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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.

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

Regulatory Elements for FBXO48 Gene

Enhancers for FBXO48 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G068833 1.7 FANTOM5 Ensembl ENCODE dbSUPER 23 -367.9 -367885 2.8 FOXA2 RAD21 RARA FOS CEBPB ZNF592 CEBPA RCOR2 HNF4A ILK FBXO48 PLEK LINC01890 APLF ARHGAP25 LINC01888
GH02G068761 1.7 FANTOM5 ENCODE dbSUPER 16.6 -302.1 -302064 16.7 PKNOX1 FOXA2 ATF1 CREB3L1 ZNF133 YY1 ZNF766 GATA2 ELK1 CBX5 ARHGAP25 FBXO48 APLF LINC01888 PLEK LOC105374790
GH02G068906 1.5 Ensembl ENCODE dbSUPER 11 -440.9 -440852 2.9 ATF1 TCF12 ZNF766 GATA2 ELK1 FOS DEK SP3 ZNF592 MEF2D BMP10 LINC01888 FBXO48 APLF GKN2 GKN3P LOC105374792
GH02G068714 1.4 Ensembl ENCODE dbSUPER 11.5 -248.4 -248421 2.4 ELF3 TBL1XR1 MLX ARID4B THRB RAD21 ZNF143 IKZF2 MIXL1 ZNF654 APLF FBXO48 LINC01888 ARHGAP25 LOC105374790
GH02G068827 1.9 FANTOM5 Ensembl ENCODE dbSUPER 7.9 -363.2 -363172 5.5 PKNOX1 FEZF1 ZNF2 YY1 FOS SP3 REST ZNF592 MEF2D ZNF610 PLEK LINC01890 FBXO48 ARHGAP25 APLF LINC01888 LOC105374790
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FBXO48 on UCSC Golden Path with GeneCards custom track

Promoters for FBXO48 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000118402 -84 2001 HDGF PKNOX1 CREB3L1 ZFP64 ARID4B SIN3A FEZF1 YY1 SLC30A9 ZNF766

Genomic Location for FBXO48 Gene

Chromosome:
2
Start:
68,459,419 bp from pter
End:
68,467,316 bp from pter
Size:
7,898 bases
Orientation:
Minus strand

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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

Protein Domains for FBXO48 Gene

InterPro:
ProtoNet:

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 for FBXO48 Gene

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

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:

CRISPR Products

Inhibitory RNA Products

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

Primer Products

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 34 35
  • 99.35 (n)
dog
(Canis familiaris)
Mammalia FBXO48 34 35
  • 90.11 (n)
cow
(Bos Taurus)
Mammalia FBXO48 34 35
  • 89.25 (n)
mouse
(Mus musculus)
Mammalia Fbxo48 34 16 35
  • 81.94 (n)
rat
(Rattus norvegicus)
Mammalia Fbxo48 34
  • 78.65 (n)
oppossum
(Monodelphis domestica)
Mammalia FBXO48 35
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FBXO48 35
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves FBXO48 34 35
  • 64.07 (n)
lizard
(Anolis carolinensis)
Reptilia FBXO48 35
  • 67 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii LOC100537883 34
  • 59.47 (n)
FBXO48 35
  • 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 Sequence Context AA Info Type
rs1000125900 -- 68,468,988(+) TAAAG(C/G)GGTGT intron-variant, upstream-variant-2KB
rs1000208879 -- 68,460,539(+) TTTTA(C/T)ATATA utr-variant-3-prime
rs1000361613 -- 68,466,883(+) AAGTG(A/C)AGTAA intron-variant, upstream-variant-2KB
rs1000392815 -- 68,467,045(+) TTGCA(A/G)CTGCT intron-variant, upstream-variant-2KB
rs1000408231 -- 68,469,231(+) TTGAA(A/C)CTTAA intron-variant, upstream-variant-2KB

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)

Relevant External Links 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
  • autosomal recessive early-onset parkinson disease 15
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for FBXO48

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (Neurosci. Lett. 2013) 3 64
  2. Induction of IL-17 and nonclassical T-cell activation by HIV-Tat protein. (PMID: 23898208) Johnson T.P. … Nath A. (Proc. Natl. Acad. Sci. U.S.A. 2013) 3 64
  3. Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. (PMID: 22190364) Patsopoulos N.A. … de Bakker P.I. (Ann. Neurol. 2011) 3 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 4 64
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3 64

Products for FBXO48 Gene

Sources for FBXO48 Gene

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