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    FMOD fibromodulin [ Homo sapiens (human) ]

    Gene ID: 2331, updated on 15-Apr-2018
    Official Symbol
    FMODprovided by HGNC
    Official Full Name
    fibromodulinprovided by HGNC
    Primary source
    HGNC:HGNC:3774
    See related
    Ensembl:ENSG00000122176 MIM:600245; Vega:OTTHUMG00000035910
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FM; SLRR2E
    Summary
    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]
    Expression
    Broad expression in gall bladder (RPKM 78.8), fat (RPKM 77.4) and 22 other tissues See more
    Orthologs
    Location:
    1q32.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (203340621..203351429, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (203309749..203320557, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene BTG anti-proliferation factor 2 Neighboring gene RNA, U6 small nuclear 487, pseudogene Neighboring gene small EDRK-rich factor 2 pseudogene Neighboring gene uncharacterized LOC102723529

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog
    • Defective B4GALT1 causes B4GALT1-CDG (CDG-2d), organism-specific biosystem (from REACTOME)
      Defective B4GALT1 causes B4GALT1-CDG (CDG-2d), organism-specific biosystemCongenital disorders of glycosylation (CDG, previously called carbohydrate-deficient glycoprotein syndromes, CDGSs), are a group of hereditary multisystem disorders. They are characterized biochemica...
    • Defective CHST6 causes MCDC1, organism-specific biosystem (from REACTOME)
      Defective CHST6 causes MCDC1, organism-specific biosystemCarbohydrate sulfotransferase 6 (CHST6) catalyzes the transfer of sulfate to position 6 of non-reducing ends of N-acetylglucosamine (GlcNAc) residues on keratan sulfate (KS). KS plays a central role ...
    • Defective ST3GAL3 causes MCT12 and EIEE15, organism-specific biosystem (from REACTOME)
      Defective ST3GAL3 causes MCT12 and EIEE15, organism-specific biosystemCMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase (ST3GAL3) mediates the transfer of sialic acid from CMP-sialic acid to galactose-containing glycoproteins and forms the sialyl...
    • Disease, organism-specific biosystem (from REACTOME)
      Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
    • Diseases associated with glycosaminoglycan metabolism, organism-specific biosystem (from REACTOME)
      Diseases associated with glycosaminoglycan metabolism, organism-specific biosystemA number of genetic disorders are caused by mutations in the genes encoding glycosyltransferases and sulfotransferases, enzymes responsible for the synthesis of glycosaminoglycans (GAGs) as well as ...
    • Diseases of glycosylation, organism-specific biosystem (from REACTOME)
      Diseases of glycosylation, organism-specific biosystemDiseases of glycosylation, usually referred to as congenital disorders of glycosylation (CDG), are rare inherited disorders ascribing defects of nucleotide-sugar biosynthesis and transport, glycosylt...
    • ECM proteoglycans, organism-specific biosystem (from REACTOME)
      ECM proteoglycans, organism-specific biosystemProteoglycans are major components of the extracellular matrix. In cartilage the matrix constitutes more than 90% of tissue dry weight. Proteoglycans are proteins substituted with glycosaminoglycans ...
    • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
      Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
    • Glycosaminoglycan metabolism, organism-specific biosystem (from REACTOME)
      Glycosaminoglycan metabolism, organism-specific biosystemGlycosaminoglycans (GAGs) are long, unbranched polysaccharides containing a repeating disaccharide unit composed of a hexosamine (either N-acetylgalactosamine (GalNAc) or N-acetylglucosamine (GlcNAc)...
    • Keratan sulfate biosynthesis, organism-specific biosystem (from REACTOME)
      Keratan sulfate biosynthesis, organism-specific biosystemKeratan sulfate (KSI) is the best characterised keratan sulfate. It is 10 times more abundant in cornea than cartilage. KSI is attached to an asparagine (Asn) residue on the core protein via an N-lin...
    • Keratan sulfate degradation, organism-specific biosystem (from REACTOME)
      Keratan sulfate degradation, organism-specific biosystemKeratan sulfate proteoglycans (KSPGs) are degraded in lysosomes as part of normal homeostasis of glycoproteins. Glycoproteins must be completely degraded to avoid undigested fragments building up and...
    • Keratan sulfate/keratin metabolism, organism-specific biosystem (from REACTOME)
      Keratan sulfate/keratin metabolism, organism-specific biosystemKeratan sulfate (KS) (a glycosaminoglycan, GAG) is a linear polysaccharide that consists of the repeating disaccharide unit GlcNAc-Gal (N-acetylglucosamine-galactose). KS can perform a structural fun...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of carbohydrates, organism-specific biosystem (from REACTOME)
      Metabolism of carbohydrates, organism-specific biosystemThese pathways together are responsible for: 1) the extraction of energy and carbon skeletons for biosyntheses from dietary sugars and related molecules; 2) the short-term storage of glucose in the b...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    axonogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    NOT axonogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    collagen fibril organization IEA
    Inferred from Electronic Annotation
    more info
     
    keratan sulfate biosynthetic process TAS
    Traceable Author Statement
    more info
     
    keratan sulfate catabolic process TAS
    Traceable Author Statement
    more info
     
    transforming growth factor beta receptor complex assembly TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    Golgi lumen TAS
    Traceable Author Statement
    more info
     
    colocalizes_with extracellular matrix HDA PubMed 
    extracellular matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space HDA PubMed 
    extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    lysosomal lumen TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    fibromodulin
    Names
    KSPG fibromodulin
    collagen-binding 59 kDa protein
    keratan sulfate proteoglycan fibromodulin

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_002023.4NP_002014.2  fibromodulin precursor

      See identical proteins and their annotated locations for NP_002014.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the supported protein.
      Source sequence(s)
      AK092899, AL542756, BC035281, BQ183885, DC296345, U05291
      Consensus CDS
      CCDS30976.1
      UniProtKB/Swiss-Prot
      Q06828
      UniProtKB/TrEMBL
      A0A024R971, B3KS64, Q12833
      Related
      ENSP00000347041.4, OTTHUMP00000034098, ENST00000354955.4, OTTHUMT00000087472
      Conserved Domains (2) summary
      sd00033
      Location:107130
      LRR_RI; leucine-rich repeat [structural motif]
      cl26018
      Location:81309
      NEL; C-terminal novel E3 ligase, LRR-interacting

    RNA

    1. NR_103757.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
      Source sequence(s)
      BQ183885, DA918421, DC296345, U05291

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

      Range
      203340621..203351429 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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