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Aliases for FLII Gene

Aliases for FLII Gene

  • FLII, Actin Remodeling Protein 2 3 5
  • Flightless I Actin Binding Protein 2 3
  • FLIL 3 4
  • Flightless I (Drosophila) Homolog 2
  • Flightless I Homolog (Drosophila) 2
  • Protein Flightless-1 Homolog 3
  • Flightless I Homolog 3
  • Fli1 3
  • FLI 3

External Ids for FLII Gene

Previous GeneCards Identifiers for FLII Gene

  • GC17M018393
  • GC17M019740
  • GC17M018091
  • GC17M018348
  • GC17M018088
  • GC17M017901
  • GC17M018148

Summaries for FLII Gene

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 (FLII, Actin Remodeling Protein) is a Protein Coding gene. Diseases associated with FLII include Smith-Magenis Syndrome and Ewing Sarcoma. Among its related pathways are Cytoskeletal Signaling. Gene Ontology (GO) annotations related to this gene include actin binding. An important paralog of this gene is SVIL.

UniProtKB/Swiss-Prot for FLII Gene

  • 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

Additional gene information for FLII Gene

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

Genomics for FLII Gene

GeneHancer (GH) Regulatory Elements for FLII Gene

Promoters and enhancers for FLII Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J018256 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 650.7 -0.6 -610 6.3 HDGF PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF207 MIEF2 FLII SHMT1 LLGL1 SMCR8 FOXO3B ENSG00000264885 ENSG00000262202 DRG2 MYO15A
GH17J018313 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 33.5 -56.8 -56834 5.2 HDGF PKNOX1 CLOCK ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 E2F8 SMCR8 TOP3A DRG2 FLII SHMT1 FOXO3B ENSG00000262202 ENSG00000264885 TVP23B CCDC144B
GH17J017970 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 14.4 +286.9 286853 3.1 HDGF PKNOX1 FOXA2 ARID4B NEUROD1 SIN3A DMAP1 ZBTB7B YY1 SLC30A9 TOM1L2 DRC3 SMCR8 FOXO3B FLII ZNF286B USP32P2 SMCR5 MPRIP RAI1
GH17J017302 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE 12.9 +954.5 954536 3.7 PKNOX1 ATF1 ARNT ARID4B SIN3A DMAP1 ZNF2 TCF12 POLR2B ZNF766 NT5M DRG2 FLII LOC644422 FLCN COPS3 PLD6 GC17M017313
GH17J017476 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 12.9 +781.2 781182 2.7 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF207 KLF13 SP3 ZHX2 GC17P017477 MED9 SMCR8 DRG2 FLII LOC644422 TOP3A MYO15A GC17P017485
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FLII on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FLII gene promoter:
  • Evi-1
  • HEN1
  • USF-1
  • USF1
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c
  • Msx-1
  • RP58
  • p53

Genomic Locations for FLII Gene

Genomic Locations for FLII Gene
chr17:18,244,815-18,258,916
(GRCh38/hg38)
Size:
14,102 bases
Orientation:
Minus strand
chr17:18,148,150-18,162,230
(GRCh37/hg19)
Size:
14,081 bases
Orientation:
Minus strand

Genomic View for FLII Gene

Genes around FLII on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for FLII Gene

Proteins for FLII Gene

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

    Protein Symbol:
    Q13045-FLII_HUMAN
    Recommended name:
    Protein flightless-1 homolog
    Protein Accession:
    Q13045
    Secondary Accessions:
    • B4DIL0
    • F5H407
    • J3QLG3

    Protein attributes for FLII Gene

    Size:
    1269 amino acids
    Molecular mass:
    144751 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=BAG58522.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for FLII Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FLII Gene

Post-translational modifications for FLII Gene

  • Ubiquitination at isoforms=2, 31162, isoforms=2, 31035, Lys1029, Lys836, isoforms=2, 3832, isoforms=2, 3802, Lys746, isoforms=2, 3730, and Lys21
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for FLII Gene

