FMOD (fibromodulin)

2004-04-01  

Identity

HGNC
LOCATION
1q32.1
LOCUSID
ALIAS
FM,SLRR2E
FUSION GENES

Other Information

Locus ID:

NCBI: 2331
MIM: 600245
HGNC: 3774
Ensembl: ENSG00000122176

Variants:

dbSNP: 2331
ClinVar: 2331
TCGA: ENSG00000122176
COSMIC: FMOD

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000122176ENST00000354955Q06828
ENSG00000122176ENST00000354955A0A024R971
ENSG00000122176ENST00000647586A0A3B3IRN5

Expression (GTEx)

0
100
200
300
400
500
600
700
800

Pathways

PathwaySourceExternal ID
DiseaseREACTOMER-HSA-1643685
Diseases of glycosylationREACTOMER-HSA-3781865
Diseases associated with glycosaminoglycan metabolismREACTOMER-HSA-3560782
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d)REACTOMER-HSA-3656244
Defective CHST6 causes MCDC1REACTOMER-HSA-3656225
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Glycosaminoglycan metabolismREACTOMER-HSA-1630316
Keratan sulfate/keratin metabolismREACTOMER-HSA-1638074
Keratan sulfate biosynthesisREACTOMER-HSA-2022854
Keratan sulfate degradationREACTOMER-HSA-2022857
Extracellular matrix organizationREACTOMER-HSA-1474244
ECM proteoglycansREACTOMER-HSA-3000178
Defective ST3GAL3 causes MCT12 and EIEE15REACTOMER-HSA-3656243

References

Pubmed IDYearTitleCitations
172935982007The factor H variant associated with age-related macular degeneration (His-384) and the non-disease-associated form bind differentially to C-reactive protein, fibromodulin, DNA, and necrotic cells.66
160463962005The extracellular matrix and inflammation: fibromodulin activates the classical pathway of complement by directly binding C1q.52
190082262009Homologous sequence in lumican and fibromodulin leucine-rich repeat 5-7 competes for collagen binding.38
186206072008Fragmentation of decorin, biglycan, lumican and keratocan is elevated in degenerate human meniscus, knee and hip articular cartilages compared with age-matched macroscopically normal and control tissues.34
195361752009Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study.30
192428382009Characterization of bone marrow-derived mesenchymal stromal cells (MSC) based on gene expression profiling of functionally defined MSC subsets.26
268933792016Fibromodulin Interacts with Collagen Cross-linking Sites and Activates Lysyl Oxidase.20
176236502007Fibromodulin binds collagen type I via Glu-353 and Lys-355 in leucine-rich repeat 11.19
188381682009Disruption of T cell suppression in chronic lymphocytic leukemia by CD200 blockade.19
197007672009The tyrosine sulfate-rich domains of the LRR proteins fibromodulin and osteoadherin bind motifs of basic clusters in a variety of heparin-binding proteins, including bioactive factors.18

Citation

Dessen P

FMOD (fibromodulin)

Atlas Genet Cytogenet Oncol Haematol. 2004-04-01

Online version: http://atlasgeneticsoncology.org/gene/40616/fmod