BGN (Biglycan) Gene
A small leucine-rich proteoglycan involved in extracellular matrix organization, bone development, and tumor progression.
Gene Information Card
| Symbol | BGN |
|---|---|
| Full Name | Biglycan |
| Gene Type | Protein coding |
| Chromosomal Location | Xq28 |
| NCBI Gene ID | 633 ncbi.nlm.nih.gov/gene/633 |
| Ensembl ID | ENSG00000182492 |
| UniProt ID | P21810 |
| OMIM ID | 301870 |
| HGNC ID | 1044 |
| Aliases | PG-S1, DSPG1, SLRR1A |
Description
The BGN gene encodes biglycan, a small leucine-rich proteoglycan (SLRP) that is a component of the extracellular matrix. Biglycan interacts with collagen fibrils, growth factors (e.g., TGF-β, BMP), and cytokines, playing roles in bone mineralization, connective tissue integrity, and inflammation. Mutations in BGN are associated with X-linked spondyloepimetaphyseal dysplasia (SEMD) and Meester-Loeys syndrome. Altered expression is observed in various cancers and fibrotic diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| X-linked spondyloepimetaphyseal dysplasia (SEMD) | Loss-of-function mutations in BGN disrupt collagen fibrillogenesis and bone matrix organization, leading to skeletal dysplasia. | OMIM #300106 |
| Meester-Loeys syndrome | Missense mutations in BGN impair TGF-β signaling regulation, causing aortic aneurysm, skeletal abnormalities, and craniofacial defects. | OMIM #300989 |
| Osteoarthritis | Reduced biglycan expression in cartilage leads to altered collagen network and increased susceptibility to degeneration. | NCBI Gene, PubMed |
| Cancer (e.g., breast, pancreatic) | Biglycan overexpression in tumor stroma promotes tumor growth, angiogenesis, and metastasis via TGF-β and integrin signaling. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone | 12.5 | Medium |
| Cartilage | 15.2 | Medium |
| Heart | 8.3 | Low |
| Lung | 6.1 | Low |
| Liver | 2.4 | Not detected |
| Kidney | 4.7 | Low |
| Skeletal muscle | 3.1 | Low |
| Adipose tissue | 9.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Osteoblasts (hFOB 1.19) | 18.5 | High expression; key role in bone matrix formation |
| Chondrocytes (C28/I2) | 22.1 | High expression; essential for cartilage ECM |
| Fibroblasts (HFF-1) | 14.3 | Medium expression; involved in connective tissue |
| Breast cancer (MCF-7) | 7.2 | Low expression; downregulated in some tumors |
| Pancreatic cancer (PANC-1) | 11.0 | Medium expression; associated with stromal response |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon; predicted loss of function; associated with SEMD |
| c.205C>T (p.Arg69Cys) | Missense | Rare | Dominant negative effect; disrupts TGF-β binding; Meester-Loeys syndrome |
| c.377G>A (p.Gly126Asp) | Missense | Rare | Alters leucine-rich repeat structure; SEMD |
| c.503G>A (p.Trp168*) | Nonsense | Rare | Premature stop; loss of function; SEMD |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations (e.g., p.Met1?, p.Trp168*) lead to truncated or absent biglycan, causing SEMD via defective collagen organization.
Gain of Function (GOF)
Not well documented; overexpression in cancer stroma may act as a gain-of-function in tumor microenvironment.
Dominant Negative (DN)
Missense mutations such as p.Arg69Cys in Meester-Loeys syndrome produce a mutant biglycan that interferes with TGF-β signaling, acting in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
Pathways
• TGF-beta signaling pathway (Reactome: R-HSA-170834)
• Extracellular matrix organization (Reactome: R-HSA-1474244)
• Collagen formation (Reactome: R-HSA-1474290)
• Degradation of the extracellular matrix (Reactome: R-HSA-1474228)
Protein Summary
Biglycan is a 368-amino acid proteoglycan with a core protein containing leucine-rich repeats (LRRs) and two glycosaminoglycan (GAG) chains (chondroitin sulfate/dermatan sulfate). It is secreted into the extracellular matrix where it binds collagen types I, II, III, and VI, regulating fibril diameter and organization. Biglycan also sequesters TGF-β and BMPs, modulating growth factor signaling. In bone, it is critical for mineralization; in blood vessels, it maintains aortic wall integrity. Post-translational modifications include GAG attachment at Ser42 and Ser47.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BGN Knockout HEK293 Cell Line | EDJ-KQ2119 | Human | 633 | Details Get a Quote |
| BGN Knockout HeLa Cell Line | EDJ-KQ23632 | Human | 633 | Details Get a Quote |
| BGN Knockout A-549 Cell Line | EDJ-KQ61189 | Human | 633 | Details Get a Quote |
| BGN Knockout HCT 116 Cell Line | EDJ-KQ69681 | Human | 633 | Details Get a Quote |
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