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Aliases for FBXL22 Gene

Aliases for FBXL22 Gene

  • F-Box And Leucine Rich Repeat Protein 22 2 3 5
  • F-Box And Leucine-Rich Protein 22 3
  • F-Box/LRR-Repeat Protein 22 3
  • Fbl22 3

External Ids for FBXL22 Gene

Previous GeneCards Identifiers for FBXL22 Gene

  • GC15P061676
  • GC15P063889
  • GC15P040715
  • GC15P063597
  • GC15P063773
  • GC15P064268
  • GC15P066289
  • GC15P066838
  • GC15P067367
  • GC15P067893

Summaries for FBXL22 Gene

Entrez Gene Summary for FBXL22 Gene

  • This gene encodes a member of the F-box protein family. This F-box protein interacts with S-phase kinase-associated protein 1A and cullin in order to form SCF complexes which function as ubiquitin ligases.[provided by RefSeq, Sep 2010]

GeneCards Summary for FBXL22 Gene

FBXL22 (F-Box And Leucine Rich Repeat Protein 22) is a Protein Coding gene. Diseases associated with FBXL22 include Specific Developmental Disorder. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation.

UniProtKB/Swiss-Prot for FBXL22 Gene

  • Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Promotes ubiquitination of sarcomeric proteins alpha-actinin-2 (ACTN2) and filamin-C (FLNC).

Additional gene information for FBXL22 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FBXL22 Gene

Genomics for FBXL22 Gene

GeneHancer (GH) Regulatory Elements for FBXL22 Gene

Promoters and enhancers for FBXL22 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
GH15I063593 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 550.8 +3.3 3278 8.5 HDGF PKNOX1 CLOCK MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 FBXL22 USP3 USP3-AS1 TRIP4 CSNK1G1 ZNF609 HERC1 GC15M063786
GH15I063495 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.5 -93.6 -93581 12.4 ZFP64 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 ZNF263 SP3 USP3 ENSG00000276651 LACTB TRIP4 ZNF609 RAB8B FBXL22 USP3-AS1 LINC02568 HERC1
GH15I063478 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 11.2 -114.8 -114791 4 PKNOX1 ATF1 FOXA2 SMAD1 FEZF1 ZNF766 ZNF207 ZNF143 FOS ATF7 USP3 LACTB HERC1 FBXL22 ENSG00000259268 CA12 SNX1 RAB8B TPM1 GC15P069438
GH15I063472 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 11.2 -119.9 -119890 4.3 HDGF PKNOX1 FOXA2 SMAD1 MLX ZFP64 ARID4B SIN3A DMAP1 YBX1 USP3 FBXL22 CA12 RPS27L SNX1 HERC1 RAB8B ENSG00000259268 GC15P069438
GH15I063276 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 9.1 -317.1 -317122 2.3 ATF1 ARNT SIN3A ZNF2 ZBTB7B YY1 GLIS2 ZNF207 ZNF143 KLF7 APH1B LACTB RAB8B RPS27L FBXL22 USP3 TPM1-AS LOC105370858
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FBXL22 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FBXL22 gene promoter:

Genomic Locations for FBXL22 Gene

Genomic Locations for FBXL22 Gene
chr15:63,594,830-63,602,428
(GRCh38/hg38)
Size:
7,599 bases
Orientation:
Plus strand
chr15:63,889,552-63,894,627
(GRCh37/hg19)

Genomic View for FBXL22 Gene

Genes around FBXL22 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FBXL22 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FBXL22 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FBXL22 Gene

Proteins for FBXL22 Gene

  • Protein details for FBXL22 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6P050-FXL22_HUMAN
    Recommended name:
    F-box and leucine-rich protein 22
    Protein Accession:
    Q6P050

    Protein attributes for FBXL22 Gene

    Size:
    247 amino acids
    Molecular mass:
    27269 Da
    Quaternary structure:
    • Directly interacts with SKP1 and CUL1.
    SequenceCaution:
    • Sequence=AAH65833.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for FBXL22 Gene

Post-translational modifications for FBXL22 Gene

No Post-translational modifications

No data available for DME Specific Peptides for FBXL22 Gene

Domains & Families for FBXL22 Gene

Gene Families for FBXL22 Gene

Protein Domains for FBXL22 Gene

Suggested Antigen Peptide Sequences for FBXL22 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with FBXL22: view

No data available for UniProtKB/Swiss-Prot for FBXL22 Gene

Function for FBXL22 Gene

Molecular function for FBXL22 Gene

UniProtKB/Swiss-Prot Function:
Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Promotes ubiquitination of sarcomeric proteins alpha-actinin-2 (ACTN2) and filamin-C (FLNC).

