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FLII Gene

protein-coding   GIFtS: 60

GC17M017901
flightless I homolog (Drosophila)
(Previous name: flightless I (Drosophila) homolog )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Products    

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

Aliases & Descriptions
flightless I homolog (Drosophila)1 2     MGC392651 2
FLIL1 2 3     flightless I (Drosophila) homolog1
FLI1 2     protein flightless-1 homolog2
Fli11 2     

External Ids:    HGNC: 37501   Entrez Gene: 23142   Ensembl: ENSG000001777317   UniProtKB: Q130453   

Export aliases for FLII gene to outside databases

Previous GC identifers: GC17M018393 GC17M019740 GC17M018091 GC17M018348 GC17M018088


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

Entrez Gene summary for FLII:
This gene encodes a protein with a gelsolin-like actin binding domain and an N-terminal leucine-rich repeat-protein
protein interaction domain. The protein is similar to a Drosophila protein involved in early embryogenesis and the
structural organization of indirect flight muscle. The gene is located within the Smith-Magenis syndrome region on
chromosome 17. (provided by RefSeq)

UniProtKB/Swiss-Prot: FLII_HUMAN, Q13045
Function: May play a role as coactivator in transcriptional activation by hormone-activated nuclear receptors (NR) and
acts in cooperation with NCOA2 and CARM1. Involved in estrogen hormone signaling. Involved in early embryonic
development (By similarity). May play a role in regulation of cytoskeletal rearrangements involved in cytokinesis and
cell migration

Gene Wiki entry for FLII

(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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FLII gene promoter:
         Max1   c-Myc   Max   RFX1   c-Myb   Egr-2   E47   Tal-1   AP-4   Arnt   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for FLII

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for FLII 


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

Entrez Gene cytogenetic band: 17p11.2   Ensembl cytogenetic band:  17p11.2   HGNC cytogenetic band: 17p11.2

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

GeneLoc gene densities for chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M017901:  view genomic region     (about GC identifiers)

Start:
17,901,403 bp from pter
End:
17,915,309 bp from pter
Size:
13,907 bases
Orientation:
minus strand

1 alternative location:
Chr17- 18,148,150-18,162,056     
RefSeq DNA sequence:
NC_000017.10  NT_010718.16  

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

UniProtKB/Swiss-Prot: FLII_HUMAN, Q13045 (See protein sequence)
Recommended Name: Protein flightless-1 homolog  
Size: 1269 amino acids; 144751 Da
Subunit: Interacts with actin, ACTL6A, NCOA2, CARM1, LRRFIP1 and LRRFIP2. Interacts with the nuclear receptors ESR1 and
THRB
Subcellular location: Nucleus (By similarity). Cytoplasm, cytoskeleton (By similarity). Cytoplasm, cytoskeleton,
centrosome (By similarity). Note=Colocalizes to actin-rich structures in blastocysts and, together with HRAS1, RHOA
and CDC42, in migrating fibroblasts. Localizes to centrosomes (By similarity)

Explore the universe of human proteins at neXtProt for FLII: NX_Q13045 

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_002009.1  

    ENSEMBL proteins: 
    ENSP00000368763 ENSP00000324573 


    Human Recombinant Proteins 
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    GenScript Custom Purified and Recombinant Proteins Services for FLII 
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins

    5 Gene Ontology (GO) cellular component terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634 nucleus IDA18029348
    GO:0005730NOT nucleolus IDA18029348
    GO:0005737 cytoplasm IDA18029348
    GO:0005813 centrosome IDA18029348
    GO:0005856 cytoskeleton IEA--
    About this table

    FLII for ontologies           About GeneDecksing



    Antibodies for FLII: 
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for FLII
    Browse R&D Systems for Antibodies
    OriGene Antibodies: FLII
    GenScript Custom Superior Antibodies Services for FLII 
    Novus Biologicals Antibodies for FLII
    Epitomics antibodies for FLII

