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FBXL22 Gene

protein-coding   GIFtS: 42
GCID: GC15P063889

F-Box And Leucine-Rich Repeat Protein 22

  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
F-Box And Leucine-Rich Repeat Protein 221 2
Fbl222
F-Box And Leucine-Rich Protein 222
F-Box/LRR-Repeat Protein 222
FBL225

External Ids:    HGNC: 275371   Entrez Gene: 2838072   Ensembl: ENSG000001973617   OMIM: 6090885   UniProtKB: Q6P0503   

Export aliases for FBXL22 gene to outside databases

Previous GC identifers: GC15P061676 GC15P040715


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 cervicitis.

UniProtKB/Swiss-Prot: FXL22_HUMAN, Q6P050
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)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000015.10  NT_010194.18  NC_018926.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the FBXL22 gene promoter:
         Pax-5   AML1a   Pbx1a   AP-4   LCR-F1   Arnt   FOXL1   C/EBPalpha   HEN1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFBXL22 promoter sequence
   Search Chromatin IP Primers for FBXL22

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FBXL22


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q22.31   Ensembl cytogenetic band:  15q22.31   HGNC cytogenetic band: 15q22.1

FBXL22 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FBXL22 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P063889:  view genomic region     (about GC identifiers)

Start:
63,889,552 bp from pter      End:
63,894,627 bp from pter
Size:
5,076 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: FXL22_HUMAN, Q6P050 (See protein sequence)
Recommended Name: F-box and leucine-rich protein 22  
Size: 247 amino acids; 27269 Da
Subunit: Directly interacts with SKP1 and CUL1
Caution: It is uncertain whether Met-1 or Met-7 is the initiator
Sequence caution: Sequence=AAH65833.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

Explore the universe of human proteins at neXtProt for FBXL22: NX_Q6P050

Explore proteomics data for FBXL22 at MOPED


See FBXL22 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_976307.2  
ENSEMBL proteins: 
 ENSP00000353794   ENSP00000453697   ENSP00000473666   ENSP00000442112  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
FBXL: F-boxes / Leucine-rich repeats

1 InterPro protein domain:
 IPR001810 F-box_dom

Graphical View of Domain Structure for InterPro Entry Q6P050

ProtoNet protein and cluster: Q6P050

UniProtKB/Swiss-Prot: FXL22_HUMAN, Q6P050
Similarity: Contains 1 F-box domain


FBXL22 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: FXL22_HUMAN, Q6P050
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)

     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005515protein binding ----
     
FBXL22 for ontologies           About GeneDecksing


Phenotypes:
     1 MGI phenotypic allele for Fbxl22 (no phenotypes)

FBXL22 for phenotypes           About GeneDecksing

Animal Models:
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
FXL22_HUMAN, Q6P050: Cytoplasm, myofibril, sarcomere, Z line
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytosol2
nucleus2
extracellular1

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0030018Z disc IEA--

FBXL22 for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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UniProtKB/Swiss-Prot: FXL22_HUMAN, Q6P050
Pathway: Protein modification; protein ubiquitination

    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for FBXL22
Interactions:

    Search GeneGlobe Interaction Network for FBXL22

Gene Ontology (GO): 1 biological process term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0016567protein ubiquitination IEA--

FBXL22 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Tocris compounds for FBXL22 (FXL22)



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for FBXL22 gene: 
NM_203373.2  

Unigene Clusters for FBXL22:

F-box and leucine-rich repeat protein 22
Hs.631163  [show with all ESTs], Hs.656997  [show with all ESTs]
Unigene Representative Sequences: AK096945, NM_203373
4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000360587(uc002amn.3) ENST00000534939(uc002amm.2) ENST00000560325
ENST00000539570
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Additional mRNA sequence: BC065833.1 

16 DOTS entries:

DT.40117767  DT.100738742  DT.92060689  DT.427727  DT.100683158  DT.99930778  DT.213931  DT.92409463 
DT.100798065  DT.86853868  DT.97841559  DT.100798066  DT.121069197  DT.91914274  DT.95334709  DT.97829482 

23 AceView cDNA sequences:

AI266649 CR624191 AA227732 AK096945 AI805077 AW290886 AW173352 NM_203373 
AL533913 AA495872 AL533912 BX409707 AI399808 BC065833 AI193437 T82698 
AW183926 AI640416 BU681444 AA424800 BI116955 AA228117 CD358159 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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FBXL22 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: AAGCTTACCT
FBXL22 Expression
About this image


FBXL22 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 2) fully expand
 
 Gut Tube (Gastrointestinal Tract)    fully expand to see all 3 entries
         Hindgut
 
 Eye (Sensory Organs)
         Retina
FBXL22 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

FBXL22 Protein Expression

SOURCE GeneReport for Unigene clusters: Hs.631163 Hs.656997

UniProtKB/Swiss-Prot: FXL22_HUMAN, Q6P050
Tissue specificity: Enriched in cardiac muscle

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In Situ
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(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of chordates.