Domains & Families for FLII Gene

Gene Families for FLII Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for FLII Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

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

Function for FLII Gene

Molecular function for FLII Gene

UniProtKB/Swiss-Prot 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:
Drosophila flightless (fli) homolog 1,highly expressed in muscle,overlapping 3end of LLGL1,constantly deleted in Smith-Magenis syndrome (SMCR),member of gelsolin and LRR family

Gene Ontology (GO) - Molecular Function for FLII Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IDA 9525888
GO:0005515 protein binding IEA,IPI 9671805
GO:0051015 actin filament binding IEA --
genes like me logo Genes that share ontologies with FLII: view
genes like me logo Genes that share phenotypes with FLII: view

Human Phenotype Ontology for FLII Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FLII Gene

MGI Knock Outs for FLII:
  • Flii Flii<tm1Hdc>
  • Flii Flii<tm1b(KOMP)Mbp>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FLII

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for FLII Gene

Localization for FLII Gene

Subcellular locations from UniProtKB/Swiss-Prot for FLII Gene

Nucleus. Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cell junction, focal adhesion. Note=Colocalizes to actin-rich structures in blastocysts and, together with HRAS, RHOA and CDC42, in migrating fibroblasts. Localizes to centrosomes (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FLII gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 5
plasma membrane 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Microtubule organizing center (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FLII Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005815 microtubule organizing center IDA,IEA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with FLII: view

Pathways & Interactions for FLII Gene

SuperPathway Contained pathways
1 Cytoskeletal Signaling
genes like me logo Genes that share pathways with FLII: view

Pathways by source for FLII Gene

1 Cell Signaling Technology pathway for FLII Gene

SIGNOR curated interactions for FLII Gene

Is activated by:

Gene Ontology (GO) - Biological Process for FLII Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007275 multicellular organism development IEA --
GO:0030036 actin cytoskeleton organization IEA --
GO:0051014 actin filament severing IEA --
genes like me logo Genes that share ontologies with FLII: view

Drugs & Compounds for FLII Gene

(1) Drugs for FLII Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with FLII: view

Transcripts for FLII Gene

Unigene Clusters for FLII Gene

Flightless I homolog (Drosophila):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FLII

Clone Products

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

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: - - - - - - - - - - -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:

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: - - - -
SP6: -
SP7: -
SP8:
SP9:
SP10:
SP11:
SP12: -
SP13:
SP14:
SP15: - -
SP16:

Relevant External Links for FLII Gene

GeneLoc Exon Structure for
FLII
ECgene alternative splicing isoforms for
FLII

Expression for FLII Gene

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

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

This gene is overexpressed in Muscle - Skeletal (x4.5).

Protein differential expression in normal tissues from HIPED for FLII Gene

This gene is overexpressed in Peripheral blood mononuclear cells (19.9).

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



Protein tissue co-expression partners for FLII Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FLII Gene:

FLII

SOURCE GeneReport for Unigene cluster for FLII Gene:

Hs.513984

mRNA Expression by UniProt/SwissProt for FLII Gene:

Q13045-FLII_HUMAN
Tissue specificity: Strongest expression in skeletal muscle with high expression also in the heart and lung.

Evidence on tissue expression from TISSUES for FLII Gene

  • Nervous system(4.9)
  • Muscle(4.6)
  • Kidney(4.5)
  • Liver(4.5)
  • Blood(4.4)
  • Lung(4.2)
  • Intestine(3.1)
  • Skin(2.5)
  • Eye(2.2)
  • Heart(2.2)
  • Pancreas(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FLII Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • bronchus
  • heart
  • lung
  • rib
  • rib cage
  • trachea
Abdomen:
  • duodenum
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
Pelvis:
  • pelvis
  • rectum
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with FLII: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for FLII Gene

Orthologs for FLII Gene

This gene was present in the common ancestor of animals.

