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Aliases for FRG2B Gene

Aliases for FRG2B Gene

  • FSHD Region Gene 2 Family Member B 2 3 5
  • FSHD Region Gene 2 Protein Family Member B 3 4
  • HSA10-FRG2 3 4
  • FSHD Region Gene 2 Family, Member B 2
  • Protein FRG2-Like-1 3

External Ids for FRG2B Gene

Previous GeneCards Identifiers for FRG2B Gene

  • GC10M135288
  • GC10M135437
  • GC10M128980

Summaries for FRG2B Gene

GeneCards Summary for FRG2B Gene

FRG2B (FSHD Region Gene 2 Family Member B) is a Protein Coding gene. An important paralog of this gene is FRG2.

Additional gene information for FRG2B 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 FRG2B Gene

Genomics for FRG2B Gene

GeneHancer (GH) Regulatory Elements for FRG2B Gene

Promoters and enhancers for FRG2B 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
GH10I133626 Promoter 0.5 EPDnew 550.8 +1.1 1074 0.1 FRG2B OR6L1P
GH10I133637 Promoter 0.9 Ensembl 0.4 -9.8 -9815 0.6 ZBTB10 CTCF ZBTB11 ZIC2 ZFP69B ZNF335 GLIS2 PATZ1 GLIS1 GC10M133638 RARRES2P2 FRG2B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FRG2B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FRG2B gene promoter:

Genomic Locations for FRG2B Gene

Genomic Locations for FRG2B Gene
chr10:133,623,895-133,627,886
(GRCh38/hg38)
Size:
3,992 bases
Orientation:
Minus strand
chr10:135,437,399-135,440,299
(GRCh37/hg19)

Genomic View for FRG2B Gene

Genes around FRG2B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FRG2B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FRG2B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FRG2B Gene

Proteins for FRG2B Gene

  • Protein details for FRG2B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96QU4-FRG2B_HUMAN
    Recommended name:
    Protein FRG2-like-1
    Protein Accession:
    Q96QU4
    Secondary Accessions:
    • Q5VSQ1

    Protein attributes for FRG2B Gene

    Size:
    278 amino acids
    Molecular mass:
    30564 Da
    Quaternary structure:
    No Data Available

neXtProt entry for FRG2B Gene

Post-translational modifications for FRG2B Gene

No Post-translational modifications

Other Protein References for FRG2B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FRG2B Gene

Domains & Families for FRG2B Gene

Gene Families for FRG2B Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FRG2B Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FRG2B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96QU4

UniProtKB/Swiss-Prot:

FRG2B_HUMAN :
  • Belongs to the FRG2 family.
Family:
  • Belongs to the FRG2 family.
genes like me logo Genes that share domains with FRG2B: view

Function for FRG2B Gene

genes like me logo Genes that share phenotypes with FRG2B: 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 FRG2B Gene

Localization for FRG2B Gene

Subcellular locations from UniProtKB/Swiss-Prot for FRG2B 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 FRG2B gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1

Gene Ontology (GO) - Cellular Components for FRG2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with FRG2B: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FRG2B Gene

Pathways & Interactions for FRG2B Gene

SuperPathways for FRG2B Gene

No Data Available

Interacting Proteins for FRG2B Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000401310%0d%0a9606.ENSP00000352272%0d%0a
Selected Interacting proteins: ENSP00000401310 for FRG2B Gene via STRING

Symbol External ID(s) Details
MYOZ1

Gene Ontology (GO) - Biological Process for FRG2B Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FRG2B Gene

Drugs & Compounds for FRG2B Gene

No Compound Related Data Available

Transcripts for FRG2B Gene

mRNA/cDNA for FRG2B Gene

(1) REFSEQ mRNAs :
(1) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for FRG2B Gene

No ASD Table

Relevant External Links for FRG2B Gene

GeneLoc Exon Structure for
FRG2B
ECgene alternative splicing isoforms for
FRG2B

Expression for FRG2B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FRG2B Gene

mRNA differential expression in normal tissues according to GTEx for FRG2B Gene

This gene is overexpressed in Brain - Cerebellum (x10.7), Brain - Cerebellar Hemisphere (x8.7), Brain - Cortex (x7.5), and Brain - Frontal Cortex (BA9) (x6.2).

NURSA nuclear receptor signaling pathways regulating expression of FRG2B Gene:

FRG2B

SOURCE GeneReport for Unigene cluster for FRG2B Gene:

Hs.690471
genes like me logo Genes that share expression patterns with FRG2B: 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 , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for FRG2B Gene

Orthologs for FRG2B Gene

This gene was present in the common ancestor of mammals.

Orthologs for FRG2B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LOC735441 33
  • 98.44 (n)
-- 34
  • 96 (a)
ManyToMany
-- 34
  • 96 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Gm6234 33
  • 70.46 (n)
AA415398 34
  • 35 (a)
OneToMany
Frg2f9 16
dog
(Canis familiaris)
Mammalia LOC100855990 33
  • 63.9 (n)
-- 34
  • 46 (a)
OneToMany
cow
(Bos Taurus)
Mammalia LOC101904879 33
  • 62.3 (n)
-- 34
  • 42 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Frg2 33
  • 58.68 (n)
Species where no ortholog for FRG2B 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 FRG2B Gene

ENSEMBL:
Gene Tree for FRG2B (if available)
TreeFam:
Gene Tree for FRG2B (if available)

Paralogs for FRG2B Gene

Paralogs for FRG2B Gene

(2) SIMAP similar genes for FRG2B Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with FRG2B: view

Variants for FRG2B Gene

Sequence variations from dbSNP and Humsavar for FRG2B Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs75987380 benign, not specified 133,626,710(-) G/A/C coding_sequence_variant, missense_variant, synonymous_variant
rs79777505 benign, not specified 133,626,712(-) G/A coding_sequence_variant, missense_variant
rs1002172602 -- 133,627,580(-) C/G upstream_transcript_variant
rs1003124946 -- 133,625,661(-) C/G intron_variant
rs1003178684 -- 133,625,149(-) C/T coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for FRG2B Gene

Variant ID Type Subtype PubMed ID
dgv1000n100 CNV gain 25217958
dgv1007n100 CNV gain 25217958
dgv1008n100 CNV gain+loss 25217958
dgv1009n100 CNV gain 25217958
dgv1497n54 CNV loss 21841781
dgv4n31 CNV gain 19718026
esv2760130 CNV gain+loss 21179565
esv28562 CNV gain+loss 19812545
nsv1052904 CNV gain 25217958
nsv428243 CNV gain 18775914
nsv442214 CNV gain 18776908
nsv552726 CNV gain 21841781
nsv8752 CNV gain+loss 18304495
nsv948234 CNV duplication 23825009

Variation tolerance for FRG2B Gene

Residual Variation Intolerance Score: 98.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.24; 70.07% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FRG2B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FRG2B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FRG2B Gene

Disorders for FRG2B Gene

Additional Disease Information for FRG2B

No disorders were found for FRG2B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FRG2B Gene

Publications for FRG2B 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 58
  2. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P … Rogers J (Nature 2004) 3 4 58
  3. Genomic analysis of human chromosome 10q and 4q telomeres suggests a common origin. (PMID: 11829491) van Geel M … Hewitt JE (Genomics 2002) 3 4 58

Products for FRG2B Gene

Sources for FRG2B Gene

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