Aliases for FBXO47 Gene

Aliases for FBXO47 Gene

  • F-Box Protein 47 2 3 5
  • F-Box Only Protein 47 3 4
  • FBXO47 5

External Ids for FBXO47 Gene

Previous GeneCards Identifiers for FBXO47 Gene

  • GC17U900551
  • GC17M034346
  • GC17M037092
  • GC17M032887

Summaries for FBXO47 Gene

GeneCards Summary for FBXO47 Gene

FBXO47 (F-Box Protein 47) is a Protein Coding gene. Diseases associated with FBXO47 include Renal Cell Carcinoma, Papillary, 1.

UniProtKB/Swiss-Prot Summary for FBXO47 Gene

  • Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FBXO47 Gene

Genomics for FBXO47 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FBXO47 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
GH17J038966 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 -0.1 -126 1.5 RXRA TBP ZNF143 HNF4A POLR2A ZBTB33 TAF1 RAD21 REST MAX FBXO47 piR-42491-093 HSALNG0116207 PLXDC1
GH17J038925 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.8 +41.6 41607 1.6 VEZF1 NBN ZEB2 YY1 FOSL1 SMARCA4 POLR2A FOXM1 TAF1 ZNF639 LINC00672 ENSG00000266588 FBXO47 C17orf98 PIP4K2B CWC25 piR-56759-246 LASP1
GH17J038840 Promoter/Enhancer 1.6 FANTOM5 Ensembl ENCODE CraniofacialAtlas 13.7 +126.5 126494 1.6 ZFP64 SMAD4 TEAD3 JUND CREM ATF1 SOX5 ZBTB33 NCOA1 ZNF362 C17orf98 HSALNG0116196 HSALNG0116197 FBXO47 CWC25 SOCS7 PCGF2
GH17J038740 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 11.2 +224.9 224921 3.6 ZIC2 ZNF341 RXRA PRDM10 HNF4A PKNOX1 ZNF362 BMI1 RFX1 GLIS1 C17orf98 PCGF2 MLLT6 FBXO47 PIP4K2B SOCS7 PSMB3 CISD3 hsa-miR-5095-223 HSALNG0116190
GH17J038926 Enhancer 1 ENCODE dbSUPER 11.8 +40.6 40633 0.2 HES1 VEZF1 NBN RUNX1 ZEB2 TAL1 ZFP91 SKIL FOSL1 SMARCA4 LINC00672 FBXO47 C17orf98 PIP4K2B CWC25 piR-56759-246 LASP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FBXO47 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FBXO47

Top Transcription factor binding sites by QIAGEN in the FBXO47 gene promoter:
  • AML1a
  • Egr-2
  • FOXI1
  • HFH-3
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • NF-AT4

Genomic Locations for FBXO47 Gene

Latest Assembly
chr17:38,936,278-38,967,476
(GRCh38/hg38)
Size:
31,199 bases
Orientation:
Minus strand

Previous Assembly
chr17:37,092,685-37,123,656
(GRCh37/hg19 by Entrez Gene)
Size:
30,972 bases
Orientation:
Minus strand

chr17:37,092,685-37,123,655
(GRCh37/hg19 by Ensembl)
Size:
30,971 bases
Orientation:
Minus strand

Genomic View for FBXO47 Gene

Genes around FBXO47 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FBXO47 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FBXO47 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FBXO47 Gene

Proteins for FBXO47 Gene

  • Protein details for FBXO47 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5MNV8-FBX47_HUMAN
    Recommended name:
    F-box only protein 47
    Protein Accession:
    Q5MNV8
    Secondary Accessions:
    • B2RTZ4

    Protein attributes for FBXO47 Gene

    Size:
    452 amino acids
    Molecular mass:
    51968 Da
    Quaternary structure:
    • Part of a SCF (SKP1-cullin-F-box) protein ligase complex.

neXtProt entry for FBXO47 Gene

Post-translational modifications for FBXO47 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FBXO47 Gene

No data available for DME Specific Peptides for FBXO47 Gene

Domains & Families for FBXO47 Gene

Gene Families for FBXO47 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FBXO47 Gene

Suggested Antigen Peptide Sequences for FBXO47 Gene

GenScript: Design optimal peptide antigens:
  • F-box only protein 47 (FBX47_HUMAN)
genes like me logo Genes that share domains with FBXO47: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for FBXO47 Gene

Function for FBXO47 Gene

Molecular function for FBXO47 Gene

UniProtKB/Swiss-Prot Function:
Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation.