Orthologs for FLII Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FLII 34 33
  • 99.19 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FLII 34 33
  • 90.95 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FLII 34 33
  • 90.46 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Flii 16 34 33
  • 88.47 (n)
rat
(Rattus norvegicus)
Mammalia Flii 33
  • 88.2 (n)
oppossum
(Monodelphis domestica)
Mammalia FLII 34
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FLII 34
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves FLII 34 33
  • 82.9 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FLII 34
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia flii 33
  • 76.81 (n)
zebrafish
(Danio rerio)
Actinopterygii flii 34 33
  • 73.95 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011292 33
  • 62.76 (n)
fruit fly
(Drosophila melanogaster)
Insecta fliI 34 35 33
  • 62.06 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea fli-1 34 33
  • 51.63 (n)
OneToOne
sup-5 35
  • 49 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10255 34
  • 61 (a)
OneToOne
Species where no ortholog for FLII was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FLII Gene

ENSEMBL:
Gene Tree for FLII (if available)
TreeFam:
Gene Tree for FLII (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FLII: view image

Paralogs for FLII Gene

Paralogs for FLII Gene

(15) SIMAP similar genes for FLII Gene using alignment to 11 proteins:

  • FLII_HUMAN
  • J3KS39_HUMAN
  • J3KS54_HUMAN
  • J3KT47_HUMAN
  • J3QLR6_HUMAN
  • J3QQQ2_HUMAN
  • J3QQU5_HUMAN
  • K7EJJ7_HUMAN
  • K7EP27_HUMAN
  • K7EP37_HUMAN
  • K7EQZ7_HUMAN
genes like me logo Genes that share paralogs with FLII: view

Variants for FLII Gene

Sequence variations from dbSNP and Humsavar for FLII Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000243591 -- 18,251,327(-) C/T coding_sequence_variant, missense_variant
rs1000278019 -- 18,257,629(-) C/A/T intron_variant
rs1000330961 -- 18,257,366(-) C/G intron_variant
rs1000493434 -- 18,257,425(-) T/G intron_variant
rs1000537794 -- 18,246,515(-) G/A intron_variant

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

Variant ID Type Subtype PubMed ID
nsv155 OTHER inversion 15895083
nsv499114 OTHER inversion 21111241
nsv9503 CNV gain 18304495

Variation tolerance for FLII Gene

Residual Variation Intolerance Score: 8.92% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.88; 59.03% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FLII Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FLII

SNP Genotyping and Copy Number Assay Products

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

Disorders for FLII Gene

MalaCards: The human disease database

(3) MalaCards diseases for FLII Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
smith-magenis syndrome
  • sms
ewing sarcoma
  • es
bejel
  • njovera
- elite association - COSMIC cancer census association via MalaCards
Search FLII in MalaCards View complete list of genes associated with diseases

Additional Disease Information for FLII

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

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

Publications for FLII Gene

  1. Identification of Flightless-I as a substrate of the cytokine-independent survival kinase CISK. (PMID: 19293151) Xu J … Songyang Z (The Journal of biological chemistry 2009) 3 4 22 58
  2. Identification of the binding partners for flightless I, A novel protein bridging the leucine-rich repeat and the gelsolin superfamilies. (PMID: 9525888) Liu YT … Yin HL (The Journal of biological chemistry 1998) 3 4 22 58
  3. Genomic structure, evolution, and expression of human FLII, a gelsolin and leucine-rich-repeat family member: overlap with LLGL. (PMID: 9177775) Campbell HD … Lupski JR (Genomics 1997) 3 4 22 58
  4. The human homologue of the Drosophila melanogaster flightless-I gene (flil) maps within the Smith-Magenis microdeletion critical region in 17p11.2. (PMID: 7825574) Chen KS … Lupski JR (American journal of human genetics 1995) 2 3 22 58
  5. Flightless I is a key regulator of the fibroproliferative process in hypertrophic scarring and a target for a novel antiscarring therapy. (PMID: 26521845) Cameron AM … Cowin AJ (The British journal of dermatology 2016) 2 3 58

Products for FLII Gene

Sources for FLII Gene

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