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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

FBXL22 Gene

protein-coding GIFtS: 39
GCID: GC15P063889

F-box and leucine-rich repeat protein 22

Search for FBXL22
in

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
F-Box And Leucine-Rich Repeat Protein 22¹ ²
Fbl22¹ ²
FLJ39626¹
F-Box And Leucine-Rich Protein 22²
F-Box/LRR-Repeat Protein 22²

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for FBXL22:

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)

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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000015.9 NC_018926.1 NT_010194.17

Regulatory elements:

SABiosciences 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 plasmid: FBXL22 promoter sequence

Search SABiosciences Chromatin IP Primers for FBXL22

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: FXL22_HUMAN, Q6P050 (See protein sequence)

Recommended Name: F-box and leucine-rich protein 22

Size: 241 amino acids; 26527 Da

Subunit: Directly interacts with SKP1 and CUL1

Subcellular location: Cytoplasm, myofibril, sarcomere, Z line

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

FBXL22 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_976307.2

ENSEMBL proteins:

ENSP00000353794 ENSP00000453697

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Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0030018	Z disc	IEA	--

FBXL22 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

FBXL22 for domains About GeneDecksing

1 InterPro domain/family:

IPR001810 F-box_dom_cyclin-like

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

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

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)

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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
About This Section

UniProtKB/Swiss-Prot: FXL22_HUMAN, Q6P050

Pathway: Protein modification; protein ubiquitination

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for FBXL22

Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0016567	protein ubiquitination	IEA	--

FBXL22 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for FBXL22
Search CenterWatch for drugs/clinical trials and news about FBXL22 / FXL22

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 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,
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About This Section

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

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000360587(uc002amn.3) ENST00000534939(uc002amm.2) ENST00000560325

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Additional cDNA 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:

AA227732 AI805077 AW290886 AI266649 CR624191 AK096945 BC065833 AA495872

AL533912 AL533913 AW173352 NM_203373 AI193437 BX409707 AI399808 AW183926

AI640416 BU681444 AA424800 T82698 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

FBXL22 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AAGCTTACCT

About this image

FBXL22 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

7 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Gut Tube

Hindgut

Hindgut Endoderm Cells

Endoderm

Gut Tube

Midgut

Midgut Endoderm Cells

Endoderm

Neural Tube

Spinal Neural Tube Cells

Neural Ectoderm

Eye

Gut Tube

Gut Tube

Presumptive Spinal Cord

Spinal Cord

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See FBXL22 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for FBXL22

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)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for FBXL22 gene from 2/6 species (see all 6) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	FBXL22⁶	Uncharacterized protein	38(a)	1 → many	10(4977793-4981447)
zebrafish (Danio rerio)	Actinopterygii	fbxl22⁶	F-box and leucine-rich repeat protein 22	36(a)	1 → many	25(27593808-27619594)

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)
About This Section

Paralogs for FBXL22 gene

ENSG00000259662²

FBXL22 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 15 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs62012782^1,2	F,	--	40712073(+)	`TCCAGC/TTGGGC`	1	--	us2k¹		1		NA	120
rs11852940^1,2	C,F,A,H,	--	40712778(+)	`AGAACG/ATGGCC`	1	--	us2k¹		2		NA WA	122
rs75003687^1,2		--	40712899(+)	`GGAAAC/TGGGTC`	1	--	us2k¹		0	--	--	--	--
rs75255920^1,2		--	40712923(+)	`AGCCTC/TGGGTA`	1	--	us2k¹		0	--	--	--	--
rs4074448^1,2	C,F,A,H,	--	40712924(+)	`GCCTCG/AGGTAC`	1	--	us2k¹		29		NS EA NA WA CSA	2777
rs78974739^1,2	F,	--	40712932(+)	`TACTCA/GGGAAG`	1	--	us2k¹		1		WA	118
rs59452472^1,2	C,	--	40713255(+)	`AAACTA/TCAAAA`	1	--	us2k¹		2		WA	120
rs112818521^1,2		--	40713292(+)	`ATAAAG/ACATAA`	1	--	us2k¹		1		CSA	2
rs77509274^1,2		--	40713344(+)	`ATTCTT/CTTATG`	1	--	us2k¹		1		WA	118
rs75337213^1,2	F,	--	40713450(+)	`CCTGGA/GGACAA`	1	--	us2k¹		1		WA	118

HapMap Linkage Disequilibrium report for FBXL22 (63889552 - 63894627 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for 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.)
About This Section

FBXL22 for disorders About MalaCards

FBXL22 for disorders About GeneDecksing

OMIM gene information: 609088 OMIM disorders: --

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)
About This Section

PubMed articles for FBXL22 gene integrated from 9 sources:
(articles sorted by number of sources associating them with FBXL22)

Utopia: connect your pdf to the dynamic
world of online information

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. (2012)
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. (2004)
Systematic analysis and nomenclature of mammalian F-box proteins. (PubMed id 15520277)^{1, 2} Jin J....Harper J.W. (2004)
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. (2002)
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)¹ Rose J.E....Uhl G.R. (2010)
The LIFEdb database in 2006. (PubMed id 16381901)¹ Mehrle A....Wiemann S. (2006)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)¹ Ota T.... Sugano S. (2004)
From ORFeome to biology: a functional genomics pipeline. (PubMed id 15489336)¹ Wiemann S....Poustka A. (2004)
DNA cloning using in vitro site-specific recombination. (PubMed id 11076863)¹ Hartley J.L....Brasch M.A. (2000)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
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)
About This Section

Entrez Gene: 283807	HGNC: 27537	AceView: FBXL22	Ensembl:ENSG00000197361	euGenes: HUgn283807
ECgene: FBXL22	H-InvDB: FBXL22

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for FBXL22	Pharmacogenomics, SNPs, Pathways

Intellectual Property for FBXL22 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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About This Section


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GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes FBXL22 gene at Home site.

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FBXL22 Gene

F-box and leucine-rich repeat protein 22

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FBXL22 Gene

F-box and leucine-rich repeat protein 22

Aliasesfor FBXL22 gene

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Protein Domains /Familiesfor FBXL22 gene

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