Phenotypes From GWAS Catalog for FBXO47 Gene

Gene Ontology (GO) - Molecular Function for FBXO47 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with FBXO47: view
genes like me logo Genes that share phenotypes with FBXO47: view

Animal Models for FBXO47 Gene

MGI Knock Outs for FBXO47:
  • Fbxo47 Fbxo47<tm1a(EUCOMM)Wtsi>

miRNA for FBXO47 Gene

miRTarBase miRNAs that target FBXO47

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FBXO47

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FBXO47 Gene

Localization for FBXO47 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 FBXO47 gene
Compartment Confidence
mitochondrion 2
cytoskeleton 1
nucleus 1
cytosol 1
peroxisome 0

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for FBXO47 Gene

Pathways & Interactions for FBXO47 Gene

PathCards logo

SuperPathways for FBXO47 Gene

No Data Available

Interacting Proteins for FBXO47 Gene

Gene Ontology (GO) - Biological Process for FBXO47 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FBXO47 Gene

Drugs & Compounds for FBXO47 Gene

No Compound Related Data Available

Transcripts for FBXO47 Gene

mRNA/cDNA for FBXO47 Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FBXO47

Alternative Splicing Database (ASD) splice patterns (SP) for FBXO47 Gene

No ASD Table

Relevant External Links for FBXO47 Gene

GeneLoc Exon Structure for
FBXO47

Expression for FBXO47 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FBXO47 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FBXO47 Gene

This gene is overexpressed in Testis (x43.3).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FBXO47

SOURCE GeneReport for Unigene cluster for FBXO47 Gene:

Hs.549536

mRNA Expression by UniProt/SwissProt for FBXO47 Gene:

Q5MNV8-FBX47_HUMAN
Tissue specificity: Widely expressed, with highest levels in kidney, liver and pancreas. Down-regulated in tumors.
genes like me logo Genes that share expression patterns with FBXO47: view

Primer products for research

No data available for 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 FBXO47 Gene

Orthologs for FBXO47 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FBXO47 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FBXO47 30 31
  • 99.34 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FBXO47 30 31
  • 91.8 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FBXO47 30 31
  • 90.2 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Fbxo47 30 17 31
  • 86.53 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia FBXO47 31
  • 84 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Fbxo47 30
  • 83.67 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia FBXO47 31
  • 75 (a)
OneToOne
Chicken
(Gallus gallus)
Aves FBXO47 30 31
  • 74.19 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FBXO47 31
  • 73 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia fbxo47 30
  • 62.86 (n)
Species where no ortholog for FBXO47 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)
  • 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)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • 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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for FBXO47 Gene

ENSEMBL:
Gene Tree for FBXO47 (if available)
TreeFam:
Gene Tree for FBXO47 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FBXO47: view image

Paralogs for FBXO47 Gene

No data available for Paralogs for FBXO47 Gene

Variants for FBXO47 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FBXO47 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs759147995 - p.Arg182Gly
rs9906595 - p.Gln209Arg

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for FBXO47 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for FBXO47 Gene

Variant ID Type Subtype PubMed ID
esv1193917 CNV insertion 17803354
esv2669787 CNV deletion 23128226
esv3640533 CNV loss 21293372
nsv1071382 CNV deletion 25765185
nsv1146669 OTHER inversion 26484159

Variation tolerance for FBXO47 Gene

Residual Variation Intolerance Score: 92.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.04; 50.35% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FBXO47 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FBXO47

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FBXO47 Gene

Disorders for FBXO47 Gene

MalaCards: The human disease database

(1) MalaCards diseases for FBXO47 Gene - From: COP

Disorder Aliases PubMed IDs
renal cell carcinoma, papillary, 1
  • rccp1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for FBXO47

genes like me logo Genes that share disorders with FBXO47: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FBXO47 Gene

Publications for FBXO47 Gene

  1. Molecular cloning and characterization of FBXO47, a novel gene containing an F-box domain, located in the 17q12 band deleted in papillary renal cell carcinoma. (PMID: 15723337) Simon-Kayser B … Bezieau S (Genes, chromosomes & cancer 2005) 2 3 4
  2. FBXO47 regulates telomere-inner nuclear envelope integration by stabilizing TRF2 during meiosis. (PMID: 31724724) Hua R … Liu M (Nucleic acids research 2019) 3
  3. Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families. (PMID: 28397838) Harripaul R … Vincent JB (Molecular psychiatry 2018) 4
  4. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PMID: 23251661) Comuzzie AG … Butte NF (PloS one 2012) 3
  5. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PMID: 16625196) Zody MC … Nusbaum C (Nature 2006) 4

Products for FBXO47 Gene

Sources for FBXO47 Gene