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Aliases for FBXO40 Gene

Aliases for FBXO40 Gene

  • F-Box Protein 40 2 3 5
  • Muscle Disease-Related Protein 3 4
  • FBX40 3 4
  • KIAA1195 4

External Ids for FBXO40 Gene

Previous GeneCards Identifiers for FBXO40 Gene

  • GC03P122634
  • GC03P122794
  • GC03P121312
  • GC03P118686

Summaries for FBXO40 Gene

Entrez Gene Summary for FBXO40 Gene

  • Members of the F-box protein family, such as FBXO40, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

GeneCards Summary for FBXO40 Gene

FBXO40 (F-Box Protein 40) is a Protein Coding gene. GO annotations related to this gene include ubiquitin-protein transferase activity. An important paralog of this gene is FBXO30.

UniProtKB/Swiss-Prot for FBXO40 Gene

  • Probable substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex that may function in myogenesis.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FBXO40 Gene

Genomics for FBXO40 Gene

Regulatory Elements for FBXO40 Gene

Enhancers for FBXO40 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 FBXO40 on UCSC Golden Path with GeneCards custom track

Genomic Location for FBXO40 Gene

121,593,119 bp from pter
121,630,295 bp from pter
37,177 bases
Plus strand

Genomic View for FBXO40 Gene

Genes around FBXO40 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FBXO40 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FBXO40 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FBXO40 Gene

Proteins for FBXO40 Gene

  • Protein details for FBXO40 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    F-box only protein 40
    Protein Accession:
    Secondary Accessions:
    • B2RAX7
    • Q32M70
    • Q9ULM5

    Protein attributes for FBXO40 Gene

    709 amino acids
    Molecular mass:
    79782 Da
    Quaternary structure:
    • Directly interacts with SKP1 and CUL1.
    • The expression decreases in the dystrophic muscle of Limb-girdle muscular dystrophy (LGMD) patient.
    • Sequence=BAA86509.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for FBXO40 Gene

Proteomics data for FBXO40 Gene at MOPED

Post-translational modifications for FBXO40 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FBXO40 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FBXO40 Gene

Domains & Families for FBXO40 Gene

Gene Families for FBXO40 Gene

Protein Domains for FBXO40 Gene

Suggested Antigen Peptide Sequences for FBXO40 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 F-box domain.
  • Contains 1 TRAF-type zinc finger.
  • Contains 1 F-box domain.
  • Contains 1 TRAF-type zinc finger.
genes like me logo Genes that share domains with FBXO40: view

Function for FBXO40 Gene

Molecular function for FBXO40 Gene

UniProtKB/Swiss-Prot Function:
Probable substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex that may function in myogenesis.

Gene Ontology (GO) - Molecular Function for FBXO40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with FBXO40: view
genes like me logo Genes that share phenotypes with FBXO40: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FBXO40 Gene

Localization for FBXO40 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FBXO40 Gene


Subcellular locations from

Jensen Localization Image for FBXO40 Gene COMPARTMENTS Subcellular localization image for FBXO40 gene
Compartment Confidence
nucleus 3
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components for FBXO40 Gene

Pathways & Interactions for FBXO40 Gene

SuperPathways for FBXO40 Gene

No Data Available

Interacting Proteins for FBXO40 Gene

STRING Interaction Network Preview (showing 3 interactants - click image to see details)
Selected Interacting proteins: ENSP00000337510 for FBXO40 Gene via STRING

Gene Ontology (GO) - Biological Process for FBXO40 Gene


No data available for Pathways by source and SIGNOR curated interactions for FBXO40 Gene

Drugs & Compounds for FBXO40 Gene

No Compound Related Data Available

Transcripts for FBXO40 Gene

mRNA/cDNA for FBXO40 Gene

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

Unigene Clusters for FBXO40 Gene

F-box protein 40:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FBXO40 Gene

No ASD Table

Relevant External Links for FBXO40 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for FBXO40 Gene

mRNA expression in normal human tissues for FBXO40 Gene

mRNA differential expression in normal tissues according to GTEx for FBXO40 Gene

This gene is overexpressed in Heart - Left Ventricle (x19.6), Heart - Atrial Appendage (x15.7), and Muscle - Skeletal (x15.1).

