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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
  • F-Box Only Protein 40 3
  • 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. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. Gene Ontology (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.

Additional gene information for FBXO40 Gene

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

Genomics for FBXO40 Gene

GeneHancer (GH) Regulatory Elements for FBXO40 Gene

Promoters and enhancers for FBXO40 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03I121591 Promoter/Enhancer 1.4 EPDnew ENCODE dbSUPER 550.8 +0.1 100 2.6 CTCF MAX BACH1 CEBPG RAD21 ZNF316 POLR2A MAFK RXRA MAFG FBXO40 IQCB1 RN7SL172P GC03M121324
GH03I121574 Enhancer 0.8 ENCODE 0.4 -18.5 -18490 0.1 HDAC1 PKNOX1 TAF9B ZBTB40 TCF12 GATA2 FOS SP5 REST ZEB2 POLQ CSTA ARGFX FBXO40 GC03M121324
GH03I121599 Enhancer 0.4 dbSUPER 0.4 +8.7 8651 4 MEF2D SOX6 ATF2 POLQ IQCB1 FBXO40 RN7SL172P GC03M121324
GH03I121605 Enhancer 0.4 dbSUPER 0.4 +12.7 12748 1.5 ZNF555 ZFP64 ZNF623 IQCB1 FBXO40 RN7SL172P GC03M121324
GH03I121615 Enhancer 0.4 dbSUPER 0.3 +23.1 23085 1 MEIS2 CBFA2T3 IQCB1 FBXO40 RN7SL172P GC03M121324
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FBXO40 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FBXO40 gene promoter:

Genomic Locations for FBXO40 Gene

Genomic Locations for FBXO40 Gene
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

Post-translational modifications for FBXO40 Gene

No Post-translational modifications

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

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

Suggested Antigen Peptide Sequences for FBXO40 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for FBXO40 Gene

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.

Phenotypes From GWAS Catalog for FBXO40 Gene

Gene Ontology (GO) - Molecular Function for FBXO40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0004842 ubiquitin-protein transferase activity TAS --
GO:0008270 zinc ion binding IEA --
GO:0046872 metal ion binding IEA --
GO:0061630 ubiquitin protein ligase activity IEA --
genes like me logo Genes that share ontologies with FBXO40: view
genes like me logo Genes that share phenotypes with FBXO40: view

Clone 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

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 FBXO40 gene
Compartment Confidence
cytosol 5
nucleus 3

Gene Ontology (GO) - Cellular Components for FBXO40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with FBXO40: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FBXO40 Gene

Pathways & Interactions for FBXO40 Gene

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

Gene Ontology (GO) - Biological Process for FBXO40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination TAS --
GO:0042692 muscle cell differentiation ISS,IEA 17928169
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with FBXO40: view

No data available for 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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, PaxDb, and MOPED for FBXO40 Gene

Protein tissue co-expression partners for FBXO40 Gene

NURSA nuclear receptor signaling pathways regulating expression of FBXO40 Gene:


SOURCE GeneReport for Unigene cluster for FBXO40 Gene:


mRNA Expression by UniProt/SwissProt for FBXO40 Gene:

Tissue specificity: Expressed only in heart and skeletal muscle.

Evidence on tissue expression from TISSUES for FBXO40 Gene

  • Muscle(4.6)
  • Nervous system(4)
  • Heart(2.4)
genes like me logo Genes that share expression patterns with FBXO40: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
(Pan troglodytes)
Mammalia FBXO40 33 34
  • 99.62 (n)
(Bos Taurus)
Mammalia FBXO40 33 34
  • 88.43 (n)
(Canis familiaris)
Mammalia FBXO40 33 34
  • 86.58 (n)
(Mus musculus)
Mammalia Fbxo40 33 16 34
  • 84.77 (n)
(Rattus norvegicus)
Mammalia Fbxo40 33
  • 84.06 (n)
(Monodelphis domestica)
Mammalia FBXO40 34
  • 80 (a)
(Ornithorhynchus anatinus)
Mammalia FBXO40 34
  • 63 (a)
(Gallus gallus)
Aves FBXO40 33 34
  • 68.66 (n)
(Anolis carolinensis)
Reptilia FBXO40 34
  • 57 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia fbxo40 33
  • 62.74 (n)
(Danio rerio)
Actinopterygii si:dkeyp-69c1.10 33
  • 56.86 (n)
FBXO40 (1 of 2) 34
  • 46 (a)
FBXO40 (2 of 2) 34
  • 46 (a)
Species where no ortholog for FBXO40 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)
  • 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 Variation AA Info Type
rs1000003261 -- 121,612,333(+) G/A intron_variant
rs1000061197 -- 121,618,448(+) G/T intron_variant
rs1000116804 -- 121,602,277(+) C/T intron_variant
rs1000138860 -- 121,627,148(+) T/C 3_prime_UTR_variant
rs1000205196 -- 121,594,686(+) T/C intron_variant

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

Variant ID Type Subtype PubMed ID
nsv999349 CNV gain 25217958
nsv999335 CNV gain 25217958
nsv998740 CNV gain 25217958
nsv591400 CNV gain 21841781
nsv1141890 OTHER inversion 24896259
nsv1131721 CNV deletion 24896259
nsv10310 CNV gain 18304495
nsv1007522 CNV gain 25217958
esv3893771 CNV loss 25118596
esv3597597 CNV loss 21293372
esv3597593 CNV gain 21293372
esv3597587 CNV gain 21293372
esv3575599 CNV gain 25503493
esv3575598 CNV gain 25503493
esv3451038 OTHER inversion 20981092
esv2759172 CNV gain 17122850
dgv8524n54 CNV gain 21841781

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)

Additional Variant Information for FBXO40 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FBXO40 Gene

Disorders for FBXO40 Gene

Additional Disease Information for FBXO40

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. 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 4 22 58
  2. 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 research : an international journal for rapid publication of reports on genes and genomes 1999) 2 3 4 58
  3. A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB. (PMID: 19734545) Need AC … Goldstein DB (Human molecular genetics 2009) 3 44 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) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for FBXO40 Gene

Sources for FBXO40 Gene

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