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

FMOD Gene

protein-coding   GIFtS: 65
GCID: GC01M203311

Fibromodulin

  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
fibromodulin1 2     SLRR2E2 3
Collagen-Binding 59 KDa Protein2 3     KSPG Fibromodulin2 3
Keratan Sulfate Proteoglycan Fibromodulin2 3     Fibromodulin Proteoglycan1
FM2 3     

External Ids:    HGNC: 37741   Entrez Gene: 23312   Ensembl: ENSG000001221767   OMIM: 6002455   UniProtKB: Q068283   

Export aliases for FMOD gene to outside databases

Previous GC identifers: GC01M200989 GC01M198747 GC01M199776 GC01M200598 GC01M200041 GC01M201576 GC01M174474


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

Entrez Gene summary for FMOD Gene:
Fibromodulin belongs to the family of small interstitial proteoglycans. The encoded protein possesses a central
region containing leucine-rich repeats with 4 keratan sulfate chains, flanked by terminal domains containing
disulphide bonds. Owing to the interaction with type I and type II collagen fibrils and in vitro inhibition of
fibrillogenesis, the encoded protein may play a role in the assembly of extracellular matrix. It may also
regulate TGF-beta activities by sequestering TGF-beta into the extracellular matrix. Sequence variations in this
gene may be associated with the pathogenesis of high myopia. Alternative splicing results in multiple transcript
variants. (provided by RefSeq, Jun 2013)

GeneCards Summary for FMOD Gene: 
FMOD (fibromodulin) is a protein-coding gene. Diseases associated with FMOD include kniest dysplasia, and hypochondrogenesis, and among its related super-pathways are Metabolism of carbohydrates and Keratan sulfate/keratin metabolism. An important paralog of this gene is PODN.

UniProtKB/Swiss-Prot: FMOD_HUMAN, Q06828
Function: Affects the rate of fibrils formation. May have a primary role in collagen fibrillogenesis (By
similarity)

Gene Wiki entry for FMOD 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.2  NT_004487.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FMOD gene promoter:
         HFH-3   STAT1   STAT1beta   C/EBPalpha   GATA-2   STAT1alpha   FOXI1   c-Rel   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFMOD promoter sequence
   Search SABiosciences Chromatin IP Primers for FMOD

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


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

Entrez Gene cytogenetic band: 1q32   Ensembl cytogenetic band:  1q32.1   HGNC cytogenetic band: 1q32

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M203311:  view genomic region     (about GC identifiers)

Start:
203,309,752 bp from pter      End:
203,320,617 bp from pter
Size:
10,866 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: FMOD_HUMAN, Q06828 (See protein sequence)
Recommended Name: Fibromodulin precursor  
Size: 376 amino acids; 43179 Da
Subunit: Binds to type I and type II collagen (By similarity)
Subcellular location: Secreted, extracellular space, extracellular matrix
Secondary accessions: Q15331 Q8IV47

Explore the universe of human proteins at neXtProt for FMOD: NX_Q06828

Explore proteomics data for FMOD at MOPED 

Post-translational modifications:

  • UniProtKB: Binds keratan sulfate chains
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q06828

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

    FMOD Protein Expression
    REFSEQ proteins: NP_002014.2  
    ENSEMBL proteins: 
     ENSP00000347041  
    Reactome Protein details: Q06828
    Human Recombinant Protein Products for FMOD: 
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    Novus Biologicals FMOD Protein
    Novus Biologicals FMOD Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for FMOD 

    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:0005576extracellular region TAS--
    GO:0005578proteinaceous extracellular matrix IEA--
    GO:0005615extracellular space IDA--
    GO:0005796Golgi lumen TAS--
    GO:0031012colocalizes with extracellular matrix IDA--

    FMOD for ontologies           About GeneDecksing



    FMOD Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for FMOD 

    Assay Products for FMOD: 
    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for FMOD
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for FMOD 
    Cloud-Clone Corp. CLIAs for FMOD


