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FLII Gene

protein-coding   GIFtS: 61
GCID: GC17M018148

Flightless I Homolog (Drosophila)

(Previous name: flightless I (Drosophila) homolog)
  See FLII-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
Flightless I Homolog (Drosophila)1 2
FLIL2 3
Flightless I (Drosophila) Homolog1
FLI2
Fli12
Protein Flightless-1 Homolog2

External Ids:    HGNC: 37501   Entrez Gene: 23142   Ensembl: ENSG000001777317   OMIM: 6003625   UniProtKB: Q130453   

Export aliases for FLII gene to outside databases

Previous GC identifers: GC17M018393 GC17M019740 GC17M018091 GC17M018348 GC17M018088 GC17M017901


(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 FLII Gene:
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, Jul 2008)

GeneCards Summary for FLII Gene:
FLII (flightless I homolog (Drosophila)) is a protein-coding gene. Diseases associated with FLII include smith magenis syndrome. GO annotations related to this gene include actin binding. An important paralog of this gene is SVIL.

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, by inhibiting Rac1-dependent paxillin phosphorylation

Gene Wiki entry for FLII Gene


(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 at NCBI GenBank:
NC_000017.10  NT_010718.17  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the FLII gene promoter:
         RP58   USF1   p53   SREBP-1c   SREBP-1b   Evi-1   HEN1   SREBP-1a   USF-1   Msx-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFLII promoter sequence
   Search Chromatin IP Primers for FLII

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat 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 information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M018148:  view genomic region     (about GC identifiers)

Start:
18,148,150 bp from pter      End:
18,162,230 bp from pter
Size:
14,081 bases      Orientation:
minus 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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 and MYD88. Interacts with LRRFIP1 and LRRFIP2. Upon LPS
stimulation, LRRFIP2 competes for MYD88-binding. LRRFIP1 constitutively blocks the interaction with MyD88, even
in the absence of LPS. Interacts with the nuclear receptors ESR1 and THRB. Interacts with SGK3
Sequence caution: Sequence=BAG58522.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: B4DIL0 F5H407 J3QLG3
Alternative splicing: 3 isoforms:  Q13045-1   Q13045-2   Q13045-3   (No experimental confirmation available)

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

Explore proteomics data for FLII at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys21, Lys730, Lys746, Lys802, Lys832, Lys836, Lys1029, Lys1035, Lys1162
  • Modification sites at PhosphoSitePlus

  • See FLII Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001243193.1  NP_001243194.1  NP_002009.1  

    ENSEMBL proteins: 
     ENSP00000465202   ENSP00000468045   ENSP00000462314   ENSP00000324573   ENSP00000438536  
     ENSP00000462293   ENSP00000463534   ENSP00000463675   ENSP00000463838   ENSP00000463902  
     ENSP00000462797   ENSP00000467199   ENSP00000467212   ENSP00000368763  

    FLII Human Recombinant Protein Products:

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    Novus Biologicals FLII Lysate
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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for FLII

     
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    antibodies-online peptides for FLII

    FLII Antibody Products:

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    antibodies-online antibodies for FLII (28 products) 

    FLII Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for FLII
    Cloud-Clone Corp. CLIAs for FLII
    Search eBioscience for ELISAs for FLII 
    antibodies-online kits for FLII (6 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR001611 Leu-rich_rpt
     IPR025875 Leu-rich_rpt_4
     IPR007122 Villin/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 domains:
    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


    Find genes that share domains with FLII           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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, by inhibiting Rac1-dependent paxillin phosphorylation

         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

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0005515protein binding IPI10366446
         
    Find genes that share ontologies with FLII           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for FLII:
     Decreased p24 protein expressi 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Flii):
     embryogenesis  homeostasis/metabolism  mortality/aging 

    Find genes that share phenotypes with FLII           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Fliitm1Hdc for FLII

       genOway: Develop your customized and physiologically relevant rodent model for FLII

    miRNA
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    miRTarBase miRNAs that target FLII:
    hsa-mir-331-3p (MIRT043515), hsa-mir-124-3p (MIRT022789), hsa-mir-484 (MIRT041743), hsa-mir-96-5p (MIRT048726), hsa-mir-423-3p (MIRT042489), hsa-let-7b-5p (MIRT052017)

    Block miRNA regulation of human, mouse, rat FLII using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate FLII:
    hsa-miR-3675-3p hsa-miR-889 hsa-miR-3647-3p
    SwitchGear 3'UTR luciferase reporter plasmidFLII 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat FLII

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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FLII

