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Aliases for FBXO48 Gene

Aliases for FBXO48 Gene

  • F-Box Protein 48 2 3 5
  • FBX48 4

External Ids for FBXO48 Gene

Previous GeneCards Identifiers for FBXO48 Gene

  • GC02M068544
  • GC02M068689
  • GC02M068426

Summaries for FBXO48 Gene

GeneCards Summary for FBXO48 Gene

FBXO48 (F-Box Protein 48) is a Protein Coding gene. Diseases associated with FBXO48 include Parkinson Disease 15, Autosomal Recessive Early-Onset.

Additional gene information for FBXO48 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 FBXO48 Gene

Genomics for FBXO48 Gene

GeneHancer (GH) Regulatory Elements for FBXO48 Gene

Promoters and enhancers for FBXO48 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
GH02I068464 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 558.2 +0.7 651 3.6 HDGF PKNOX1 FOXA2 ZFP64 ARID4B SIN3A YY1 SLC30A9 ZNF766 ZNF143 FBXO48 APLF LOC391383 GC02P067636
GH02I068761 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 16.6 -302.1 -302064 16.7 PKNOX1 ATF1 YY1 ZNF766 ATF7 RUNX3 JUNB REST ZNF592 MEF2D ARHGAP25 FBXO48 APLF LINC01888 PLEK LOC105374790
GH02I068833 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 23 -367.9 -367884 2.8 BHLHE40 E2F5 MAX MAFG BACH1 PYGO2 RFX5 RELA ZNF592 ZNF316 FBXO48 PLEK LINC01890 APLF ARHGAP25 LINC01888
GH02I068732 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 7.1 -270.9 -270878 12 CTCF PKNOX1 IRF2 USF1 EBF1 CEBPG IRF9 FOSL1 POLR2A STAT2 ARHGAP25 PLEK LINC01888 FBXO48 APLF LOC105374790
GH02I068906 Enhancer 1.3 Ensembl ENCODE dbSUPER 11.1 -440.9 -440851 2.9 ATF1 TCF12 ZNF766 ELK1 FOS ATF7 DEK SP3 ZNF592 MEF2D BMP10 LINC01888 APLF FBXO48 GKN2 GKN3P LOC105374792
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FBXO48 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FBXO48 gene promoter:

Genomic Locations for FBXO48 Gene

Genomic Locations for FBXO48 Gene
chr2:68,459,419-68,467,316
(GRCh38/hg38)
Size:
7,898 bases
Orientation:
Minus strand
chr2:68,686,551-68,694,390
(GRCh37/hg19)

Genomic View for FBXO48 Gene

Genes around FBXO48 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FBXO48 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FBXO48 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FBXO48 Gene

Proteins for FBXO48 Gene

  • Protein details for FBXO48 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5FWF7-FBX48_HUMAN
    Recommended name:
    F-box only protein 48
    Protein Accession:
    Q5FWF7

    Protein attributes for FBXO48 Gene

    Size:
    155 amino acids
    Molecular mass:
    18241 Da
    Quaternary structure:
    No Data Available

neXtProt entry for FBXO48 Gene

Post-translational modifications for FBXO48 Gene

No Post-translational modifications

Other Protein References for FBXO48 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FBXO48 Gene

Domains & Families for FBXO48 Gene

Gene Families for FBXO48 Gene

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

Protein Domains for FBXO48 Gene

Suggested Antigen Peptide Sequences for FBXO48 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with FBXO48: view

No data available for UniProtKB/Swiss-Prot for FBXO48 Gene

Function for FBXO48 Gene

Phenotypes From GWAS Catalog for FBXO48 Gene

Phenotypes for FBXO48 Gene

genes like me logo Genes that share phenotypes with FBXO48: view

Animal Model Products

miRNA for FBXO48 Gene

miRTarBase miRNAs that target FBXO48

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FBXO48 Gene

Localization for FBXO48 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 FBXO48 gene
Compartment Confidence
extracellular 2
nucleus 2
mitochondrion 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for FBXO48 Gene

