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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
BGN
biglycan
Chromosome X Β· Xq28
NCBI Gene: 633Ensembl: ENSG00000182492.17HGNC: HGNC:1044UniProt: B4DNL4
167PubMed Papers
22Diseases
0Drugs
19Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
extracellular regionextracellular matrixprotein bindingextracellular exosomeX-linked spondyloepimetaphyseal dysplasiaMeester-Loeys syndromefamilial thoracic aortic aneurysm and aortic dissectionRare disease with thoracic aortic aneurysm and aortic dissection
✦AI Summary

Biglycan (BGN) is an extracellular matrix proteoglycan with multifaceted biological roles. As a small leucine-rich repeat proteoglycan, BGN functions as a structural component of the extracellular matrix and is involved in collagen fiber assembly and elastic fiber organization 1. BGN exhibits glycosaminoglycan binding capacity and contributes to matrix structural properties, particularly compression resistance 1. Beyond structural functions, BGN participates in cell signaling and immune regulation. In prostate cancer, BGN is secreted as a key factor regulating myeloid-derived suppressor cell (MDSC) migration through coordinated translational regulation via the MNK/eIF4E and Akt/mTOR pathways 2. BGN expression is associated with accelerated aging phenotypes, linked to age-related diseases through pro-inflammatory NF-ΞΊB pathway activation 3. In colorectal cancer, BGN serves as a fibroblast-associated prognostic biomarker; knockdown of BGN significantly impairs cancer cell proliferation, migration, and invasion 4. Similarly, in esophageal squamous cell carcinoma, BGN knockdown suppresses proliferation and migration while enhancing chemotherapy response 5. BGN mutations cause rare genetic disorders including Meester-Loeys syndrome and X-linked spondyloepimetaphyseal dysplasia, reflecting its critical role in connective tissue integrity. These findings position BGN as both a structural matrix component and an immunomodulatory factor with therapeutic potential in cancer and age-related diseases.

Sources cited
1
BGN is a small leucine-rich repeat proteoglycan family member with extracellular matrix structural functions
PMID: 8298253
2
BGN is secreted by prostate cancer cells and functions as a key factor regulating MDSC migration through MNK/eIF4E and Akt/mTOR translational pathways
PMID: 37460872
3
BGN is an age-related protein linked to social disadvantage and accelerated aging through NF-ΞΊB pro-inflammatory pathway activation
PMID: 40087516
4
BGN is a fibroblast-associated prognostic biomarker in colorectal cancer; BGN knockdown impairs cancer cell proliferation, migration, and invasion
PMID: 40068177
5
BGN knockdown in esophageal squamous cell carcinoma suppresses cell proliferation and migration while augmenting chemotherapy drug response
PMID: 39256753
Disease Associationsβ“˜22
X-linked spondyloepimetaphyseal dysplasiaOpen Targets
0.76Strong
Meester-Loeys syndromeOpen Targets
0.67Moderate
familial thoracic aortic aneurysm and aortic dissectionOpen Targets
0.63Moderate
Rare disease with thoracic aortic aneurysm and aortic dissectionOpen Targets
0.45Moderate
spondyloepimetaphyseal dysplasiaOpen Targets
0.37Weak
Familial hemophagocytic lymphohistiocytosisOpen Targets
0.27Weak
alopeciaOpen Targets
0.20Weak
Abnormality of the cardiovascular systemOpen Targets
0.19Weak
neoplasmOpen Targets
0.12Weak
gastric cancerOpen Targets
0.11Weak
colorectal carcinomaOpen Targets
0.11Weak
cancerOpen Targets
0.09Suggestive
breast cancerOpen Targets
0.09Suggestive
esophageal squamous cell carcinomaOpen Targets
0.09Suggestive
osteosarcomaOpen Targets
0.09Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.08Suggestive
triple-negative breast cancerOpen Targets
0.08Suggestive
melanomaOpen Targets
0.08Suggestive
papillary thyroid carcinomaOpen Targets
0.08Suggestive
