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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

FMN1 Gene

protein-coding   GIFtS: 53
GCID: GC15M033059

Formin 1

(Previous name: formin (limb deformity))
(Previous symbols: LD, FMN)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Formin 11 2     Limb Deformity Protein Homolog2 3
FMN1 2 3 5     Limb Deformity Protein1
LD1 2 3 5     formin-12
Formin (Limb Deformity)1 2     

External Ids:    HGNC: 37681   Entrez Gene: 3421842   Ensembl: ENSG000002489057   OMIM: 1365355   UniProtKB: Q68DA73   

Export aliases for FMN1 gene to outside databases

Previous GC identifers: GC15M030854 GC15M033066 GC15M009919


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

GeneCards Summary for FMN1 Gene: 
FMN1 (formin 1) is a protein-coding gene. Diseases associated with FMN1 include sarcomatosis, and renal hypoplasia, and among its related super-pathways are Cell adhesion Cadherin-mediated cell adhesion. GO annotations related to this gene include actin binding and SH3 domain binding. An important paralog of this gene is DAAM1.

UniProtKB/Swiss-Prot: FMN1_HUMAN, Q68DA7
Function: Plays a role in the formation of adherens junction and the polymerization of linear actin cables (By
similarity)




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NC_018926.2  NT_010194.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FMN1 gene promoter:
         TBP   AP-1   TFIID   STAT3   c-Jun   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for FMN1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FMN1


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

Entrez Gene cytogenetic band: 15q13.3   Ensembl cytogenetic band:  15q13.3   HGNC cytogenetic band: 15q13.3

FMN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FMN1 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M033059:  view genomic region     (about GC identifiers)

Start:
33,057,747 bp from pter      End:
33,486,897 bp from pter
Size:
429,151 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: FMN1_HUMAN, Q68DA7 (See protein sequence)
Recommended Name: Formin-1  
Size: 1419 amino acids; 157578 Da
Subunit: Interacts with alpha-catenin and may interact with tubulin (By similarity)
Subcellular location: Nucleus (By similarity). Cytoplasm (By similarity). Cell junction, adherens junction (By
similarity). Cell membrane; Peripheral membrane protein; Cytoplasmic side (By similarity). Note=Localization to
the adherens junctions is alpha-catenin-dependent. Also localizes to F-actin bundles originating from adherens
junctions and to microtubules (By similarity)
Developmental stage: Expressed in fetal kidney and fetal lung
Secondary accessions: Q3B7I6 Q3ZAR4 Q6ZSY1
Alternative splicing: 4 isoforms:  Q68DA7-1   Q68DA7-2   Q68DA7-3   Q68DA7-5   (Ref.3 (AAI03693/AAI07594) sequences are in conflict in position: 171:G->V. Ref.3 (AAI07594) sequence is in conflict in position: 239:G->E)

Explore the universe of human proteins at neXtProt for FMN1: NX_Q68DA7

Explore proteomics data for FMN1 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated on serine and possibly threonine residues (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q68DA7

  • FMN1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FMN1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001096654.1  NP_001264242.1  NP_001264243.1  

    ENSEMBL proteins: 
     ENSP00000333950   ENSP00000453443   ENSP00000454047   ENSP00000453110   ENSP00000453266  
     ENSP00000453682   ENSP00000452984   ENSP00000325166  

    Human Recombinant Protein Products for FMN1: 
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    Novus Biologicals FMN1 Proteins
    Novus Biologicals FMN1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for FMN1 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IEA--
    GO:0005884actin filament IEA--
    GO:0005886plasma membrane IEA--
    GO:0005912adherens junction IEA--

    FMN1 for ontologies           About GeneDecksing



    FMN1 Antibody Products: 
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    Abcam antibodies for FMN1
    Cloud-Clone Corp. Antibodies for FMN1 
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    Search LSBio for Antibodies for FMN1 

    Assay Products for FMN1: 
    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for FMN1 
    Cloud-Clone Corp. CLIAs for FMN1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR015425 FH2_actin-bd
     IPR003104 Actin-bd_FH2/DRF_autoreg
     IPR001265 Formin

    Graphical View of Domain Structure for InterPro Entry Q68DA7

    ProtoNet protein and cluster: Q68DA7

    UniProtKB/Swiss-Prot: FMN1_HUMAN, Q68DA7
    Similarity: Belongs to the formin homology family. Cappuccino subfamily
    Similarity: Contains 1 FH1 (formin homology 1) domain
    Similarity: Contains 1 FH2 (formin homology 2) domain