    Assays for FLII: 
    Browse Kits and Assays available from Millipore
    Browse ELISAs at Sigma-Aldrich
    OriGene Custom Immunoassay Development 
    Browse OriGene Fluorogenic Cell Assay Kits 
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for FLII 
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for FLII 


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

    FLII for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR001611 Leu-rich_rpt
     IPR007122 Gelsolin
     IPR003591 Leu-rich_rpt_typical-subtyp
     IPR007123 Gelsolin_dom

    Graphical View of Domain Structure for InterPro Entry Q13045

    ProtoNet protein and cluster: Q13045

    2 Blocks protein families:
    IPB001611 Leucine-rich repeat signature
    IPB007123 Gelsolin region


    UniProtKB/Swiss-Prot: FLII_HUMAN, Q13045
    Similarity: Contains 5 gelsolin-like repeats
    Similarity: Contains 15 LRR (leucine-rich) repeats


    (According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
    About This Section

    UniProtKB/Swiss-Prot: FLII_HUMAN, Q13045
    Function: May play a role as coactivator in transcriptional activation by hormone-activated nuclear receptors (NR) and
    acts in cooperation with NCOA2 and CARM1. Involved in estrogen hormone signaling. Involved in early embryonic
    development (By similarity). May play a role in regulation of cytoskeletal rearrangements involved in cytokinesis and
    cell migration

    Inhib.
    RNA:
        
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich esiRNA and siRNA for FLII
    Sigma-Aldrich shRNA Panels and shRNA for FLII
    OriGene 29mer shRNA kits in GFP-retroviral vector: FLII
    OriGene shRNA RFP: FLII
    OriGene basic RS shRNA: FLII
    OriGene siRNA: FLII
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of FLII 
    miRNA:Browse microRNA Mimics at Sigma-Aldrich
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of FLII 
    1 SABiosciences Assays for microRNA that regulate FLII:
    hsa-miR-889

    Gene
    Editing:
    Browse CompoZr Knockout ZFN at Sigma-Aldrich 

    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    Browse iPSC Reprogramming Factors at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: FLII
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: FLII
    OriGene untagged cDNA clones in CMV expression vector: FLII
    OriGene 3'-UTR clone: FLII 
    Browse MicroRNA Expression Plasmids 
    GenScript cDNA clone with any tag delivered in your preferred vector: FLII 
    Browse Sino Biological Human cDNA Clones

    Cell
    Lines:
      
    GenScript Custom overexpressing Cell Line Services for FLII 

    Genatlas biochemistry entry for FLII:
    Drosophila flightless (fli) homolog 1,highly expressed in muscle,overlapping 3'end of LLGL1,constantly deleted in
    Smith-Magenis syndrome (SMCR),member of gelsolin and LRR family

    2 Gene Ontology (GO) molecular function terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779 actin binding IEA--
    GO:0005515 protein binding IPI9671805
    About this table

    FLII for ontologies           About GeneDecksing

    Animal Models: 3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Flii):

    embryogenesishomeostasis/metabolismlethality-prenatal/perinatal

    FLII for phenotypes           About GeneDecksing


    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
    About This Section

        SABiosciences Custom Pathway-Focused PCR Arrays for FLII 

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for FLII

    3 Interacting proteins for FLII (ENSP000003245733 Q130451, 2) via UniProtKB, MINT, and/or STRING
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LRRFIP1Q32MZ41STRING: ENSP00000244815 EBI-351549,EBI-1369100
    GATA1ENSP000003658583STRING: ENSP00000365858
    --Q86TQ82MINT-64113
    About this table

    3 Gene Ontology (GO) biological process terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006936 muscle contraction TAS9177775
    GO:0007275 multicellular organismal development IEA--
    GO:0045449 regulation of transcription IEA--
    About this table

    FLII for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    FLII for compounds           About GeneDecksing

    Browse Small Molecules at Sigma-Aldrich
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for FLII
    1 Novoseek chemical compound relationship for FLII gene
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    atp 7.74 7 11580247 (3), 16780875 (2), 10998179 (1)
    About this table



