BGN

Gene Information
 
Gene Symbol
BGN
 
Aliases
DSPG1, MRLS, PG-S1, PGI, SEMDX, SLRR1A
 
Entrez Gene ID
633
 
Gene Name
Biglycan
 
Chromosomal Location
Xq28
 
HGNC ID
 
Summary
This gene encodes a member of the small leucine-rich proteoglycan (SLRP) family of proteins. The encoded preproprotein is proteolytically processed to generate the mature protein, which plays a role in bone growth, muscle development and regeneration, and collagen fibril assembly in multiple tissues. This protein may also regulate inflammation and innate immunity. Additionally, the encoded protein may contribute to atherosclerosis and aortic valve stenosis in human patients. This gene and the related gene decorin are thought to be the result of a gene duplication. [provided by RefSeq, Nov 2015]
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0005576 Cellular component Extracellular region HDA 27068509
GO:0009986 Cellular component Cell surface IDA 2212616
GO:0031012 Cellular component Extracellular matrix NAS 1860845
GO:0062023 Cellular component Collagen-containing extracellular matrix HDA 25037231, 27559042, 28327460, 28675934
GO:0062023 Cellular component Collagen-containing extracellular matrix HDA 20551380
Protein Information
 
Protein Name
Biglycan, bone/cartilage proteoglycan-I, dermatan sulphate proteoglycan I, small leucine-rich protein 1A
 
Function
May be involved in collagen fiber assembly.
 
Refseq Proteins
 
UniProt
 
Pfam
Pfam Accession Pfam ID
PF13855 LRR_8
PF01462 LRRNT
Pathways
 
Reactome
 

 

A tetrasaccharide linker sequence is required for GAG synthesis
Chondroitin sulfate biosynthesis
Dermatan sulfate biosynthesis
CS/DS degradation
ECM proteoglycans
Defective B4GALT7 causes EDS, progeroid type
Defective B3GAT3 causes JDSSDHD
Defective CHST3 causes SEDCJD
Defective CHST14 causes EDS, musculocontractural type
Defective CHSY1 causes TPBS
Defective B3GALT6 causes EDSP2 and SEMDJL1

Interactions
 
STRING MINT IntAct
ENSP00000330237 P55211 P55211
    View interactions
     

Associated Diseases

Disease groupDisease NameReferences
Cardiovascular Diseases
Meester-Loeys Syndrome
Aortic aneurysm
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Marfan Syndrome
Ehlers-Danlos Syndrome
Skeletal Dysplasia
References
 

Abnormal gene expression profiles in human ovaries from polycystic ovary syndrome patients.

Jansen Erik, Laven Joop S E, Dommerholt Henri B R, Polman Jan, van Rijt Cindy, van den Hurk Caroline, Westland Jolanda, Mosselman Sietse, Fauser Bart C J M
Global Business Inteligence Center, NV Organon, PO Box 20, 5340 BH Oss, The Netherlands. erik.jansen@organon.com
Mol Endocrinol. 2004 Dec;18(12):3050-63. doi: 10.1210/me.2004-0074. Epub 2004 Aug

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