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    SLRR: Proteoglycans / Extracellular Matrix : Small leucine-rich repeats

    4 InterPro protein domains:
     IPR027215 Fibromodulin
     IPR001611 Leu-rich_rpt
     IPR003591 Leu-rich_rpt_typical-subtyp
     IPR000372 LRR-contain_N

    Graphical View of Domain Structure for InterPro Entry Q06828

    ProtoNet protein and cluster: Q06828

    1 Blocks protein domain: IPB000372 Cysteine-rich flanking region

    UniProtKB/Swiss-Prot: FMOD_HUMAN, Q06828
    Similarity: Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class II subfamily
    Similarity: Contains 11 LRR (leucine-rich) repeats
    Similarity: Contains 1 LRRNT domain


    FMOD 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: FMOD_HUMAN, Q06828
    Function: Affects the rate of fibrils formation. May have a primary role in collagen fibrillogenesis (By
    similarity)

         Genatlas biochemistry entry for FMOD:
    fibromodulin,small collagen-binding proteoglycan of the extra-cellular matrix,mainly expressed in articular
    cartilage,tendon,ligament,leucine-rich repeat (LRR) family

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    FMOD for ontologies           About GeneDecksing


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 1 allele(MGI details for Fmod):
     behavior/neurological  cardiovascular system  growth/size  immune system  integument 
     limbs/digits/tail  muscle  skeleton  vision/eye 

    FMOD for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Fmodtm1Aol for FMOD

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

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

    miRNA
    Products:
        
    miRTarBase miRNAs that target FMOD:
    hsa-mir-21 (MIRT001188)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FMOD
    8/17 QIAGEN miScript miRNA Assays for microRNAs that regulate FMOD (see all 17):
    hsa-miR-202 hsa-miR-29b-1* hsa-miR-105 hsa-miR-558 hsa-miR-3119 hsa-miR-2113 hsa-miR-203 hsa-miR-548p
    SwitchGear 3'UTR luciferase reporter plasmidFMOD 3' UTR sequence
    Inhib. RNA
    Products:
        
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    OriGene RNAi products in human, mouse, rat for FMOD
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    Gene Editing
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    Sino Biological Human cDNA Clone for FMOD
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FMOD
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                         Customized lentivirus expression plasmids for stable overexpression of FMOD 

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


    (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 FMOD About   (see all 8)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1MPS IIIC - Sanfilippo syndrome C
    MPS IIIC - Sanfilippo syndrome C0.48
    Glycosaminoglycan metabolism0.48
    MPS IV - Morquio syndrome A0.48
    MPS IIID - Sanfilippo syndrome D0.48
    MPS VI - Maroteaux-Lamy syndrome0.48
    MPS I - Hurler syndrome0.48
    MPS IV - Morquio syndrome B0.48
    MPS IX - Natowicz syndrome0.48
    2Keratan sulfate biosynthesis
    Keratan sulfate biosynthesis0.82
    Keratan sulfate degradation0.38
    Keratan sulfate/keratin metabolism0.82
    3Metabolism
    Metabolism0.40
    4Collagen biosynthesis and modifying enzymes
    Extracellular matrix organization0.39
    5Non-integrin membrane-ECM interactions
    ECM proteoglycans0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for FMOD
        Metalloproteases in connective tissue degradation

    1 R&D Systems Pathway for FMOD
        Articular Cartilage Extracellular Matrix



    5/21        Reactome Pathways for FMOD (see all 21)
        MPS VI - Maroteaux-Lamy syndrome
    Metabolism
    Disease
    Keratan sulfate/keratin metabolism
    ECM proteoglycans