    FMN1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FMN1_HUMAN, Q68DA7
    Function: Plays a role in the formation of adherens junction and the polymerization of linear actin cables (By
    similarity)

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003779actin binding IEA--
    GO:0005515protein binding ----
    GO:0017124SH3 domain binding IEA--
         
    FMN1 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for FMN1:
     Big cells  Increased focal adhesion (FA)   Stronger migration  Synthetic lethal with Ras 

         10 MGI mutant phenotypes (inferred from 12 alleles(MGI details for Fmn1):
     cellular  integument  limbs/digits/tail  mortality/aging  no phenotypic analysis 
     normal  pigmentation  renal/urinary system  reproductive system  skeleton 

    FMN1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for FMN1: Fmn1tm1.1Zlr Fmn1tm1Zlr Fmn1tm2Led Fmn1tm1Led Fmn1tm1Awb

       inGenious Targeting Laboratory - Custom generated mouse model solutions for FMN1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for FMN1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FMN1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for FMN1 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FMN1
    8/58 QIAGEN miScript miRNA Assays for microRNAs that regulate FMN1 (see all 58):
    hsa-miR-579 hsa-miR-218-1* hsa-miR-29a hsa-miR-3167 hsa-miR-3613-3p hsa-miR-3116 hsa-miR-330-3p hsa-miR-4326
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Clone
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                         Customized lentivirus expression plasmids for stable overexpression of FMN1 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FMN1


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for FMN1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Cell adhesion Cadherin-mediated cell adhesion
    Cell adhesion Cadherin-mediated cell adhesion1.00
    2E-cadherin signaling in keratinocytes
    E-cadherin signaling in keratinocytes

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for FMN1
        Cell adhesion Cadherin-mediated cell adhesion


    1 GeneGo (Thomson Reuters) Pathway for FMN1
        Cell adhesion Cadherin-mediated cell adhesion

    1 BioSystems Pathway for FMN1
        E-cadherin signaling in keratinocytes



    FMN1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for FMN1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    5/12 Interacting proteins for FMN1 (Q68DA73 ENSP000003339504) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FNBP4Q8N3X13, ENSP000002637734I2D: score=1 STRING: ENSP00000263773
    PRPF40AO754003I2D: score=2 
    FNBP1Q96RU33I2D: score=1 
    SRGAP2O750443I2D: score=1 
    CTNNA1ENSP000003046694STRING: ENSP00000304669
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0010467gene expression IEA--
    GO:0030036actin cytoskeleton organization ----
    GO:0030838positive regulation of actin filament polymerization ----
    GO:0035136forelimb morphogenesis IEA--
    GO:0035137hindlimb morphogenesis IEA--

    FMN1 for ontologies           About GeneDecksing



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

    FMN1 for compounds           About GeneDecksing

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

    Browse Tocris compounds for FMN1

    9 Novoseek inferred chemical compound relationships for FMN1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mdi-a 95 9 19457867 (2), 17855386 (1), 18239683 (1), 16361707 (1) (see all 8)
    spir 62.9 3 19605360 (1), 16901698 (1), 15053972 (1)
    actomyosin 52.9 1 16487696 (1)
    atp 6.63 4 20192778 (1), 16483928 (1), 17210567 (1), 15507212 (1)
    proline 4.84 3 11171383 (1), 17915251 (1), 10600384 (1)
    gtp 4.46 1 14992721 (1)
    tyrosine 0 1 12577064 (1)
    adp 0 1 17210567 (1)
    glutamate 0 1 16168524 (1)

    Search CenterWatch for drugs/clinical trials and news about FMN1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for FMN1 gene (4 alternative transcripts): 
    NM_198500.1  NM_001103184.3  NM_001277313.1  NM_001277314.1  

    Unigene Cluster for FMN1:

    Formin 1
    Hs.657649  [show with all ESTs]
    Unigene Representative Sequence: NM_001103184
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000334528(uc001zhf.4) ENST00000561249 ENST00000559047 ENST00000558882
    ENST00000559610 ENST00000560317 ENST00000558711 ENST00000558628 ENST00000558197(uc001zhg.2)
    ENST00000559150 ENST00000320930(uc001zhh.3)
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FMN1
    8/58 QIAGEN miScript miRNA Assays for microRNAs that regulate FMN1 (see all 58):
    hsa-miR-579 hsa-miR-218-1* hsa-miR-29a hsa-miR-3167 hsa-miR-3613-3p hsa-miR-3116 hsa-miR-330-3p hsa-miR-4326
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for FMN1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FMN1
    Clone
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    OriGene clones in human, mouse for FMN1 (see all 7)
    OriGene ORF clones in mouse, rat for FMN1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: FMN1 (NM_001103184)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FMN1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FMN1
    Sirion Biotech Customized lentivirus for stable overexpression of FMN1 
                         Customized lentivirus expression plasmids for stable overexpression of FMN1 
    Primer
    Products:
        
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    SABiosciences RT2 qPCR Primer Assay in human, mouse / rat FMN1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FMN1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FMN1

    Additional mRNA sequence: 

    AL833157.1 BC029107.1 BC101971.1 BC103692.1 BC107593.1 CR749487.1 CR749577.1 

    10 DOTS entries:

    DT.444055  DT.99949032  DT.92417266  DT.97779785  DT.121081216  DT.95157338  DT.99993739  DT.121081262 
    DT.104668  DT.75125874 

    24/88 AceView cDNA sequences (see all 88):

    BX280375 BM803128 AA480003 BM459001 CA430953 BX105237 BX281011 BU629502 
    BE275521 CA429949 N44866 CA423887 CB134345 CA430142 BC029107 BM474195 
    BM806611 AL833157 BE891057 AA905616 BE300783 AI417633 N42821 BU632857 

    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

    FMN1 expression in normal human tissues (normalized intensities)      FMN1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTTTCAATT
    FMN1 Expression
    About this image


    FMN1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/1 selected tissues (see all 1) fully expand
     
     Eye (Sensory Organs)
             Type1 Off Cone Bipolar Cells Inner Nuclear Layer

    See FMN1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FMN1

    SOURCE GeneReport for Unigene cluster: Hs.657649
        SABiosciences Custom PCR Arrays for FMN1
    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FMN1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FMN1

    (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 animals.

    Orthologs for FMN1 gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fmn15 formin 1   --   2 (57.30 cM) 113327771 
    chicken
    (Gallus gallus)
    Aves FMN11 formin 1 65.95(n)
    62.94(a)
      386747  NM_204423.1  NP_989754.1 
    zebrafish
    (Danio rerio)
    Actinopterygii fmn11 formin 1 52.86(n)
    46.03(a)
      561077  XM_684477.2  XP_689569.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta capu6
    cappuccino
    18(a)
    1 → many
    2L(3872658-3902860)


    ENSEMBL Gene Tree for FMN1 (if available)
    TreeFam Gene Tree for FMN1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FMN1 gene
    DAAM12  DIAPH12  FMNL32  FHDC12  FMNL12  DAAM22  INF22  FMNL22  
    GRID2IP2  DIAPH22  FMN22  DIAPH32  
    2 SIMAP similar genes for FMN1 using alignment to 6 protein entries:     FMN1_HUMAN (see all proteins):
    FMN2    DIAPH1

    FMN1 for paralogs           About GeneDecksing



    (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) 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

    10/10658 SNPs in FMN1 are shown (see all 10658)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs30814201,2
    C--10174441(+) AAAAA-/AA/   
       AAAAA
    GACAC
    2 -- int11NA 2
    rs105405961,2
    C--13134185(+) CCCTC-/CCTA  
            
    CCTAT
    2 -- int10--------
    rs112808921,2
    C--33057276(+) AAGTG-/TTTTGA
            
    TTTTA
    2 -- cds10--------
    rs714246681,2
    C--33057280(+) GTTTT-/GATTTT
            
    ATGTT
    2 -- cds11Minor allele frequency- GATTTT:0.50NA 2
    rs12587211,2
    C,F,A,H--33057357(+) ATCCAT/AACAAT 2 -- int113Minor allele frequency- A:0.17NS EA NA WA CSA 788
    rs1922566981,2
    --33057475(+) TTTTGA/GGTAAG 2 -- int10--------
    rs592315361,2
    C,F--33057501(+) GCCTGG/CCTGGT 2 -- int11Minor allele frequency- C:0.50WA 2
    rs1164982011,2
    F--33057540(+) TCTGGC/TCAAGT 2 -- int11Minor allele frequency- T:0.04WA 118
    rs572847641,2
    --33057566(+) GGGGAC/AAAATG 2 -- int11Minor allele frequency- A:0.50CSA 2
    rs286979911,2
    C,F--33057567(+) GGGACT/AAATGG 2 -- int110Minor allele frequency- A:0.47NA WA CSA EA 372

