Aliases for FRG2C Gene

Aliases for FRG2C Gene

  • FSHD Region Gene 2 Family Member C 2 3 5
  • FSHD Region Gene 2 Protein Family Member C 3 4
  • Protein FRG2-Like-2 3 4
  • HSA3-FRG2 3 4
  • FSHD Region Gene 2 Family, Member C-Like 3
  • FSHD Region Gene 2 Family, Member C 2
  • FRG2C 5

External Ids for FRG2C Gene

Previous GeneCards Identifiers for FRG2C Gene

  • GC03P075799
  • GC00M8M0087
  • GC03P075714
  • GC03P075715
  • GC03P075716
  • GC03P075724
  • GC03P075728
  • GC03P075664

Summaries for FRG2C Gene

GeneCards Summary for FRG2C Gene

FRG2C (FSHD Region Gene 2 Family Member C) is a Protein Coding gene. Diseases associated with FRG2C include Spondyloarthropathy 1. An important paralog of this gene is FRG2B.

Additional gene information for FRG2C Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FRG2C Gene

Genomics for FRG2C Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FRG2C 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
GH03J075640 Promoter/Enhancer 1.5 EPDnew ENCODE CraniofacialAtlas 600.7 -4.6 -4576 3 CREB1 CTCF PRDM10 ZNF629 SIX5 PRDM1 ZNF143 POLR2A NR2C1 RAD21 FRG2C ZNF717 lnc-FRG2C-10 lnc-ZNF717-2 RPL23AP49 lnc-ZNF717-1
GH03J075645 Enhancer 0.4 Ensembl 600.7 -0.9 -860 1 ZFX NFXL1 SPI1 TCF12 FRG2C lnc-ZNF717-2 lnc-FRG2C-10 RPL23AP49 lnc-ZNF717-1
GH03J075664 Promoter 0.3 EPDnew 600.4 +17.6 17550 0.1 FRG2C DUX4L26 lnc-FRG2C-8 RPL23AP49 lnc-ZNF717-1 lnc-FRG2C-9 ZNF717
GH03J075668 Promoter/Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas 0.4 +24.2 24215 5.6 POLR2A CTCF ZNF37A MGA ZFX ZBTB20 SP2 EGR1 ZNF444 GABPA LINC00960 RPL23AP49 lnc-ZNF717-1 HNRNPA3P6 ZNF717 DUX4L26 lnc-FRG2C-8 FRG2C
GH03J075658 Promoter/Enhancer 1.1 Ensembl ENCODE 0.4 +11.8 11840 1.6 GATAD2A CTCF ZNF692 ZIC2 RBFOX2 PATZ1 ZNF501 KLF9 ZFX ZBTB20 RARRES2P1 lnc-FRG2C-9 HNRNPA3P6 ZNF717 DUX4L26 FRG2C RPL23AP49 lnc-FRG2C-8 lnc-ZNF717-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FRG2C on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FRG2C

Genomic Locations for FRG2C Gene

Genomic Locations for FRG2C Gene
chr3:75,646,761-75,667,220
(GRCh38/hg38)
Size:
20,460 bases
Orientation:
Plus strand
chr3:75,713,481-75,716,371
(GRCh37/hg19)
Size:
2,891 bases
Orientation:
Plus strand

Genomic View for FRG2C Gene

Genes around FRG2C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FRG2C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FRG2C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FRG2C Gene

Proteins for FRG2C Gene

  • Protein details for FRG2C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A6NGY1-FRG2C_HUMAN
    Recommended name:
    Protein FRG2-like-2
    Protein Accession:
    A6NGY1

    Protein attributes for FRG2C Gene

    Size:
    282 amino acids
    Molecular mass:
    30798 Da
    Quaternary structure:
    No Data Available

neXtProt entry for FRG2C Gene

Post-translational modifications for FRG2C Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FRG2C Gene

No data available for DME Specific Peptides for FRG2C Gene

Domains & Families for FRG2C Gene

Gene Families for FRG2C Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FRG2C Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FRG2C Gene

GenScript: Design optimal peptide antigens:
  • HSA3-FRG2 (FRG2C_HUMAN)

Graphical View of Domain Structure for InterPro Entry

A6NGY1

UniProtKB/Swiss-Prot:

FRG2C_HUMAN :
  • Belongs to the FRG2 family.
Family:
  • Belongs to the FRG2 family.
genes like me logo Genes that share domains with FRG2C: view

