BGN

Chr XX-linkedXLR

biglycan

Also known as: DSPG1, MRLS, PG-S1, PGI, SEMDX, SLRR1A

NCBI Gene: 633ENSG00000182492UniProt: P21810

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]

Primary Disease Associations & Inheritance

Meester-Loeys syndromeMIM #300989
X-linked
Spondyloepimetaphyseal dysplasia, X-linkedMIM #300106
XLR
384
ClinVar variants
110
Pathogenic / LP
0.45
pLI score
0
Active trials
Clinical Summary— BGN
🧬
Gene-Disease Validity (ClinGen)
familial thoracic aortic aneurysm and aortic dissection · ADLimited

Limited evidence — not for standalone diagnostic reporting

⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.20) despite low pLI — interpret in context.
📋
ClinVar Variants
110 Pathogenic / Likely Pathogenic· 159 VUS of 384 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.64LOEUF
pLI 0.452
Z-score 2.32
OE 0.20 (0.08–0.64)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.71Z-score
OE missense 0.84 (0.74–0.97)
141 obs / 166.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.20 (0.08–0.64)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.84 (0.74–0.97)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.12
0≤1.21.6
LoF obs/exp: 2 / 9.9Missense obs/exp: 141 / 166.9Syn Z: -0.83

ClinVar Variant Classifications

384 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic97
Likely Pathogenic13
VUS159
Likely Benign103
Benign3
Conflicting9
97
Pathogenic
13
Likely Pathogenic
159
VUS
103
Likely Benign
3
Benign
9
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
1
0
96
0
97
Likely Pathogenic
7
1
5
0
13
VUS
4
127
25
3
159
Likely Benign
0
5
30
68
103
Benign
0
0
2
1
3
Conflicting
—9
Total1213315872384

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

BGN · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Gene2Phenotype Curations

BGN-related severe syndromic form of thoracic aortic aneurysm and dissection

strong
Monoallelic X HemizygousLoss Of FunctionAbsent Gene Product
Dev. Disorders
G2P ↗

BGN-related spondyloepimetaphyseal dysplasia

strong
Monoallelic X HemizygousUndeterminedAltered Gene Product Structure
Dev. Disorders
G2P ↗
missense variantinframe deletioninframe insertion

Gene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
BIGLYCAN; BGN
MIM #301870 · *

Meester-Loeys syndrome

MIM #300989

Molecular basis of disorder known

X-linked

Spondyloepimetaphyseal dysplasia, X-linked

MIM #300106

Molecular basis of disorder known

X-linked recessive
📖
GeneReview available — BGN
Authoritative clinical overview · NCBI Bookshelf · Recommended first read
Open GeneReview ↗
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Unveiling the key genes, environmental toxins, and drug exposures in modulating the severity of ulcerative colitis: a comprehensive analysis.
Wang Y et al.·Front Immunol
2023Review
Spatial and single-cell transcriptomic analysis reveals fibroblasts dependent immune environment in colorectal cancer.
Jia H et al.·Biofactors
2025
Meester-Loeys Syndrome.
Meester JAN et al.·Adv Exp Med Biol
2021
Integrative genomics unveils basement membrane-related diagnostic markers and therapeutic targets in esophageal squamous cell carcinoma.
Zhang H et al.·Biol Direct
2024
Exosomal Biglycan promotes gastric cancer progression via M2 polarization and CXCL10-mediated JAK/STAT1 activation.
Li W et al.·Cancer Lett
2025
Transcriptomic Signatures in Colorectal Cancer Progression.
Ershov P et al.·Curr Mol Med
2023Review
Expression and prognostic analysis of BGN in head and neck squamous cell carcinoma.
Zhao L et al.·Gene
2022
Biglycan-driven risk stratification in ZFTA-RELA fusion supratentorial ependymomas through transcriptome profiling.
Okonechnikov K et al.·Acta Neuropathol Commun
2025
Identification of BGN and THBS2 as metastasis-specific biomarkers and poor survival key regulators in human colon cancer by integrated analysis.
He Z et al.·Clin Transl Med
2022
Enhancer-mediated NR2F2 recruitment activates BGN to promote tumor growth and shape tumor microenvironment in papillary thyroid cancer.
Tao M et al.·Theranostics
2026
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools