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 ... See more...

Aliases for FMOD Gene

Aliases for FMOD Gene

  • Fibromodulin 2 3 4 5
  • Keratan Sulfate Proteoglycan Fibromodulin 3 4
  • Collagen-Binding 59 KDa Protein 3 4
  • KSPG Fibromodulin 3 4
  • SLRR2E 3 4
  • FM 3 4
  • Epididymis Secretory Sperm Binding Protein 3
  • Fibromodulin Proteoglycan 2

External Ids for FMOD Gene

Previous GeneCards Identifiers for FMOD Gene

  • GC01M200989
  • GC01M198747
  • GC01M199776
  • GC01M200598
  • GC01M200041
  • GC01M201576
  • GC01M203311
  • GC01M174474

Summaries for FMOD Gene

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 Hypochondrogenesis and Pseudoachondroplasia. Among its related pathways are Keratan sulfate/keratin metabolism and Defective B4GALT1 causes B4GALT1-CDG (CDG-2d). An important paralog of this gene is LUM.

UniProtKB/Swiss-Prot Summary for FMOD Gene

  • Affects the rate of fibrils formation. May have a primary role in collagen fibrillogenesis (By similarity).

Gene Wiki entry for FMOD Gene

Additional gene information for FMOD Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FMOD Gene

Genomics for FMOD Gene

GeneHancer (GH) Regulatory Elements for FMOD Gene

Promoters and enhancers for FMOD Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FMOD on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FMOD gene promoter:
  • c-Rel
  • C/EBPalpha
  • FOXI1
  • GATA-2
  • HFH-3
  • Pax-4a
  • STAT1
  • STAT1alpha
  • STAT1beta

Genomic Locations for FMOD Gene

Genomic Locations for FMOD Gene
chr1:203,340,621-203,351,758
(GRCh38/hg38)
Size:
11,138 bases
Orientation:
Minus strand
chr1:203,309,752-203,320,617
(GRCh37/hg19)
Size:
10,866 bases
Orientation:
Minus strand

Genomic View for FMOD Gene

Genes around FMOD on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for FMOD Gene

Proteins for FMOD Gene

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

    Protein Symbol:
    Q06828-FMOD_HUMAN
    Recommended name:
    Fibromodulin
    Protein Accession:
    Q06828
    Secondary Accessions:
    • Q15331
    • Q8IV47

    Protein attributes for FMOD Gene

    Size:
    376 amino acids
    Molecular mass:
    43179 Da
    Quaternary structure:
    • Binds to type I and type II collagen.

    Three dimensional structures from OCA and Proteopedia for FMOD Gene

neXtProt entry for FMOD Gene

Post-translational modifications for FMOD Gene

  • Binds keratan sulfate chains.
  • Glycosylation at Asn127, Asn166, Asn201, Asn291, and Asn341
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for FMOD Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FMOD Gene

Domains & Families for FMOD Gene

Gene Families for FMOD Gene

Suggested Antigen Peptide Sequences for FMOD Gene

GenScript: Design optimal peptide antigens:
  • Keratan sulfate proteoglycan fibromodulin (FMOD_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q06828

UniProtKB/Swiss-Prot:

FMOD_HUMAN :
  • Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class II subfamily.
Family:
  • Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class II subfamily.
genes like me logo Genes that share domains with FMOD: view

Function for FMOD Gene

Molecular function for FMOD Gene

UniProtKB/Swiss-Prot Function:
Affects the rate of fibrils formation. May have a primary role in collagen fibrillogenesis (By similarity).
GENATLAS Biochemistry:
fibromodulin,small collagen-binding proteoglycan of the extra-cellular matrix,mainly expressed in articular cartilage,tendon,ligament,leucine-rich repeat (LRR) family

Phenotypes From GWAS Catalog for FMOD Gene

Gene Ontology (GO) - Molecular Function for FMOD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030021 extracellular matrix structural constituent conferring compression resistance RCA 20551380
genes like me logo Genes that share ontologies with FMOD: view
genes like me logo Genes that share phenotypes with FMOD: view

Animal Models for FMOD Gene

MGI Knock Outs for FMOD:

Animal Model Products

CRISPR Products

miRNA for FMOD Gene

miRTarBase miRNAs that target FMOD

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FMOD Gene

Localization for FMOD Gene

Subcellular locations from UniProtKB/Swiss-Prot for FMOD Gene

Secreted, extracellular space, extracellular matrix.

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 FMOD gene
Compartment Confidence
extracellular 5
lysosome 4
golgi apparatus 4
plasma membrane 1
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for FMOD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region HDA,TAS --
GO:0005615 extracellular space HDA 20551380
GO:0005796 Golgi lumen TAS --
GO:0031012 extracellular matrix TAS 8093006
GO:0043202 lysosomal lumen TAS --
genes like me logo Genes that share ontologies with FMOD: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FMOD Gene

Pathways & Interactions for FMOD Gene

genes like me logo Genes that share pathways with FMOD: view

Gene Ontology (GO) - Biological Process for FMOD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007181 transforming growth factor beta receptor complex assembly TAS 8093006
GO:0018146 keratan sulfate biosynthetic process TAS --
GO:0030199 collagen fibril organization IEA --
GO:0042340 keratan sulfate catabolic process TAS --
genes like me logo Genes that share ontologies with FMOD: view