Function for FRG2C Gene

Phenotypes From GWAS Catalog for FRG2C Gene

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FRG2C

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for FRG2C Gene

Localization for FRG2C Gene

Subcellular locations from UniProtKB/Swiss-Prot for FRG2C 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 FRG2C gene
Compartment Confidence
nucleus 4
cytosol 1
extracellular 0

Gene Ontology (GO) - Cellular Components for FRG2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with FRG2C: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FRG2C Gene

Pathways & Interactions for FRG2C Gene

PathCards logo

SuperPathways for FRG2C Gene

No Data Available

Interacting Proteins for FRG2C Gene

Gene Ontology (GO) - Biological Process for FRG2C Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FRG2C Gene

Drugs & Compounds for FRG2C Gene

No Compound Related Data Available

Transcripts for FRG2C Gene

mRNA/cDNA for FRG2C Gene

1 REFSEQ mRNAs :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FRG2C

Alternative Splicing Database (ASD) splice patterns (SP) for FRG2C Gene

No ASD Table

Relevant External Links for FRG2C Gene

GeneLoc Exon Structure for
FRG2C

Expression for FRG2C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FRG2C Gene

mRNA differential expression in normal tissues according to GTEx for FRG2C Gene

This gene is overexpressed in Testis (x19.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FRG2C Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FRG2C

SOURCE GeneReport for Unigene cluster for FRG2C Gene:

Hs.274541
genes like me logo Genes that share expression patterns with FRG2C: 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 tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for FRG2C Gene

Orthologs for FRG2C Gene

This gene was present in the common ancestor of mammals.

Orthologs for FRG2C Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia -- 31
  • 99 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia -- 31
  • 46 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia -- 31
  • 43 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia AA415398 31
  • 33 (a)
OneToMany
Species where no ortholog for FRG2C was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (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 FRG2C Gene

ENSEMBL:
Gene Tree for FRG2C (if available)
TreeFam:
Gene Tree for FRG2C (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FRG2C: view image

Paralogs for FRG2C Gene

Paralogs for FRG2C Gene

(2) SIMAP similar genes for FRG2C Gene using alignment to 2 proteins:

  • FRG2C_HUMAN
  • C9JUX3_HUMAN
genes like me logo Genes that share paralogs with FRG2C: view

Variants for FRG2C Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FRG2C Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
rs13073018 - p.Cys12Arg
rs13096122 - p.Leu210Met

Additional dbSNP identifiers (rs#s) for FRG2C Gene

Structural Variations from Database of Genomic Variants (DGV) for FRG2C Gene

Variant ID Type Subtype PubMed ID
dgv181e55 CNV loss 17911159
dgv4773n100 CNV gain 25217958
dgv4789n100 CNV gain 25217958
dgv4790n100 CNV gain 25217958
dgv8385n54 CNV gain 21841781
esv2422315 CNV deletion 17116639
esv26581 CNV gain+loss 19812545
esv2759157 CNV gain+loss 17122850
esv2763755 CNV gain+loss 21179565
esv3893725 CNV gain 25118596
nsv1004234 CNV loss 25217958
nsv1012185 CNV loss 25217958
nsv1015074 CNV gain 25217958
nsv10283 CNV gain+loss 18304495
nsv1076545 CNV duplication 25765185
nsv428418 CNV loss 18775914
nsv529016 CNV gain 19592680
nsv819834 CNV insertion 19587683
nsv821408 CNV duplication 20802225
nsv822137 CNV gain 20364138
nsv822138 CNV gain 20364138
nsv834737 CNV gain+loss 17160897
nsv954890 CNV duplication 24416366
nsv967026 CNV duplication 23825009
nsv997946 CNV loss 25217958

Additional Variant Information for FRG2C Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FRG2C

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for FRG2C Gene

Disorders for FRG2C Gene

MalaCards: The human disease database

(1) MalaCards diseases for FRG2C Gene - From: LncRNADisease and DISEASES

Disorder Aliases PubMed IDs
spondyloarthropathy 1
  • as
- elite association - COSMIC cancer census association via MalaCards
Search FRG2C in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with FRG2C: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FRG2C Gene

Publications for FRG2C Gene

  1. The DNA sequence, annotation and analysis of human chromosome 3. (PMID: 16641997) Muzny DM … Gibbs RA (Nature 2006) 3 4
  2. 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) 3 4
  3. Active genes in junk DNA? Characterization of DUX genes embedded within 3.3 kb repeated elements. (PMID: 11245978) Beckers M … Belayew A (Gene 2001) 3

Products for FRG2C Gene

Sources for FRG2C Gene