    Protein Accession:
    Q64ET8
    Secondary Accessions:
    • B7ZMJ1
    • E7EN36

    Protein attributes for FRG2 Gene

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

    Alternative splice isoforms for FRG2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FRG2 Gene

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

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FRG2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q64ET8

UniProtKB/Swiss-Prot:

FRG2_HUMAN :
  • Belongs to the FRG2 family.
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

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

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

Gene Ontology (GO) - Cellular Components for FRG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with FRG2: view

Pathways & Interactions for FRG2 Gene

SuperPathways for FRG2 Gene

No Data Available

Interacting Proteins for FRG2 Gene

Selected Interacting proteins: Q64ET8-FRG2_HUMAN for FRG2 Gene via IID

Symbol External ID(s) Details
PPIL1
SARNP

Gene Ontology (GO) - Biological Process for FRG2 Gene

None

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

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

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for FRG2 Gene

GeneLoc Exon Structure for
FRG2
ECgene alternative splicing isoforms for
FRG2

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).

NURSA nuclear receptor signaling pathways regulating expression of FRG2 Gene:

FRG2

SOURCE GeneReport for Unigene cluster for FRG2 Gene:

Hs.626907

mRNA Expression by UniProt/SwissProt for FRG2 Gene:

Q64ET8-FRG2_HUMAN
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
cow
(Bos Taurus)
Mammalia LOC101904879 34
  • 61.63 (n)
  • 42.45 (a)
-- 35
  • 42 (a)
OneToMany
dog
(Canis familiaris)
Mammalia LOC100855990 34
  • 59.92 (n)
  • 46.28 (a)
-- 35
  • 45 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Gm9326 34
  • 70.04 (n)
  • 54.43 (a)
AA415398 35
  • 35 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia LOC735441 34
  • 98.08 (n)
  • 96.76 (a)
-- 35
  • 96 (a)
ManyToMany
-- 35
  • 96 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Frg2 34
  • 59.3 (n)
  • 43.02 (a)
Species where no ortholog for FRG2 was found in the sources mined by GeneCards:
  • 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

ENSEMBL:
Gene Tree for FRG2 (if available)
TreeFam:
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.org 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
dgv205n111 CNV duplication 26073780
dgv5507n100 CNV gain 25217958
dgv5508n100 CNV gain 25217958
dgv5509n100 CNV gain 25217958
dgv9457n54 CNV loss 21841781
esv23426 CNV gain+loss 19812545
esv2763429 CNV gain 21179565
esv3569891 CNV loss 25503493
esv3894102 CNV gain 25118596
nsv1017854 CNV loss 25217958
nsv1030311 CNV gain+loss 25217958
nsv1035126 CNV loss 25217958
nsv10641 CNV loss 18304495
nsv1074259 CNV deletion 25765185
nsv1145045 CNV deletion 24896259
nsv471487 CNV gain 19718026
nsv482089 CNV gain 20164927
nsv513204 CNV loss 21212237
nsv950611 CNV duplication 24416366
nsv964128 CNV duplication 23825009

Relevant External Links for FRG2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FRG2

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

Disorders for FRG2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for FRG2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
facioscapulohumeral muscular dystrophy 1
  • facioscapulohumeral muscular dystrophy
- elite association - COSMIC cancer census association via MalaCards
Search FRG2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for FRG2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FRG2
genes like me logo Genes that share disorders with FRG2: view

No data available for 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 22 65
  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 65
  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 65
  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 65
  5. Clinical features of facioscapulohumeral muscular dystrophy 2. (PMID: 20975055) de Greef J.C. … Tawil R. (Neurology 2010) 3 65

Products for FRG2 Gene

Sources for FRG2 Gene

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