    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore,
    siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
    About This Section

    Inhib.
    RNA:
         
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich esiRNA and siRNA for FLII
    Sigma-Aldrich shRNA Panels and shRNA for FLII
    OriGene 29mer shRNA kits in GFP-retroviral vector: FLII
    OriGene shRNA RFP: FLII
    OriGene basic RS shRNA: FLII
    OriGene siRNA: FLII
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of FLII 
    miRNA: Browse microRNA Mimics at Sigma-Aldrich
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of FLII 
    1 SABiosciences Assays for microRNA that regulate FLII:
    hsa-miR-889
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: FLII
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: FLII
    OriGene untagged cDNA clones in CMV expression vector: FLII
    OriGene 3'-UTR Clone: FLII 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript cDNA clone with any tag delivered in your preferred vector: FLII 
    Primers: OriGene genome-wide validated SYBR primer pairs: FLII
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for FLII: PPH02032A

    REFSEQ mRNAs for FLII gene: 

    NM_002018.2  

    Additional cDNA sequence: 

    AB208864.1 AK295655.1 AK295814.1 AK297836.1 AK310400.1 BC001582.1 BC017030.2 BC021885.1 
    BC025300.1 U01184.1 

    24/28 DOTS entries (see all 28):

    DT.75169954  DT.95291769  DT.100843196  DT.95355701  DT.100843193  DT.95355238  DT.40117375  DT.100844998 
    DT.95355263  DT.100843188  DT.120997771  DT.100031398  DT.95355372  DT.95355377  DT.100031403  DT.95337867 
    DT.102834873  DT.120997717  DT.120997768  DT.91692009  DT.100843192  DT.95322594  DT.95355241  DT.95355374 

    24/573 AceView cDNA sequences (see all 573):

    BQ959310 AI400101 BE326238 BI824801 CB266971 BU149786 AI376185 BF063924 
    AA310928 BG576609 BE222407 AW000787 BX282359 BF061012 BI793233 BU542167 
    BM553383 CN483878 CD613719 CK429219 CD673662 BQ928494 BQ632289 BE468053 

    highest scoring ESTs for FLII:

    BC017030 BC025300 BE244601 BG716926 BI603669 BM452734 BM455575 BM473960 BM476936 BM559308 

    Unigene Cluster for FLII:

    Flightless I homolog (Drosophila)
    Hs.513984  [show with all ESTs]
    Unigene Representative Sequence: NM_002018


    GeneLoc Exon Structure

    5/16 Alternative Splicing Database (ASD) splice patterns (SP) for FLII (see all 16)

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b · 8c · 8d ^ 9a · 9b · 9c ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                -                                                                                                                           
    SP4:                                                                                                                                                            
    SP5:                                                                                            -     -     -     -     -     -     -     -     -     -     -   

    ExUns: 18a · 18b ^ 19a · 19b ^ 20 ^ 21a · 21b ^ 22 ^ 23 ^ 24a · 24b ^ 25a · 25b · 25c ^ 26a · 26b ^ 27a · 27b · 27c ^ 28 ^ 29a · 29b ^ 30 ^ 31a · 31b ^ 32a ·
    SP1:  -                             -                                                                                                                           
    SP2:                                                                                -                                               -                           
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:  -     -     -                 -                                                                                                                           

    About this scheme

    ECgene alternative splicing isoforms for FLII
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000493401 ENST00000461110(uc010vxp.1) ENST00000379450 ENST00000327031(uc002gsq.1 uc010cpy.1 uc002gsr.1 uc010vxn.1 uc010vxo.1 uc002gss.1)
    ENST00000473425 ENST00000459958 ENST00000487693 ENST00000488221 ENST00000474265
    ENST00000493600 ENST00000476369 ENST00000478416 ENST00000496727 ENST00000465046
    ENST00000487369 ENST00000479175 ENST00000488932

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Primers from OriGene and/or SABiosciences )
    About This Section