    HapMap Linkage Disequilibrium report for FMN1 (33057747 - 33307747 bp, first 250kb of FMN1)

    Structural Variations
         Database of Genomic Variants (DGV) 10/19 variations for FMN1 (see all 19):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1533512CNV Deletion17803354
    esv2749543CNV Deletion23290073
    esv1647338CNV Deletion17803354
    esv2749544CNV Deletion23290073
    esv1089006CNV Deletion17803354
    esv2422296CNV Duplication17116639
    esv268415CNV Insertion20981092
    esv1210728CNV Insertion17803354
    nsv832962CNV Loss17160897
    nsv1482CNV Loss18451855


    Human Gene Mutation Database (HGMD): FMN1
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 136535    OMIM disorders: --

    15 diseases for FMN1:    About MalaCards
    sarcomatosis    renal hypoplasia    thoracic outlet syndrome    asphyxiating thoracic dystrophy
    synostosis    renal agenesis    focal segmental glomerulosclerosis    wiskott-aldrich syndrome
    cleft palate    cleft lip    alcoholism    prostate cancer
    prostatitis    pancreatitis    endotheliitis

    1 disease from the University of Copenhagen DISEASES database for FMN1:
    Renal agenesis

    FMN1 for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for FMN1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    wiskott-aldrich syndrome 63.1 1 18669664 (1)
    tumors 0.43 2 19276357 (2)
    cancer 0 1 16358408 (1)

    Genetic Association Database (GAD): FMN1
    Human Genome Epidemiology (HuGE) Navigator: FMN1 (5 documents)

    Export disorders for FMN1 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 FMN1 gene, integrated from 9 sources (see all 146):
    (articles sorted by number of sources associating them with FMN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A human gene homologous to the formin gene residing at the murine limb deformity locus: chromosomal location and RFLPs. (PubMed id 1673046)1, 2, 3, 9 Maas R.L.... Leder P. (1991)
    2. Identification and characterization of the human FMN1 gene in silico. (PubMed id 15202026)1, 2, 9 Katoh M. and Katoh M. (2004)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    4. Genome-wide association study identifies two suscepti bility loci for nonsyndromic cleft lip with or without cleft palate. (PubMed id 20023658)1, 4 Mangold E....NAPthen M.M. (2010)
    5. [A study of the single nucleotide polymorphism in sev en genes (GHR, IGFBP3, IGFR1, IRS1, FMN1, ANXA2, TaGLN) in ethnic Russians and in patients with prostate cancer] (PubMed id 20540360)1, 4 Lisitskaia K.V....Shishkin S.S. (2010)
    6. Microsatellite scan identifies new candidate genes for susceptibility to alcoholic chronic pancreatitis in Japanese patients. (PubMed id 19096130)1, 4 Kitahara K....Ota M. (2008)
    7. Identification of a short Spir interaction sequence a t the C-terminal end of formin subgroup proteins. (PubMed id 19605360)1, 9 Pechlivanis M....Kerkhoff E. (2009)
    8. Mammalian formin-1 participates in adherens junctions and polymerization of linear actin cables. (PubMed id 14647292)1, 9 Kobielak A....Fuchs E. (2004)
    9. Common genetic variation and antidepressant efficacy i n major depressive disorder: a meta-analysis of three genome-wide pharmacogeneti c studies. (PubMed id 23377640)1 (2013)
    10. Filopodia initiation: focus on the Arp2/3 complex and formins. (PubMed id 21975549)1 Yang C. and Svitkina T. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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      Query String
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 342184 HGNC: 3768 AceView: FMN Ensembl:ENSG00000248905 euGenes: HUgn342184
    ECgene: FMN1 H-InvDB: FMN1

    (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
    NameDescription
    PharmGKB entry for FMN1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for FMN1 gene:
    Search GeneIP for patents involving FMN1

    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: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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