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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 2 and Facioscapulohumeral Muscular Dystrophy 1. An important paralog of this gene is FRG2B.

Additional gene information for FRG2 Gene

No data available for Entrez Gene Summary , CIViC 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

GeneHancer (GH) Regulatory Elements for FRG2 Gene

Promoters and enhancers for FRG2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04I190027 Promoter 0.5 EPDnew 550.8 +1.1 1074 0.1 FRG2 DUX4L9
GH04I190037 Promoter 0.8 Ensembl 0.4 -9.6 -9553 0.2 ZNF335 CTCF GLIS2 GLIS1 GC04M190038 RARRES2P4 FRG2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FRG2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FRG2 gene promoter:

Genomic Locations for FRG2 Gene

Genomic Locations for FRG2 Gene
chr4:190,024,351-190,028,348
(GRCh38/hg38)
Size:
3,998 bases
Orientation:
Minus strand
chr4:190,945,506-190,948,412
(GRCh37/hg19)

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

No Post-translational modifications

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

Gene Families for FRG2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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

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

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FRG2 Gene

Pathways & Interactions 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

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia LOC735441 33
  • 98.08 (n)
-- 34
  • 96 (a)
ManyToMany
-- 34
  • 96 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Gm6232 33
  • 70.04 (n)
AA415398 34
  • 35 (a)
OneToMany
cow
(Bos Taurus)
Mammalia LOC101904879 33
  • 61.63 (n)
-- 34
  • 42 (a)
OneToMany
dog
(Canis familiaris)
Mammalia LOC100855990 33
  • 59.92 (n)
-- 34
  • 45 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Frg2 33
  • 59.3 (n)
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 Variation AA Info Type
rs112322489 -- 190,028,038(-) T/TT upstream_transcript_variant
rs112907182 -- 190,025,754(-) C/G coding_sequence_variant, missense_variant
rs113647878 -- 190,028,399(-) C/T upstream_transcript_variant
rs113699988 -- 190,026,911(-) G/A intron_variant
rs143585119 -- 190,026,389(-) G/C coding_sequence_variant, missense_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

Additional Variant Information 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

(3) MalaCards diseases for FRG2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
facioscapulohumeral muscular dystrophy 2
  • fshd2
facioscapulohumeral muscular dystrophy 1
  • fmd
congenital myasthenic syndrome
  • familial limb-girdle myasthenia
- elite association - COSMIC cancer census association via MalaCards
Search FRG2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for 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 SM (Journal of medical genetics 2004) 2 3 4 22 58
  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 58
  3. Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2. (PMID: 25256356) Lemmers RJ … van der Maarel SM (Human molecular genetics 2015) 3 58
  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 58
  5. Clinical features of facioscapulohumeral muscular dystrophy 2. (PMID: 20975055) de Greef JC … Tawil R (Neurology 2010) 3 58

Products for FRG2 Gene

Sources for FRG2 Gene

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