Orthologs for FBXL22 gene from Selected species (see all 7)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Fbxl225 F-box and leucine-rich repeat protein 22   --   9 (35.96 cM) 66508459 
chicken
(Gallus gallus)
Aves FBXL226
F-box and leucine-rich repeat protein 22
42(a)
1 ↔ 1
10(3532186-3535505)
zebrafish
(Danio rerio)
Actinopterygii fbxl226
F-box and leucine-rich repeat protein 22
37(a)
1 ↔ 1
25(27593808-27602792) ENSDARG00000096995


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

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for FBXL22 (see all 153)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 15 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1485270841,2
--43948653(+) TGGTAA/GTCTAG 1 -- us2k10--------
rs1848199761,2
--43948740(+) TTCCAG/TCTGGG 1 -- us2k10--------
rs620127821,2
C,F--43948741(+) TCCAGC/TTGGGC 1 -- us2k11Minor allele frequency- T:0.13NA 120
rs1897005901,2
--43948826(+) GCCTTG/TCAAGA 1 -- us2k10--------
rs1808732261,2
--43948827(+) CCTTGC/TAAGAA 1 -- us2k10--------
rs1861088171,2
--43948894(+) GAGGAC/TTGGGG 1 -- us2k10--------
rs1428243131,2
--43949126(+) GTACTG/TCATCT 1 -- us2k10--------
rs118528151,2
C,F,A,H--43949210(+) TACTTC/TCTTCT 1 -- us2k1 trp325Minor allele frequency- T:0.19NS EA NA WA CSA 2656
rs118529401,2
C,F,A,H--43949446(+) AGAACG/ATGGCC 1 -- us2k12Minor allele frequency- A:0.06NA WA 122
rs1510329071,2
--43949464(+) CTGCAC/TCATAT 1 -- us2k10--------

HapMap Linkage Disequilibrium report for FBXL22 (63889552 - 63894627 bp)

Structural Variations
     Database of Genomic Variants (DGV) 2 variations for FBXL22:    About this table    
Variant IDTypeSubtypePubMed ID
nsv833034CNV Loss17160897
nsv827357CNV Gain20364138

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing FBXL22
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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 609088    OMIM disorders: --

1 disease for FBXL22:    
About MalaCards
cervicitis


FBXL22 for disorders           About GeneDecksing

Genetic Association Database (GAD): FBXL22
Human Genome Epidemiology (HuGE) Navigator: FBXL22 (1 document)

Export disorders for FBXL22 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for FBXL22 gene, integrated from 10 sources (see all 11):
(articles sorted by number of sources associating them with FBXL22)
    Utopia: connect your pdf to the dynamic
world of online information

  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. (PubMed id 22972877)1, 2 Spaich S.... Frey N. (Circ. Res. 2012)
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  4. Systematic analysis and nomenclature of mammalian F-box proteins. (PubMed id 15520277)1, 2 Jin J....Harper J.W. (Genes Dev. 2004)
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  6. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
  7. Analysis of the DNA sequence and duplication history of human chromosome 15. (PubMed id 16572171)2 Zody M.C....Nusbaum C. (Nature 2006)
  8. The LIFEdb database in 2006. (PubMed id 16381901)1 Mehrle A....Wiemann S. (Nucleic Acids Res. 2006)
  9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (Nat. Genet. 2004)
  10. From ORFeome to biology: a functional genomics pipeline. (PubMed id 15489336)1 Wiemann S....Poustka A. (Genome Res. 2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 283807 HGNC: 27537 AceView: FBXL22 Ensembl:ENSG00000197361 euGenes: HUgn283807
ECgene: FBXL22 H-InvDB: FBXL22

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for FBXL22 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for FBXL22 gene:
Search GeneIP for patents involving FBXL22

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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