Phenotypes From GWAS Catalog for FBXL22 Gene

Gene Ontology (GO) - Molecular Function for FBXL22 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity TAS --
GO:0061630 ubiquitin protein ligase activity IDA 22972877
genes like me logo Genes that share ontologies with FBXL22: view

Phenotypes for FBXL22 Gene

genes like me logo Genes that share phenotypes with FBXL22: view

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for FBXL22 Gene

Localization for FBXL22 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FBXL22 Gene

Cytoplasm, myofibril, sarcomere, Z line.

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 FBXL22 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Nucleoli (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FBXL22 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA,TAS --
GO:0030018 Z disc IEA --
genes like me logo Genes that share ontologies with FBXL22: view

Pathways & Interactions for FBXL22 Gene

genes like me logo Genes that share pathways with FBXL22: view

UniProtKB/Swiss-Prot Q6P050-FXL22_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for FBXL22 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination TAS --
GO:0016567 protein ubiquitination IEA --
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process IDA 22972877
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with FBXL22: view

No data available for SIGNOR curated interactions for FBXL22 Gene

Drugs & Compounds for FBXL22 Gene

No Compound Related Data Available

Transcripts for FBXL22 Gene

Unigene Clusters for FBXL22 Gene

F-box and leucine-rich repeat protein 22:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FBXL22 Gene

No ASD Table

Relevant External Links for FBXL22 Gene

GeneLoc Exon Structure for
FBXL22
ECgene alternative splicing isoforms for
FBXL22

Expression for FBXL22 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FBXL22 Gene

mRNA differential expression in normal tissues according to GTEx for FBXL22 Gene

This gene is overexpressed in Colon - Sigmoid (x6.5), Uterus (x4.7), and Artery - Tibial (x4.2).

Protein differential expression in normal tissues from HIPED for FBXL22 Gene

This gene is overexpressed in Colon (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for FBXL22 Gene



Protein tissue co-expression partners for FBXL22 Gene

NURSA nuclear receptor signaling pathways regulating expression of FBXL22 Gene:

FBXL22

SOURCE GeneReport for Unigene cluster for FBXL22 Gene:

Hs.631163

mRNA Expression by UniProt/SwissProt for FBXL22 Gene:

Q6P050-FXL22_HUMAN
Tissue specificity: Enriched in cardiac muscle.
genes like me logo Genes that share expression patterns with FBXL22: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for FBXL22 Gene

Orthologs for FBXL22 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FBXL22 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FBXL22 33
  • 99.44 (n)
cow
(Bos Taurus)
Mammalia FBXL22 34
  • 54 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FBXL22 34
  • 50 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fbxl22 34
  • 49 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FBXL22 34
  • 36 (a)
OneToOne
chicken
(Gallus gallus)
Aves FBXL22 34
  • 42 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii fbxl22 34
  • 37 (a)
OneToOne
Species where no ortholog for FBXL22 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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 FBXL22 Gene

ENSEMBL:
Gene Tree for FBXL22 (if available)
TreeFam:
Gene Tree for FBXL22 (if available)

Paralogs for FBXL22 Gene

No data available for Paralogs for FBXL22 Gene

Variants for FBXL22 Gene

Sequence variations from dbSNP and Humsavar for FBXL22 Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs1000069419 -- 63,602,675(+) G/C downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant
rs1000312275 -- 63,597,993(+) G/C 5_prime_UTR_variant, intron_variant
rs1000695375 -- 63,608,160(+) A/G genic_downstream_transcript_variant, intron_variant
rs1000861474 -- 63,604,224(+) G/C genic_downstream_transcript_variant, intron_variant
rs1001126449 -- 63,596,444(+) C/T 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for FBXL22 Gene

Variant ID Type Subtype PubMed ID
nsv827357 CNV gain 20364138
nsv833034 CNV loss 17160897

Variation tolerance for FBXL22 Gene

Residual Variation Intolerance Score: 65.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.41; 63.79% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FBXL22 Gene

Human Gene Mutation Database (HGMD)
FBXL22
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FBXL22

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FBXL22 Gene

Disorders for FBXL22 Gene

MalaCards: The human disease database

(1) MalaCards diseases for FBXL22 Gene - From: DISEASES

Disorder Aliases PubMed IDs
specific developmental disorder
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for FBXL22

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with FBXL22: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FBXL22 Gene

Publications for FBXL22 Gene

  1. F-box and leucine-rich repeat protein 22 is a cardiac-enriched F-box protein that regulates sarcomeric protein turnover and is essential for maintenance of contractile function in vivo. (PMID: 22972877) Spaich S … Frey N (Circulation research 2012) 2 3 4 58
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  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 58
  4. Systematic analysis and nomenclature of mammalian F-box proteins. (PMID: 15520277) Jin J … Harper JW (Genes & development 2004) 3 4 58
  5. Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. (PMID: 24324551) Deng X … REDSII Chagas Study Group from the NHLBI Retrovirus Epidemiology Donor Study-II Component International (PloS one 2013) 3 58

Products for FBXL22 Gene

Sources for FBXL22 Gene

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