Protein differential expression in normal tissues from HIPED for FBXO40 Gene

This gene is overexpressed in Plasma (46.0) and Tlymphocyte (17.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FBXO40 Gene

SOURCE GeneReport for Unigene cluster for FBXO40 Gene Hs.272564

mRNA Expression by UniProt/SwissProt for FBXO40 Gene

Tissue specificity: Expressed only in heart and skeletal muscle.
genes like me logo Genes that share expression patterns with FBXO40: view

Protein tissue co-expression partners for FBXO40 Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for FBXO40 Gene

Orthologs for FBXO40 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FBXO40 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia FBXO40 35
  • 88.43 (n)
  • 88.39 (a)
FBXO40 36
  • 86 (a)
(Canis familiaris)
Mammalia FBXO40 35
  • 86.58 (n)
  • 87.15 (a)
FBXO40 36
  • 85 (a)
(Mus musculus)
Mammalia Fbxo40 35
  • 84.77 (n)
  • 85.15 (a)
Fbxo40 16
Fbxo40 36
  • 84 (a)
(Pan troglodytes)
Mammalia FBXO40 35
  • 99.62 (n)
  • 99.44 (a)
FBXO40 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Fbxo40 35
  • 84.06 (n)
  • 85.43 (a)
(Monodelphis domestica)
Mammalia FBXO40 36
  • 80 (a)
(Ornithorhynchus anatinus)
Mammalia FBXO40 36
  • 63 (a)
(Gallus gallus)
Aves FBXO40 35
  • 68.66 (n)
  • 67.64 (a)
FBXO40 36
  • 64 (a)
(Anolis carolinensis)
Reptilia FBXO40 36
  • 57 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia fbxo40 35
  • 62.74 (n)
  • 58.66 (a)
(Danio rerio)
Actinopterygii si:dkeyp-69c1.10 35
  • 56.86 (n)
  • 49.33 (a)
FBXO40 (1 of 2) 36
  • 46 (a)
FBXO40 (2 of 2) 36
  • 46 (a)
Species with no ortholog for FBXO40:
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FBXO40 Gene

Gene Tree for FBXO40 (if available)
Gene Tree for FBXO40 (if available)

Paralogs for FBXO40 Gene

Paralogs for FBXO40 Gene

(1) SIMAP similar genes for FBXO40 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with FBXO40: view

Variants for FBXO40 Gene

Sequence variations from dbSNP and Humsavar for FBXO40 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs4676684 - 121,621,689(+) GCAGG(C/T)GTGCC reference, missense
rs1873645 -- 121,629,652(-) CCACA(A/G)AGCAG utr-variant-3-prime
rs2331812 -- 121,623,834(-) gtgca(C/T)gcctg intron-variant
rs2331813 -- 121,613,032(-) agtgc(A/G)gtggc intron-variant
rs2331814 -- 121,612,975(-) ctccc(C/G)cctca intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FBXO40 Gene

Variant ID Type Subtype PubMed ID
nsv877381 CNV Gain 21882294
dgv1489e1 CNV Complex 17122850
nsv877382 CNV Gain 21882294
nsv10310 CNV Gain 18304495

Variation tolerance for FBXO40 Gene

Residual Variation Intolerance Score: 84.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.35; 94.18% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for FBXO40 Gene

Disorders for FBXO40 Gene

Relevant External Links for FBXO40

Genetic Association Database (GAD)
Atlas of Genetics and Cytogenetics in Oncology and Haematology:

No disorders were found for FBXO40 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FBXO40 Gene

Publications for FBXO40 Gene

  1. Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10574462) Nagase T. … Ohara O. (DNA Res. 1999) 2 3 4 67
  2. FBXO40, a gene encoding a novel muscle-specific F-box protein, is upregulated in denervation-related muscle atrophy. (PMID: 17928169) Ye J. … Zhu D. (Gene 2007) 3 23
  3. A genome-wide association study in Caucasian women points out a putative role of the STXBP5L gene in facial photoaging. (PMID: 23223146) Le Clerc S. … Zagury J.F. (J. Invest. Dermatol. 2013) 3
  4. Quantitative analysis of HSP90-client interactions reveals principles of substrate recognition. (PMID: 22939624) Taipale M. … Lindquist S. (Cell 2012) 3
  5. A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB. (PMID: 19734545) Need A.C. … Goldstein D.B. (Hum. Mol. Genet. 2009) 3

Products for FBXO40 Gene

Sources for FBXO40 Gene