FBXO8 Gene (Protein Coding)

F-Box Protein 8

GC04M174236
GIFtS:
38
This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing... See more...

Aliases for FBXO8 Gene

Aliases for FBXO8 Gene

  • F-Box Protein 8 2 3 5
  • F-Box Only Protein 8 2 3 4
  • FBX8 2 3 4
  • FBS 2 3 4
  • F-Box/SEC7 Protein FBS 3 4
  • F-Box Protein Fbx8 3
  • FBXO8 5
  • DC10 3

External Ids for FBXO8 Gene

Previous GeneCards Identifiers for FBXO8 Gene

  • GC04M176077
  • GC04M175695
  • GC04M175742
  • GC04M175853
  • GC04M175532
  • GC04M175394
  • GC04M175157
  • GC04M170904

Summaries for FBXO8 Gene

Entrez Gene Summary for FBXO8 Gene

  • This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. It contains a C-terminal amino acid sequence that bears a significant similarity with a portion of yeast Sec7p, a critical regulator of vesicular protein transport. This human protein may interact with ADP-ribosylation factor(s)(ARFs) and exhibit ARF-GEF (guanine nucleotide exchange factor) activity. [provided by RefSeq, Jul 2008]

GeneCards Summary for FBXO8 Gene

FBXO8 (F-Box Protein 8) is a Protein Coding gene. Diseases associated with FBXO8 include Arthrogryposis, Distal, Type 10 and Cardiomyopathy, Familial Hypertrophic, 17. Among its related pathways are Arf6 signaling events. Gene Ontology (GO) annotations related to this gene include ARF guanyl-nucleotide exchange factor activity. An important paralog of this gene is IQSEC1.

UniProtKB/Swiss-Prot Summary for FBXO8 Gene

  • May promote guanine-nucleotide exchange on an ARF. Promotes the activation of ARF through replacement of GDP with GTP (Potential).

Additional gene information for FBXO8 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FBXO8 Gene

Genomics for FBXO8 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for FBXO8 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
GH04J174282 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 +0.1 66 4 SP1 ZNF207 NCOR1 MYC IKZF1 ZNF580 ATF2 POLR2A CEBPA NFIC CEP44 FBXO8 lnc-HPGD-5 HAND2
GH04J174263 Promoter 0.6 EPDnew 250.4 +20.6 20610 0.1 YY1 RXRA HNF4A SP1 NR2F2 FBXO8 lnc-HPGD-5 HAND2
GH04J173366 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 9.1 +913.1 913123 7.3 BCLAF1 ZNF600 NCOR1 MYC IKZF1 SIX5 ZNF580 KLF9 POLR2A NFIC HMGB2 HSALNG0038589 SAP30 SAP30-DT ENSG00000248774 SCRG1 RNU6-1096P CEP44 FBXO8 hsa-miR-5095-383
GH04J174423 Promoter/Enhancer 1.2 Ensembl ENCODE 10.5 -139.9 -139872 1.1 IKZF1 NCOR1 ZNF592 NFIC CEBPB BHLHE40 ARNT EP300 TAF9B NBN MIR4276 CEP44 FBXO8 ENSG00000261646 LINC02268 HSALNG0038644-001 HSALNG0038644-002 lnc-HPGD-2 piR-48049-063 HPGD
GH04J174255 Enhancer 0.8 Ensembl 11.6 +27.4 27367 1.4 ZNF600 JUND ATF2 FEZF1 ZNF316 ZNF843 BCL11B PRDM6 INSM2 ZSCAN23 FBXO8 CEP44 lnc-HPGD-5 HAND2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FBXO8 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FBXO8

Top Transcription factor binding sites by QIAGEN in the FBXO8 gene promoter:
  • AREB6
  • Cdc5
  • HTF
  • LUN-1
  • MZF-1
  • NCX
  • Pax-4a
  • POU2F1
  • POU2F1a
  • RORalpha1

Genomic Locations for FBXO8 Gene

Latest Assembly
chr4:174,236,658-174,283,667
(GRCh38/hg38)
Size:
47,010 bases
Orientation:
Minus strand

Previous Assembly
chr4:175,157,809-175,204,818
(GRCh37/hg19 by Entrez Gene)
Size:
47,010 bases
Orientation:
Minus strand

chr4:175,157,809-175,205,415
(GRCh37/hg19 by Ensembl)
Size:
47,607 bases
Orientation:
Minus strand

