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    FMOD fibromodulin [ Homo sapiens (human) ]

    Gene ID: 2331, updated on 27-Nov-2024

    Summary

    Official Symbol
    FMODprovided by HGNC
    Official Full Name
    fibromodulinprovided by HGNC
    Primary source
    HGNC:HGNC:3774
    See related
    Ensembl:ENSG00000122176 MIM:600245; AllianceGenome:HGNC:3774
    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
    NEW
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    Genomic context

    See FMOD in Genome Data Viewer
    Location:
    1q32.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (203340628..203351122, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (202603493..202613991, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (203309756..203320250, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1719 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2345 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:203275924-203276866 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:203276867-203277809 Neighboring gene CRISPRi-validated cis-regulatory element chr1.10869 Neighboring gene BTG anti-proliferation factor 2 Neighboring gene RNA, U6 small nuclear 487, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:203293504-203294428 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1720 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2347 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2348 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2349 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:203297814-203298450 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:203311519-203312021 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:203315005-203315665 Neighboring gene small EDRK-rich factor 2 pseudogene Neighboring gene uncharacterized LOC102723529

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    General protein information

    Preferred Names
    fibromodulin
    Names
    KSPG fibromodulin
    collagen-binding 59 kDa protein
    epididymis secretory sperm binding protein
    keratan sulfate proteoglycan fibromodulin

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_002023.5NP_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, U05291
      Consensus CDS
      CCDS30976.1
      UniProtKB/Swiss-Prot
      Q06828, Q15331, Q8IV47
      UniProtKB/TrEMBL
      A0A024R971, A0A384N636, B4E1J3
      Related
      ENSP00000347041.4, ENST00000354955.5
      Conserved Domains (2) summary
      PRK15370
      Location:81309
      PRK15370; type III secretion system effector E3 ubiquitin transferase SlrP
      sd00033
      Location:107130
      LRR_RI; leucine-rich repeat [structural motif]

    RNA

    1. NR_103757.2 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, U05291

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      203340628..203351122 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047416304.1XP_047272260.1  fibromodulin isoform X1

      UniProtKB/Swiss-Prot
      Q06828, Q15331, Q8IV47
      UniProtKB/TrEMBL
      A0A024R971, A0A384N636

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      202603493..202613991 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)