Pathways & Interactions for FBXO48 Gene

SuperPathways for FBXO48 Gene

No Data Available

Interacting Proteins for FBXO48 Gene

Selected Interacting proteins: Q5FWF7-FBX48_HUMAN for FBXO48 Gene via IID UniProtKB

Gene Ontology (GO) - Biological Process for FBXO48 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FBXO48 Gene

Drugs & Compounds for FBXO48 Gene

No Compound Related Data Available

Transcripts for FBXO48 Gene

mRNA/cDNA for FBXO48 Gene

(3) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FBXO48 Gene

F-box protein 48:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FBXO48 Gene

No ASD Table

Relevant External Links for FBXO48 Gene

GeneLoc Exon Structure for
FBXO48
ECgene alternative splicing isoforms for
FBXO48

Expression for FBXO48 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FBXO48 Gene

NURSA nuclear receptor signaling pathways regulating expression of FBXO48 Gene:

FBXO48

SOURCE GeneReport for Unigene cluster for FBXO48 Gene:

Hs.164117
genes like me logo Genes that share expression patterns with FBXO48: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , 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 FBXO48 Gene

Orthologs for FBXO48 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FBXO48 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FBXO48 33 34
  • 99.35 (n)
dog
(Canis familiaris)
Mammalia FBXO48 33 34
  • 90.11 (n)
cow
(Bos Taurus)
Mammalia FBXO48 33 34
  • 89.25 (n)
mouse
(Mus musculus)
Mammalia Fbxo48 33 16 34
  • 81.94 (n)
rat
(Rattus norvegicus)
Mammalia Fbxo48 33
  • 78.65 (n)
oppossum
(Monodelphis domestica)
Mammalia FBXO48 34
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FBXO48 34
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves FBXO48 33 34
  • 64.07 (n)
lizard
(Anolis carolinensis)
Reptilia FBXO48 34
  • 67 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii LOC100537883 33
  • 59.47 (n)
FBXO48 34
  • 52 (a)
OneToOne
Species where no ortholog for FBXO48 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)
  • 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 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)

Evolution for FBXO48 Gene

ENSEMBL:
Gene Tree for FBXO48 (if available)
TreeFam:
Gene Tree for FBXO48 (if available)

Paralogs for FBXO48 Gene

No data available for Paralogs for FBXO48 Gene

Variants for FBXO48 Gene

Sequence variations from dbSNP and Humsavar for FBXO48 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000125900 -- 68,468,988(-) G/C upstream_transcript_variant
rs1000208879 -- 68,460,539(-) T/C 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1000361613 -- 68,466,883(-) A/C intron_variant
rs1000392815 -- 68,467,045(-) G/A intron_variant
rs1000408231 -- 68,469,231(-) A/C upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for FBXO48 Gene

Variant ID Type Subtype PubMed ID
esv3591168 CNV loss 21293372
esv3892603 CNV loss 25118596

Variation tolerance for FBXO48 Gene

Residual Variation Intolerance Score: 53.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.24; 5.29% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FBXO48 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FBXO48

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FBXO48 Gene

Disorders for FBXO48 Gene

MalaCards: The human disease database

(1) MalaCards diseases for FBXO48 Gene - From: DISEASES

Disorder Aliases PubMed IDs
parkinson disease 15, autosomal recessive early-onset
  • park15
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for FBXO48

genes like me logo Genes that share disorders with FBXO48: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FBXO48 Gene

Publications for FBXO48 Gene

  1. Genetic analysis of the FBXO48 gene in Chinese Han patients with Parkinson disease. (PMID: 23485738) Xiu X … Deng H (Neuroscience letters 2013) 3 58
  2. Induction of IL-17 and nonclassical T-cell activation by HIV-Tat protein. (PMID: 23898208) Johnson TP … Nath A (Proceedings of the National Academy of Sciences of the United States of America 2013) 3 58
  3. Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. (PMID: 22190364) Patsopoulos NA … de Bakker PI (Annals of neurology 2011) 3 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 4 58
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 58

Products for FBXO48 Gene

Sources for FBXO48 Gene

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