Genomic View for FBXO8 Gene

Genes around FBXO8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FBXO8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FBXO8 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for FBXO8 Gene

Proteins for FBXO8 Gene

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  • Protein details for FBXO8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NRD0-FBX8_HUMAN
    Recommended name:
    F-box only protein 8
    Protein Accession:
    Q9NRD0
    Secondary Accessions:
    • B2RB40
    • D3DP41
    • G5E9Z0
    • Q6UWN4
    • Q8IWE1
    • Q9NRP5
    • Q9UKC4

    Protein attributes for FBXO8 Gene

    Size:
    319 amino acids
    Molecular mass:
    37068 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAF04517.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for FBXO8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FBXO8 Gene

Protein Expression for FBXO8 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for FBXO8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FBXO8 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FBXO8 Gene

Domains & Families for FBXO8 Gene

Gene Families for FBXO8 Gene

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

Protein Domains for FBXO8 Gene

InterPro:
Blocks:
  • SEC7-like domain

Suggested Antigen Peptide Sequences for FBXO8 Gene

GenScript: Design optimal peptide antigens:
  • F-box/SEC7 protein FBS (FBX8_HUMAN)
  • FBXO8 protein (Q8IWE1_HUMAN)
genes like me logo Genes that share domains with FBXO8: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for FBXO8 Gene

Function for FBXO8 Gene

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  6. Cell Lines for research

Molecular function for FBXO8 Gene

UniProtKB/Swiss-Prot Function:
May promote guanine-nucleotide exchange on an ARF. Promotes the activation of ARF through replacement of GDP with GTP (Potential).

Phenotypes From GWAS Catalog for FBXO8 Gene

Gene Ontology (GO) - Molecular Function for FBXO8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity IEA --
GO:0005086 ARF guanyl-nucleotide exchange factor activity IEA --
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with FBXO8: view
genes like me logo Genes that share phenotypes with FBXO8: view

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FBXO8

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FBXO8 Gene

Localization for FBXO8 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 FBXO8 gene
Compartment Confidence
nucleus 3
cytosol 3
extracellular 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FBXO8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000151 ubiquitin ligase complex NAS 10945468
genes like me logo Genes that share ontologies with FBXO8: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for FBXO8 Gene

Pathways & Interactions for FBXO8 Gene

PathCards logo

SuperPathways for FBXO8 Gene

SuperPathway Contained pathways
1 Arf6 signaling events
Arf6 signaling events
-
genes like me logo Genes that share pathways with FBXO8: view

Pathways by source for FBXO8 Gene

1 BioSystems pathway for FBXO8 Gene

Gene Ontology (GO) - Biological Process for FBXO8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006511 ubiquitin-dependent protein catabolic process NAS 10945468
GO:0032012 regulation of ARF protein signal transduction IEA --
GO:0050790 regulation of catalytic activity IEA --
genes like me logo Genes that share ontologies with FBXO8: view

No data available for SIGNOR curated interactions for FBXO8 Gene

Drugs & Compounds for FBXO8 Gene

Products:

  1. Drug products for research

(1) Drugs for FBXO8 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with FBXO8: view

Transcripts for FBXO8 Gene

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mRNA/cDNA for FBXO8 Gene

1 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FBXO8

Alternative Splicing Database (ASD) splice patterns (SP) for FBXO8 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b
SP1: - -
SP2:
SP3: - -
SP4:
SP5: - - -

Relevant External Links for FBXO8 Gene

GeneLoc Exon Structure for
FBXO8

Expression for FBXO8 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FBXO8 Gene

mRNA expression in normal human tissues for FBXO8 Gene
mRNA expression by BioGPS for FBXO8 GenemRNA expression by GTEx for FBXO8 Gene

Protein differential expression in normal tissues from HIPED for FBXO8 Gene

This gene is overexpressed in Bone (54.8) and Breast (14.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FBXO8 Gene



Protein tissue co-expression partners for FBXO8 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FBXO8

SOURCE GeneReport for Unigene cluster for FBXO8 Gene:

Hs.76917

Evidence on tissue expression from TISSUES for FBXO8 Gene

  • Nervous system(4.6)
  • Spleen(4.5)
  • Lymph node(4.5)
  • Blood(4.4)
  • Intestine(2.2)
  • Liver(2.2)
  • Skin(2.1)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with FBXO8: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FBXO8 Gene

Orthologs for FBXO8 Gene

This gene was present in the common ancestor of animals.