    FMOD for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for FMOD

    STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

    5/23 Interacting proteins for FMOD (Q068282, 3 ENSP000003470414) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TGFB1P011373, ENSP000002219304I2D: score=3 STRING: ENSP00000221930
    TGFB2P618123, ENSP000003558964I2D: score=1 STRING: ENSP00000355896
    TGFB3P106003, ENSP000002386824I2D: score=2 STRING: ENSP00000238682
    KERAENSP000002667194STRING: ENSP00000266719
    LUMENSP000002667184STRING: ENSP00000266718
    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:0005975carbohydrate metabolic process TAS--
    GO:0007181transforming growth factor beta receptor complex assembly TAS8093006
    GO:0018146keratan sulfate biosynthetic process TAS--
    GO:0030198extracellular matrix organization TAS--
    GO:0030203glycosaminoglycan metabolic process TAS--

    FMOD 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

    FMOD for compounds           About GeneDecksing

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

    Browse Tocris compounds for FMOD

    1 HMDB Compound for FMOD    About this table
    CompoundSynonyms CAS #PubMed Ids
    KeratanKerato sulfate (see all 4)69992-87-6--

    10/12 Novoseek inferred chemical compound relationships for FMOD gene (see all 12)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    keratan sulfate 85.5 12 8895216 (2), 9782536 (1), 16046396 (1), 10488504 (1) (see all 10)
    chondroitin sulfate 65.1 6 10207837 (1), 9688269 (1), 11603505 (1), 15982861 (1) (see all 6)
    glycosaminoglycan 62.7 2 8093006 (1), 17293598 (1)
    polylactosamine 53.8 3 8253794 (2), 8895216 (1)
    chondroitin 53.2 2 8093006 (1), 11012890 (1)
    dermatan sulfate 39.1 3 8093006 (1), 9688269 (1), 2287949 (1)
    hyaluronic acid 36.1 4 11991580 (1), 17071473 (1), 11800374 (1), 18300448 (1)
    procollagen 25.6 2 15613083 (1), 15987500 (1)
    leucine 21.5 4 19358237 (2), 17093390 (1), 12704803 (1)
    proline 19.2 3 19155499 (1), 14551531 (1), 15970583 (1)

    Search CenterWatch for drugs/clinical trials and news about FMOD

    (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 FMOD gene: 
    NM_002023.4  

    Unigene Cluster for FMOD:

    Fibromodulin
    Hs.519168  [show with all ESTs]
    Unigene Representative Sequence: NM_002023
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000464898 ENST00000354955(uc001gzr.3) ENST00000493296 ENST00000461936

    miRNA
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    8/17 QIAGEN miScript miRNA Assays for microRNAs that regulate FMOD (see all 17):
    hsa-miR-202 hsa-miR-29b-1* hsa-miR-105 hsa-miR-558 hsa-miR-3119 hsa-miR-2113 hsa-miR-203 hsa-miR-548p
    SwitchGear 3'UTR luciferase reporter plasmidFMOD 3' UTR sequence
    Inhib. RNA
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    Clone
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    Additional mRNA sequence: 

    AK092899.1 AK098322.1 AK172740.1 AK291632.1 AK303866.1 BC035281.1 U05291.1 X75546.1 

    23 DOTS entries:

    DT.97798133  DT.100043388  DT.92439944  DT.318027  DT.95166122  DT.121379318  DT.99951357  DT.100039707 
    DT.100039711  DT.92439942  DT.95107399  DT.97860146  DT.99945028  DT.100030965  DT.121379317  DT.121379330 
    DT.121379334  DT.121379342  DT.40105845  DT.100795190  DT.121379320  DT.121379341  DT.95284231 

    24/434 AceView cDNA sequences (see all 434):

    BG537603 BQ044957 AI304378 BG060123 BQ181256 BM694863 BQ180872 AA501983 
    U05291 AI061052 BM679462 BQ181031 CN480085 AK092899 BG222856 BQ182598 
    BQ181662 BQ181632 AI669960 BE395547 CN479678 BI836713 BQ181876 BQ025128 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for FMOD (see all 7)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c
    SP1:              -     -           -                                       
    SP2:              -     -                 -     -     -     -               
    SP3:              -     -                                                   
    SP4:                    -                                                   
    SP5:              -     -     -     -     -           -                     