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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
    FLII_HUMAN, Q13045: Nucleus (By similarity). Cytoplasm, cytoskeleton (By similarity). Cytoplasm, cytoskeleton,
    microtubule organizing center, centrosome (By similarity). Cell junction, focal adhesion (By similarity).
    Note=Colocalizes to actin-rich structures in blastocysts and, together with HRAS, RHOA and CDC42, in migrating
    fibroblasts. Localizes to centrosomes (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton4
    cytosol4
    nucleus4
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005813centrosome ----
    GO:0005815microtubule organizing center IDA--

    Find genes that share ontologies with FLII           About GenesLikeMe


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

        GeneGlobe Interaction Network for FLII

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for FLII (Q130451, 2, 3 ENSP000003245734) via UniProtKB, MINT, STRING, and/or I2D (see all 34)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LRRFIP1Q32MZ41, 3, ENSP000003758574EBI-351549,EBI-1369100 I2D: score=3 STRING: ENSP00000375857
    LRRFIP2Q9Y6083, ENSP000003387274I2D: score=3 STRING: ENSP00000338727
    ACTBP607093, ENSP000003499604I2D: score=1 STRING: ENSP00000349960
    CAMK2DQ135573, ENSP000003397404I2D: score=1 STRING: ENSP00000339740
    ACTL6AO960193, ENSP000003975524I2D: score=2 STRING: ENSP00000397552
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated IEA--
    GO:0006936muscle contraction TAS9177775
    GO:0007275multicellular organismal development IEA--

    Find genes that share ontologies with FLII           About GenesLikeMe



    (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 Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for FLII

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



    Find genes that share compounds with FLII           About GenesLikeMe



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for FLII gene (3 alternative transcripts): 
    NM_001256264.1  NM_001256265.1  NM_002018.3  

    Unigene Cluster for FLII:

    Flightless I homolog (Drosophila)
    Hs.513984  [show with all ESTs]
    Unigene Representative Sequence: NM_002018
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 30):
    ENST00000581858 ENST00000577398 ENST00000578558 ENST00000327031(uc002gsq.1 uc002gsr.1 uc010vxn.1 uc010vxo.1 uc002gss.1)
    ENST00000545457 ENST00000578101 ENST00000579294 ENST00000465046 ENST00000493600
    ENST00000487693 ENST00000487369 ENST00000474265 ENST00000577485 ENST00000493401
    ENST00000580966 ENST00000580453 ENST00000459958 ENST00000577402
    miRNA
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    Block miRNA regulation of human, mouse, rat FLII using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate FLII:
    hsa-miR-3675-3p hsa-miR-889 hsa-miR-3647-3p
    SwitchGear 3'UTR luciferase reporter plasmidFLII 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat FLII
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FLII
      QuantiTect SYBR Green Assays in human, mouse, rat FLII
      QuantiFast Probe-based Assays in human, mouse, rat FLII

    Additional mRNA sequence: 

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

    Selected 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 

    Selected AceView cDNA sequences (see all 573):

    AI813307 BU429750 BF975305 BM764063 AA310928 CA447964 BE468053 BC025300 
    BC001582 BP377230 BU167100 BQ928494 AW770686 AI271776 BE244601 CA306549 
    AI142936 BM818510 BX416980 AL040281 CN483878 AI081472 BQ937264 BG576609 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for FLII (see all 16)    About this scheme

    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:  -     -     -                 -                                                                                                                           


    ECgene alternative splicing isoforms for FLII

    (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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    FLII expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGCGGCCGCG
    FLII Expression
    About this image


    FLII expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 20) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Ovary (Reproductive System)
             Oviduct
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
    FLII Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FLII Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.513984

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

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FLII

    (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 animals.

    Orthologs for FLII gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Flii1 , 5 flightless I homolog (Drosophila)1, 5 88.47(n)1
    95.11(a)1
      11 (37.81 cM)5
    142481  NM_022009.11  NP_071292.11 
     607141235 
    chicken
    (Gallus gallus)
    Aves FLII1 flightless I homolog (Drosophila) 82.9(n)
    87.75(a)
      416515  NM_001030635.1  NP_001025806.1 
    lizard
    (Anolis carolinensis)
    Reptilia FLII6
    flightless I homolog (Drosophila)
    86(a)
    1 ↔ 1
    GL343618.1(132672-165850)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia flii1 flightless 1 homolog 76.81(n)
    83.16(a)
      548565  NM_001015848.1  NP_001015848.1 
    zebrafish
    (Danio rerio)
    Actinopterygii flii1 flightless I homolog (Drosophila) 73.95(n)
    83.48(a)
      560281  NM_001257146.1  NP_001244075.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta fliI1 , 3 actin binding3
    flightless I1
    56(a)3
    62.06(n)1
    57.84(a)1
      19F53
    331101  NM_080358.21  NP_525097.11 
    worm
    (Caenorhabditis elegans)
    Secernentea sup-53
    fli-11
    fli-11 49(a)3
    51.63(n)1
    51.96(a)1
      III(8747816-8755414)3
    1762151  NM_066512.51  NP_498913.21 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FLII gene
    SVIL2  VILL2  AVIL2  SCIN2  GSN2  CAPG2  VIL12  
    15 SIMAP similar genes for FLII using alignment to 11 protein entries:     FLII_HUMAN (see all proteins):
    LRIG3(NM_001136051)-ROS1    LRIG3(NM_153377)-ROS1    AVIL    GSN    LRRC8B    LRRC57
    VIL1    RSU1    PHLPP1    LRRD1    LRRC28    SCIN
    CAPG    PODNL1    TLR10

