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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.

No data available for Entrez Gene 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around FBXO48 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for FBXO48 Gene at MOPED

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

Q5FWF7

UniProtKB/Swiss-Prot:

FBX48_HUMAN :
  • Contains 1 F-box domain.
Domain:
  • Contains 1 F-box domain.
genes like me logo Genes that share domains with FBXO48: view

Function for FBXO48 Gene

Phenotypes for FBXO48 Gene

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

Animal Model Products

CRISPR 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
Jensen Localization Image for FBXO48 Gene COMPARTMENTS Subcellular localization image for FBXO48 gene
Compartment Confidence
extracellular 2
nucleus 2
cytosol 1
mitochondrion 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

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

(2) 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:

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 for FBXO48 Gene

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 , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia FBXO48 35
  • 89.25 (n)
  • 86.45 (a)
FBXO48 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FBXO48 35
  • 90.11 (n)
  • 85.81 (a)
FBXO48 36
  • 64 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fbxo48 35
  • 81.94 (n)
  • 75.48 (a)
Fbxo48 16
Fbxo48 36
  • 73 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FBXO48 35
  • 99.35 (n)
  • 98.71 (a)
FBXO48 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fbxo48 35
  • 78.65 (n)
  • 70.59 (a)
oppossum
(Monodelphis domestica)
Mammalia FBXO48 36
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FBXO48 36
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves FBXO48 35
  • 64.07 (n)
  • 57.79 (a)
FBXO48 36
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FBXO48 36
  • 67 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii LOC100537883 35
  • 59.47 (n)
  • 59.2 (a)
FBXO48 36
  • 52 (a)
OneToOne
Species with no ortholog for FBXO48:
  • 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
rs12614904 - 68,465,099(+) CTTCT(A/G)TGTGA reference, missense
rs7419812 -- 68,465,493(+) cgatt(C/T)tcttg intron-variant
rs62146965 -- 68,465,518(+) GCCCC(A/T)CTTTA intron-variant
rs75931674 -- 68,465,505(+) CTCAG(A/C)GTACC intron-variant
rs35477253 -- 68,465,495(+) ATTCT(C/T)TTGAC intron-variant

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Relevant External Links for FBXO48 Gene

Disorders for FBXO48 Gene

Relevant External Links for FBXO48

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FBXO48

No disorders were found for FBXO48 Gene.

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

Publications for FBXO48 Gene

  1. 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 67
  2. Genetic analysis of the FBXO48 gene in Chinese Han patients with Parkinson disease. (PMID: 23485738) Xiu X. … Deng H. (Neurosci. Lett. 2013) 3
  3. Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. (PMID: 22190364) Patsopoulos N.A. … de Bakker P.I. (Ann. Neurol. 2011) 3
  4. 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

Products for FBXO48 Gene

Sources for FBXO48 Gene

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