Homo sapiens Gene: FMOD
Summary
InnateDB Gene IDBG-105950.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol FMOD
Gene Name fibromodulin
Synonyms FM; SLRR2E
Species Homo sapiens
Ensembl Gene ENSG00000122176
Encoded Proteins
fibromodulin
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary Fibromodulin is a member of a family of small interstitial proteoglycans, containing a central region composed of leucine-rich repeats with 4 keratan sulfate chains flanked by disulfide-bonded terminal domains. It may participate in the assembly of the extracellular matrix as it interacts with type I and type II collagen fibrils and inhibits fibrillogenesis in vitro. It may also regulate TGF-beta activities by sequestering TGF-beta into the extracellular matrix. [provided by RefSeq, Jul 2008]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:203340628-203351489
Strand Reverse strand
Band q32.1
Transcripts
ENST00000354955 ENSP00000347041
ENST00000493296
ENST00000461936
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
Experimentally validated
Total 7 [view]
Protein-Protein 7 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0005975 carbohydrate metabolic process
GO:0007181 transforming growth factor beta receptor complex assembly
GO:0018146 keratan sulfate biosynthetic process
GO:0030198 extracellular matrix organization
GO:0030203 glycosaminoglycan metabolic process
GO:0042339 keratan sulfate metabolic process
GO:0042340 keratan sulfate catabolic process
GO:0044281 small molecule metabolic process
Cellular Component
GO:0005576 extracellular region
GO:0005578 proteinaceous extracellular matrix
GO:0005615 extracellular space
GO:0005796 Golgi lumen
GO:0031012 extracellular matrix
GO:0043202 lysosomal lumen
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Keratan sulfate degradation pathway
Keratan sulfate biosynthesis pathway
Mucopolysaccharidoses pathway
Myoclonic epilepsy of Lafora pathway
Extracellular matrix organization pathway
Defective B4GALT7 causes EDS, progeroid type pathway
Defective CHST6 causes MCDC1 pathway
Keratan sulfate/keratin metabolism pathway
MPS VI - Maroteaux-Lamy syndrome pathway
Defective PAPSS2 causes SEMD-PA pathway
Metabolism of carbohydrates pathway
MPS IIID - Sanfilippo syndrome D pathway
Defective SLC26A2 causes chondrodysplasias pathway
MPS IX - Natowicz syndrome pathway
Defective EXT1 causes exostoses 1, TRPS2 and CHDS pathway
Defective CHST14 causes EDS, musculocontractural type pathway
MPS IV - Morquio syndrome B pathway
ECM proteoglycans pathway
Defective B3GAT3 causes JDSSDHD pathway
Defective CHST3 causes SEDCJD pathway
MPS IV - Morquio syndrome A pathway
Defective EXT2 causes exostoses 2 pathway
Diseases associated with glycosaminoglycan metabolism pathway
MPS II - Hunter syndrome pathway
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) pathway
Glycosaminoglycan metabolism pathway
Diseases of glycosylation pathway
MPS VII - Sly syndrome pathway
Defective CHSY1 causes TPBS pathway
Metabolism pathway
MPS I - Hurler syndrome pathway
MPS IIIA - Sanfilippo syndrome A pathway
MPS IIIC - Sanfilippo syndrome C pathway
Disease pathway
Glycogen storage diseases pathway
MPS IIIB - Sanfilippo syndrome B pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt Q06828
TrEMBL A0A024R971 B4E1J3 Q12833
UniProt Splice Variant
Entrez Gene 2331
UniGene Hs.519168 Hs.722829
RefSeq NM_002023
HUGO HGNC:3774
OMIM 600245
CCDS CCDS30976
HPRD 02591
IMGT
EMBL AK291632 AK303866 AL359837 BC035281 CH471067 U05291 X72913 X75546
GenPept AAA16153 AAH35281 BAF84321 BAG64805 CAA51418 CAA53233 CAH73821 EAW91477 EAW91478
RNA Seq Atlas 2331