No data available for SIGNOR curated interactions for FMOD Gene

Drugs & Compounds for FMOD Gene

(7) Drugs for FMOD Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(6) Additional Compounds for FMOD Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Keratan
  • Keratan 6'-sulfate
  • Keratan 6'-sulphate
  • Keratan sulfate
  • Keratan sulphate
  • kerato 6'-Sulfate
69992-87-6
genes like me logo Genes that share compounds with FMOD: view

Transcripts for FMOD Gene

mRNA/cDNA for FMOD Gene

CRISPR Products

Clone Products

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

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c
SP1: - - -
SP2: - - - - - -
SP3: - -
SP4: -
SP5: - - - - - -
SP6: -
SP7: - - - - -

Relevant External Links for FMOD Gene

GeneLoc Exon Structure for
FMOD
ECgene alternative splicing isoforms for
FMOD

Expression for FMOD Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Artery - Aorta (x7.8), Artery - Coronary (x7.5), and Artery - Tibial (x5.2).

Protein differential expression in normal tissues from HIPED for FMOD Gene

This gene is overexpressed in Cerebral cortex (12.6), Ovary (7.3), Uterus (7.1), and Spinal cord (6.3).

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



Protein tissue co-expression partners for FMOD Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FMOD Gene:

FMOD

SOURCE GeneReport for Unigene cluster for FMOD Gene:

Hs.519168

Evidence on tissue expression from TISSUES for FMOD Gene

  • Nervous system(4.5)
  • Liver(4.1)
  • Bone(3.3)
  • Intestine(3)
  • Lung(2.7)
  • Eye(2.4)
  • Muscle(2.4)
  • Stomach(2.2)
  • Heart(2.1)
  • Skin(2.1)
genes like me logo Genes that share expression patterns with FMOD: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FMOD Gene

Orthologs for FMOD Gene

This gene was present in the common ancestor of chordates.

Orthologs for FMOD Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FMOD 33 32
  • 99.73 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FMOD 33 32
  • 91.67 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FMOD 33
  • 91 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FMOD 33 32
  • 90.84 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Fmod 17 33 32
  • 88.74 (n)
rat
(Rattus norvegicus)
Mammalia Fmod 32
  • 88.56 (n)
chicken
(Gallus gallus)
Aves FMOD 33 32
  • 73.24 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FMOD 33
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fmod 32
  • 65.09 (n)
zebrafish
(Danio rerio)
Actinopterygii fmodb 33 32
  • 60.57 (n)
OneToMany
fmoda 33
  • 55 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 26 (a)
OneToMany
Species where no ortholog for FMOD was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for FMOD Gene

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

Paralogs for FMOD Gene

Paralogs for FMOD Gene

(5) SIMAP similar genes for FMOD Gene using alignment to 1 proteins:

  • FMOD_HUMAN
genes like me logo Genes that share paralogs with FMOD: view

Variants for FMOD Gene

Sequence variations from dbSNP and Humsavar for FMOD Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000142454 -- 203,346,234(-) G/A intron_variant
rs1000880403 -- 203,351,974(-) G/A upstream_transcript_variant
rs1001082272 -- 203,342,689(-) G/A intron_variant
rs1001150789 -- 203,345,060(-) C/T intron_variant
rs1001163160 -- 203,352,890(-) T/C upstream_transcript_variant

Variation tolerance for FMOD Gene

Residual Variation Intolerance Score: 68.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.92; 35.76% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FMOD Gene

Human Gene Mutation Database (HGMD)
FMOD
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FMOD

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for FMOD Gene

Disorders for FMOD Gene

MalaCards: The human disease database

(8) MalaCards diseases for FMOD Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hypochondrogenesis
  • achondrogenesis type ii/hypochondrogenesis
pseudoachondroplasia
  • psach
achondrogenesis, type ii
  • acg2
kniest dysplasia
  • kd
myopia
  • near vision
- elite association - COSMIC cancer census association via MalaCards
Search FMOD in MalaCards View complete list of genes associated with diseases

Additional Disease Information for FMOD

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 FMOD: view

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

Publications for FMOD Gene

  1. Sclera-related gene polymorphisms in high myopia. (PMID: 19710942) Lin HJ … Tsai FJ (Molecular vision 2009) 3 23 43 56
  2. Interaction of the small interstitial proteoglycans biglycan, decorin and fibromodulin with transforming growth factor beta. (PMID: 8093006) Hildebrand A … Ruoslahti E (The Biochemical journal 1994) 3 4 23 56
  3. Localization of the human fibromodulin gene (FMOD) to chromosome 1q32 and completion of the cDNA sequence. (PMID: 7851907) Sztrolovics R … Korenberg JR (Genomics 1994) 2 3 23 56
  4. Structure and deduced amino acid sequence of the human fibromodulin gene. (PMID: 8357838) Antonsson P … Oldberg A (Biochimica et biophysica acta 1993) 3 4 23 56
  5. Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study. (PMID: 19536175) Ehret GB … Chakravarti A (European journal of human genetics : EJHG 2009) 3 43 56

Products for FMOD Gene

Sources for FMOD Gene