    ECgene alternative splicing isoforms for FMOD

    (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

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


    FMOD expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/25 selected tissues (see all 25) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 18 entries
             Zeugopod Long Bone
             HyStem+TGFbeta3+GDF5-induced SK11 cells
             skeleton/pectoral girdle and thoracic body wall/scapula   
     
     Cartilage (Muscoskeletal System)    fully expand to see all 17 entries
             Intervertebral Disc Annulus Fibrosus Cells Thoracic Intervertebral Disc
             Intervertebral disc (IVD) annulus fibrosus (AF) cells
             sensory organ/nose/nasal septum   
     
     Heart (Cardiovascular System)    fully expand to see all 4 entries
             Atrioventricular Node Cells Atrioventricular Node
             Coronary Artery Smooth Muscle Cells (CASMC)   
             heart/valve   
     
     Limb (Muscoskeletal System)    fully expand to see all 4 entries
             Interzone Cells Stylopod Synovial Joint
             Autopod
     
     Tendon & Ligament (Muscoskeletal System)    fully expand to see all 4 entries
             Early Tenocyte Cells Limb Tendon Primordia

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

    SOURCE GeneReport for Unigene cluster: Hs.519168
        SABiosciences Custom PCR Arrays for FMOD
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FMOD

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for FMOD gene from 4/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fmod1 , 5 fibromodulin1, 5 88.74(n)1
    92.55(a)1
      1 (58.09 cM)5
    142641  NM_021355.31  NP_067330.11 
     1340372545 
    chicken
    (Gallus gallus)
    Aves FMOD1 fibromodulin 72.55(n)
    69.79(a)
      395814  NM_204967.1  NP_990298.1 
    lizard
    (Anolis carolinensis)
    Reptilia FMOD6
    Uncharacterized protein
    69(a)
    1 ↔ 1
    4(118742803-118768180)
    zebrafish
    (Danio rerio)
    Actinopterygii fmodb1 fibromodulin b 58.71(n)
    53.93(a)
      797559  XM_001337991.1  XP_001338027.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FMOD gene
    PODN2  FLRT12  PODNL12  KERA2  PRELP2  FLRT32  OMD2  ASPN2  
    BGN2  DCN2  FLRT22  ECM22  LUM2  
    5 SIMAP similar genes for FMOD using alignment to 1 protein entry:     FMOD_HUMAN:
    LUM    MST161    KERA    PRELP    OMD

    FMOD 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

    10/394 SNPs in FMOD are shown (see all 394)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1479322901,2
    --174487242(+) ATGAAA/GCCTAA 1 -- us2k10--------
    rs66829961,2
    C,A--174487305(+) ATCAAT/AGATAA 1 -- us2k1 tfbs312Minor allele frequency- A:0.24NA WA CSA EA 374
    rs66587261,2
    C,A--174487377(+) GTGAGA/CCCCAC 1 -- us2k111Minor allele frequency- C:0.24NA WA CSA EA 372
    rs66716501,2
    C,F,A--174487415(+) TAACCC/TCCCAC 1 -- us2k111Minor allele frequency- T:0.24NA WA CSA EA 373
    rs1466517491,2
    --203309262(+) TCACGA/GTATGA 1 -- int10--------
    rs1484158371,2
    --203309287(+) AGAAAA/GCAAAT 1 -- int10--------
    rs1928789251,2
    --203309308(+) GGTTTA/GTTTTC 1 -- int10--------
    rs1426831291,2
    --203309318(+) CCTCTA/TCCAGG 1 -- int10--------
    rs1510195211,2
    --203309319(+) CTCTTA/CCAGGG 1 -- int10--------
    rs1408177941,2
    --203309407(+) ATACCC/TAGGAC 1 -- int10--------

    HapMap Linkage Disequilibrium report for FMOD (203309752 - 203320617 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for FMOD: --
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing FMOD
    DNA2.0 Custom Variant and Variant Library Synthesis for FMOD