Orthologs for FBXO8 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia FBXO8 29 30
  • 99.58 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia FBXO8 29 30
  • 95.19 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia FBXO8 29 30
  • 93.31 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Fbxo8 29 16 30
  • 92.16 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Fbxo8 29
  • 91.85 (n)
Oppossum
(Monodelphis domestica)
 Mammalia FBXO8 30
  • 77 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia FBXO8 30
  • 74 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves FBXO8 29 30
  • 86.42 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia FBXO8 30
  • 94 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia fbxo8 29
  • 76.27 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.18650 29
Zebrafish
(Danio rerio)
 Actinopterygii fbxo8 29 30
  • 70.55 (n)
 OneToOne
Worm
(Caenorhabditis elegans)
 Secernentea M02B7.5 30
  • 10 (a)
 OneToOne
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.8763 30
  • 51 (a)
 OneToOne
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.713 29
Species where no ortholog for FBXO8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 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)

Evolution for FBXO8 Gene

ENSEMBL:
Gene Tree for FBXO8 (if available)
TreeFam:
Gene Tree for FBXO8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FBXO8: view image
Alliance of Genome Resources:
Additional Orthologs for FBXO8

Paralogs for FBXO8 Gene

Paralogs for FBXO8 Gene

(2) SIMAP similar genes for FBXO8 Gene using alignment to 6 proteins:

  • FBX8_HUMAN
  • D6RIC0_HUMAN
  • D6RJ92_HUMAN
  • G5E9Z0_HUMAN
  • L8E7Z3_HUMAN
  • Q8IWE1_HUMAN
genes like me logo Genes that share paralogs with FBXO8: view

Variants for FBXO8 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FBXO8 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
rs115274413 Benign: not provided 174,237,602(-) G/A
NM_012180.3(FBXO8):c.773-3C>T 		INTRON
rs61748174 Benign: not provided 174,259,787(-) T/C
NM_012180.3(FBXO8):c.368A>G (p.Asn123Ser) 		MISSENSE
rs77119323 Benign: not provided 174,237,490(-) G/A
NM_012180.3(FBXO8):c.882C>T (p.Arg294=) 		SYNONYMOUS
VAR_036157 A breast cancer sample p.Leu269Ile
rs17854000 -- p.Tyr156His

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for FBXO8 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for FBXO8 Gene

Variant ID Type Subtype PubMed ID
esv2123340 CNV deletion 18987734
esv2728766 CNV deletion 23290073
nsv479066 CNV novel sequence insertion 20440878
nsv480020 CNV novel sequence insertion 20440878
nsv596234 CNV gain 21841781

Variation tolerance for FBXO8 Gene

Residual Variation Intolerance Score: 46.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.87; 18.14% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FBXO8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FBXO8
Leiden Open Variation Database (LOVD)
FBXO8

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FBXO8 Gene

Disorders for FBXO8 Gene

MalaCards: The human disease database

(5) MalaCards diseases for FBXO8 Gene - From: COP

Disorder Aliases PubMed IDs
arthrogryposis, distal, type 10
  • da10
cardiomyopathy, familial hypertrophic, 17
  • cmh17
acinar cell cystadenocarcinoma
  • pancreatic acinar cell cystadenocarcinoma
arthrogryposis, distal, type 7
  • da7
distal arthrogryposis
  • arthrogryposis multiplex congenita
- elite association - COSMIC cancer census association via MalaCards
Search FBXO8 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for FBXO8

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with FBXO8: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FBXO8 Gene

Publications for FBXO8 Gene

  1. Identification of a family of human F-box proteins. (PMID: 10531035) Cenciarelli C … Pagano M (Current biology : CB 1999) 2 3 4
  2. Screening for replication of genome-wide SNP associations in sporadic ALS. (PMID: 18987618) Cronin S … Hardiman O (European journal of human genetics : EJHG 2009) 3 40
  3. 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
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4

ExternalLinks

View latest publications for FBXO8 gene in Mastermind

Products for FBXO8 Gene

  • Addgene plasmids for FBXO8

Sources for FBXO8 Gene