    Find genes that share paralogs with FLII           About GenesLikeMe



    (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 FLII (see all 581)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs797605981,2
    C--17901304(+) GGCAGG/TGGGGG 3 -- ds50010--------
    rs776293451,2
    C--17906419(-) ATGAGC/TCACCG 3 -- int11Minor allele frequency- T:0.00NA 2
    rs1382716451,2
    C--18135714(+) GTTCCC/TGCCAT 3 -- ds50010--------
    rs1139780841,2
    C,F--18135737(+) GCCTCC/ACAAGT 3 -- ds50011Minor allele frequency- A:0.50NA 2
    rs1868491991,2
    --18135873(+) GCCTCC/TCAAAG 3 -- ds50010--------
    rs1914760141,2
    --18135892(+) TTACAA/GGCGTG 3 -- ds50010--------
    rs1824639901,2
    --18135895(+) CAGGCA/GTGAGC 3 -- ds50010--------
    rs1879884011,2
    --18135904(+) GCCACC/TATGCC 3 -- ds50010--------
    rs1150652541,2
    C,F--18135954(+) CAGTTG/ATTTCT 3 -- ds50011Minor allele frequency- A:0.09WA 118
    rs745954951,2
    C--18136091(+) GTGTCC/TGGCGG 3 -- ds50010--------

    HapMap Linkage Disequilibrium report for FLII (18148150 - 18162230 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for FLII:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv907777CNV Loss21882294
    nsv907776CNV Loss21882294
    dgv3078n71CNV Loss21882294
    nsv9503CNV Gain18304495
    nsv155OTHER Inversion15895083
    nsv499114OTHER Inversion21111241

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FLII
    DNA2.0 Custom Variant and Variant Library Synthesis for FLII

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600362    OMIM disorders: --

    1 disease for FLII:    
    About MalaCards
    smith magenis syndrome

    2 diseases from the University of Copenhagen DISEASES database for FLII:
    Adamantinoma     Peripheral primitive neuroectodermal tumor

    Find genes that share disorders with FLII           About GenesLikeMe

    2 Novoseek inferred disease relationships for FLII gene    About this table

    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)

    Genetic Association Database (GAD): FLII
    Human Genome Epidemiology (HuGE) Navigator: FLII (4 documents)

    Export disorders for FLII 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 FLII gene, integrated from 10 sources (see all 83):
    (articles sorted by number of sources associating them with FLII)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of Flightless-I as a substrate of the cytokine- independent survival kinase CISK. (PubMed id 19293151)1, 2, 9 Xu J.... Songyang Z. (J. Biol. Chem. 2009)
    2. 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, 9 Liu Y.-T. and Yin H.L. (J. Biol. Chem. 1998)
    3. Genomic structure, evolution, and expression of human FLII, a gelsolin and leucine-rich-repeat family member: overlap with LLGL. (PubMed id 9177775)1, 2, 9 Campbell H.D.... Lupski J.R. (Genomics 1997)
    4. 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, 9 Chen K.S....Lupski J.R. (Am. J. Hum. Genet. 1995)
    5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    6. Modulation of TLR signaling by multiple MyD88-interacting partners including leucine-rich repeat Fli-I-interacting proteins. (PubMed id 19265123)1, 2 Dai P.... Chen X. (J. Immunol. 2009)
    7. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (Nat. Biotechnol. 2006)
    8. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    9. 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. (Mol. Cell. Biol. 2004)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 2314 HGNC: 3750 AceView: FLII Ensembl:ENSG00000177731 euGenes: HUgn2314
    ECgene: FLII H-InvDB: FLII

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for FLII Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    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



    (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, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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 genOway)
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