    (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: 600245    OMIM disorders: --

    20/25 diseases for FMOD (see all 25):    About MalaCards
    kniest dysplasia    hypochondrogenesis    pseudoachondroplasia    refractive error
    b-cell chronic lymphocytic leukemia    myopia    morquio syndrome b    mantle cell lymphoma
    vaginitis    age related macular degeneration    macular degeneration    chondrodysplasia
    cleft lip    chronic lymphocytic leukemia    leiomyoma    gingivitis
    essential hypertension    osteoarthritis    periodontitis    hypertension

    1 disease from the University of Copenhagen DISEASES database for FMOD:
    Osteoarthritis

    FMOD for disorders           About GeneDecksing

    10/11 Novoseek inferred disease relationships for FMOD gene (see all 11)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    collagen fibril 76.1 17 15966909 (2), 15592176 (1), 16979885 (1), 10488504 (1) (see all 13)
    psach 60.5 2 8030664 (1), 11691584 (1)
    lymphocytic leukemia chronic b-cell 57.5 1 15741214 (1)
    arthritis 36.7 1 19765101 (1)
    refractive errors 27.1 1 17117407 (1)
    myopia 26.7 7 15592176 (3), 19710942 (2), 17117407 (1)
    scar 0 4 17219096 (2), 11800374 (1)
    renal disease 0 1 11012890 (1)
    inflammation 0 2 16046396 (2)
    tumors 0 1 17071473 (1)

    Genetic Association Database (GAD): FMOD
    Human Genome Epidemiology (HuGE) Navigator: FMOD (2 documents)

    Export disorders for FMOD 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 FMOD gene, integrated from 9 sources (see all 165):
    (articles sorted by number of sources associating them with FMOD)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Interaction of the small interstitial proteoglycans biglycan, decorin and fibromodulin with transforming growth factor beta. (PubMed id 8093006)1, 2, 9 Hildebrand A.... Ruoslahti E. (1994)
    2. Sclera-related gene polymorphisms in high myopia. (PubMed id 19710942)1, 4, 9 Lin H.J....Tsai F.J. (2009)
    3. Localization of the human fibromodulin gene (FMOD) to chromosome 1q32 and completion of the cDNA sequence. (PubMed id 7851907)1, 3, 9 Sztrolovics R....Korenberg J.R. (1994)
    4. Structure and deduced amino acid sequence of the human fibromodulin gene. (PubMed id 8357838)1, 2, 9 Antonsson P.... Oldberg A. (1993)
    5. Follow-up of a major linkage peak on chromosome 1 rev eals suggestive QTLs associated with essential hypertension: GenNet study. (PubMed id 19536175)1, 4 Ehret G.B....Chakravarti A. (2009)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. Fibromodulin is expressed in leiomyoma and myometrium and regulated by gonadotropin-releasing hormone analogue therapy and TGF-beta through Smad and MAPK-mediated signalling. (PubMed id 16123076)1, 9 Levens E....Chegini N. (2005)
    8. The extracellular matrix and inflammation: fibromodulin activates the classical pathway of complement by directly binding C1q. (PubMed id 16046396)1, 9 Sjoberg A....Blom A.M. (2005)
    9. Structural requirements for fibromodulin binding to collagen and the control of type I collagen fibrillogenesis--critical roles for disulphide bonding and the C-terminal region. (PubMed id 9688269)1, 9 Font B....Hulmes D.J. (1998)
    10. Fibromodulin, an extracellular matrix protein: characterization of its unique gene and protein expression in B-cell chronic lymphocytic leukemia and mantle cell lymphoma. (PubMed id 15741214)1, 9 Mikaelsson E....Rabbani H. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 2331 HGNC: 3774 AceView: FMOD Ensembl:ENSG00000122176 euGenes: HUgn2331
    ECgene: FMOD H-InvDB: FMOD

    (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 FMOD Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for FMOD Genetics and Cytogenetics in Oncology and Haematology

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

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



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    About This Section

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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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