    FLII expression in normal and diseased human tissues

    1  / 2  / 3

    9 probe-sets matching FLII gene

    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    33133_at2, 3 U95-A 1 0.94 1.00 0.90 0.95 U80184 0.20 1.00 0.72 1
    88279_s_at2, 3 U95-E 1 0.81 1.00 0.75 1.30 AI978629 0.40 1.00 0.76 1
    88281_s_at2, 3 U95-E 1 0.69 1.00 0.76 0.75 AA255598 0.40 1.00 0.76 1
    222065_s_at2, 3 U133-A 1 1.00 1.00 -- -- AI830227 0.40 1.00 0.76 1
    212025_s_at2, 3 U133-A 1 0.91 1.00 -- -- BG421186 0.40 1.00 0.76 1
    212024_x_at2, 3 U133-A 1 0.73 1.00 -- -- U80184 0.20 1.00 0.72 1
    222065_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    212025_s_at2 U133Plus2 1 0.91 1.00 -- -- -- -- -- -- --
    212024_x_at2 U133Plus2 1 0.73 1.00 -- -- -- -- -- -- --
    About this table

    FLII for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    FLII gene expression
    FLII gene electronic northern expression
    FLII gene sage expression
    About these images

    CGAP SAGE TAG: AGCGGCCGCG

    SOURCE GeneReport for Unigene cluster: Hs.513984

    Expression variation in blood from EXPOLDB for FLII

    UniProtKB/Swiss-Prot: FLII_HUMAN, Q13045
    Tissue specificity: Strongest expression in skeletal muscle with high expression also in the heart and lung

    Primers: OriGene genome-wide validated SYBR primer pairs: FLII
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for FLII: PPH02032A
        SABiosciences Custom PCR Arrays for FLII 


    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section

    Orthologs for FLII gene from 5/9 species (see all 9)
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    chimpanzee
    (Pan troglodytes)
    FLII1   -- flightless I homolog (Drosophila) 99.41(n)
    99.68(a)
    454486  XM_511321.2  XP_511321.2 
    cow
    (Bos taurus)
    FLII1   -- flightless I homolog (Drosophila) 90.87(n)
    95.43(a)
    514446  XM_592304.3  XP_592304.3 
    rat
    (Rattus norvegicus)
    Flii1   -- flightless I homolog (Drosophila) 88.38(n)
    95.27(a)
    287375  NM_001008279.1  NP_001008280.1 
    mouse
    (Mus musculus)
    Flii1 , 5 11 (37.81 cM)5
    flightless I homolog (Drosophila)1, 5 88.57(n)1
    95.27(a)1
    142481  NM_022009.11  NP_071292.11 
     AF1423295  AF2872645  (see all 19)
    chicken
    (Gallus gallus)
    FLII1   -- flightless I homolog (Drosophila) 83.07(n)
    88.11(a)
    416515  NM_001030635.1  NP_001025806.1 
    About this table        Species with no ortholog for FLII

    ENSEMBL Gene Tree for FLII (if available)

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
    Paralogs for FLII gene
    SVIL2  VILL2  AVIL2  GSN2  SCIN2  CAPG2  VIL12  

    FLII for paralogs           About GeneDecksing



    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
    About This Section

    10/93 NCBI SNPs in FLII are shown (see all 93)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 17 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ----------
    rs20712411,2
    C,F,H,18156541(-) CCACCC/TTGTGG 1 -- int114Minor allele frequency- T:0.44EA NS NA WA 1934
    rs20712421,2
    C,F,18154510(-) CCCCAA/GCTCCA 1 -- int112Minor allele frequency- G:0.21EA NS NA WA 2146
    rs24736571,2
    C,A18153301(+) gtggtG/Agcaca 1 -- int15Minor allele frequency- A:0.20NA WA 10
    rs26051301,2
    --18161101(+) AACCTC/GGCTCC 1 -- int10--------
    rs26051391,2
    C18150647(+) GTCCCA/CATTCT 2 G W mis1 ref14Minor allele frequency- C:0.00NS EA 404
    rs26051401,2
    C,A,H18156375(-) gcgaaC/Tctcct 1 -- int13Minor allele frequency- T:0.17NA WA 6
    rs27460251,2
    C,F,A,H,18151611(-) ACCTTG/TGCTCA 1 -- int110Minor allele frequency- T:0.17NS EA NA WA 640
    rs28562881,2
    H18161102(-) AGGAGG/CCAGGT 1 -- int14Minor allele frequency- C:0.00NS EA 414
    rs28562891,2
    C,A,H,18149854(-) GGGGCC/TCAGAC 1 -- int16Minor allele frequency- T:0.00NA WA 14
    rs39156761,2
    --18150899(-) GGCTTC/TACTAC 1 -- int10--------
    About this table

    HapMap Linkage Disequilibrium images for FLII (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for FLII
         1 CNV: 30807
         1 Inversion: 0495

    QIAGEN SeqTarget long-range PCR primers for resequencing FLII 

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    FLII for disorders           About GeneDecksing

    OMIM: 600362

    UniProtKB/Swiss-Prot: FLII_HUMAN, Q13045
  • Deletion of the FLII gene may be a cause of Smith-Magenis syndrome (SMS) [MIM:182290]. It is a contiguous gene
  • deletion syndrome involving developmental abnormalities and mental retardation. The spectrum of clinical findings
    includes short stature, brachydactyly, developmental delay, dysmorphic features, sleep disturbances, and behavioral
    problems

    2 Novoseek disease relationships for FLII gene

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ewings sarcoma 51.2 2 10523836 (1), 11313995 (1)
    tumors 0 2 9177775 (1), 17409396 (1)
    About this table

    Human Genome Epidemiology (HuGE) Navigator: FLII (2 documents)

    Export disorders and mutations for FLII gene to outside databases

    (Possibly Related Articles in Doctor's Guide)
    About This Section
      --

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6UniProtKB/TrEMBL, and/or 7Novoseek)
    About This Section

    10/60 PubMed articles for FLII gene, integrated from 7 sources (see all 60):
    (articles sorted by number of sources associating them with FLII)
    1. Identification of the binding partners for flightless I, a novel protein bridging the leucine-rich repeat and the gelsolin superfamilies. (PubMed id 9525888)1, 2, 7 Liu Y.-T. and Yin H.L. (1998)
    2. Genomic structure, evolution, and expression of human FLII, a gelsolin and leucine-rich-repeat family member: overlap with LLGL. (PubMed id 9177775)1, 2, 7 Campbell H.D.... Lupski J.R. (1997)
    3. The human homologue of the Drosophila melanogaster flightless-I gene (flil) maps within the Smith-Magenis microdeletion critical region in 17p11.2. (PubMed id 7825574)1, 3, 7 Chen K.S....Lupski J.R. (1995)
    4. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (2006)
    5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    6. Developmentally essential protein flightless I is a nuclear receptor coactivator with actin binding activity. (PubMed id 14966289)1, 2 Lee Y.-H.... Stallcup M.R. (2004)
    7. 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)
    8. Large-scale characterization of HeLa cell nuclear phosphoproteins. (PubMed id 15302935)1, 2 Beausoleil S.A....Gygi S.P. (2004)
    9. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)1, 2 Gevaert K.... Vandekerckhove J. (2003)
    10. Novel proteins interacting with the leucine-rich repeat domain of human flightless-I identified by the yeast two-hybrid system. (PubMed id 10366446)1, 2 Fong K.S.K. and de Couet H.G. (1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2314 HGNC: 3750 AceView: FLII Ensembl:ENSG00000177731 euGenes: HUgn2314
    ECgene: FLII H-InvDB: FLII

    (According to HUGE)
    About This Section
      --

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

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
    About This Section
    Patent Information for FLII gene:
    Search GeneIP for patents involving FLII

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



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    GeneCards Homepage - Last full update: 31 Dec 2010 - Incremental updates: 9 Jan 2011 , 10 Jan 2011

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