myelodysplastic syndromeOpen Targets
0.07Suggestive
Meester-Loeys syndromeUniProt
Spondyloepimetaphyseal dysplasia, X-linkedUniProt
Pathogenic Variants19
NM_001711.6(BGN):c.770+1G>ALikely pathogenic
not provided|Meester-Loeys syndrome
β˜…β˜…β˜†β˜†2024
NM_001711.6(BGN):c.223C>T (p.Gln75Ter)Pathogenic
Meester-Loeys syndrome|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 75
NM_001711.6(BGN):c.59_60insAA (p.Gln21fs)Likely pathogenic
not provided|Meester-Loeys syndrome
β˜…β˜…β˜†β˜†2023β†’ Residue 21
NM_001711.6(BGN):c.75G>A (p.Trp25Ter)Likely pathogenic
Familial aortopathy|Meester-Loeys syndrome
β˜…β˜…β˜†β˜†2023β†’ Residue 25
NM_001711.6(BGN):c.622del (p.Gly207_Leu208insTer)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 207
NM_001711.6(BGN):c.351+1G>TLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_001711.6(BGN):c.440dup (p.Asn148fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 148
NM_001711.6(BGN):c.776G>T (p.Gly259Val)Likely pathogenic
X-linked spondyloepimetaphyseal dysplasia|not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 259
NM_001711.6(BGN):c.46del (p.Ala16fs)Likely pathogenic
Meester-Loeys syndrome
β˜…β˜†β˜†β˜†2023β†’ Residue 16
NM_001711.6(BGN):c.910-1G>ALikely pathogenic
Meester-Loeys syndrome
β˜…β˜†β˜†β˜†2023
NM_001711.6(BGN):c.677-2A>GLikely pathogenic
Meester-Loeys syndrome
β˜…β˜†β˜†β˜†2023
NM_001711.6(BGN):c.677-2A>TLikely pathogenic
Meester-Loeys syndrome
β˜…β˜†β˜†β˜†2023
NM_001711.6(BGN):c.461del (p.Pro154fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 154
NM_001711.6(BGN):c.441G>C (p.Lys147Asn)Likely pathogenic
X-linked spondyloepimetaphyseal dysplasia
β˜…β˜†β˜†β˜†2022β†’ Residue 147
NM_001711.6(BGN):c.5G>A (p.Trp2Ter)Likely pathogenic
Familial thoracic aortic aneurysm and aortic dissection|Meester-Loeys syndrome
β˜…β˜†β˜†β˜†2021β†’ Residue 2
NM_001711.6(BGN):c.41del (p.Ser14fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2018β†’ Residue 14
BGN, 21-KB DEL (SCV000266570)Pathogenic
Familial thoracic aortic aneurysm and aortic dissection|Meester-Loeys syndrome
β˜†β˜†β˜†β˜†2017
NM_001711.6(BGN):c.439A>G (p.Lys147Glu)Pathogenic
X-linked spondyloepimetaphyseal dysplasia
β˜†β˜†β˜†β˜†2016β†’ Residue 147
Single allelePathogenic
Familial thoracic aortic aneurysm and aortic dissection
β˜†β˜†β˜†β˜†
View on ClinVar β†—
Related Genes
TGFB1Protein interaction100%BMP4Protein interaction100%BMP2Protein interaction100%LY96Protein interaction100%FN1Protein interaction100%DAG1Protein interaction100%
Tissue Expression6 tissues
Heart
100%
Liver
78%
Lung
65%
Ovary
14%
Brain
12%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
BGNTGFB1BMP4BMP2LY96FN1DAG1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P21810
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.59Moderately Constrained
pLIβ“˜
0.88Intermediate
Observed/Expected LoF0.30 [0.16–0.59]
RankingsWhere BGN stands among ~20K protein-coding genes
  • #2,668of 20,598
    Most Researched167 Β· top quartile
  • #2,225of 5,498
    Most Pathogenic Variants19
  • #4,026of 17,882
    Most Constrained (LOEUF)0.59 Β· top quartile
Genes detectedBGN
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Lipoprotein(a) in atherosclerotic cardiovascular disease and aortic stenosis: a European Atherosclerosis Society consensus statement.
PMID: 36036785
Eur Heart J Β· 2022
1.00
2
Neurovascularization inhibiting dual responsive hydrogel for alleviating the progression of osteoarthritis.
PMID: 39910066
Nat Commun Β· 2025
0.90
3
Frequent questions and responses on the 2022 lipoprotein(a) consensus statement of the European Atherosclerosis Society.
PMID: 37188555
Atherosclerosis Β· 2023
0.80
4
Resistance training rejuvenates aging skin by reducing circulating inflammatory factors and enhancing dermal extracellular matrices.
PMID: 37353523
Sci Rep Β· 2023
0.72
5
Social disadvantage accelerates aging.
PMID: 40087516
Nat Med Β· 2025
0.70