BGN

Chr X

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]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMeester-Loeys syndrome
UniProtSpondyloepimetaphyseal dysplasia, X-linked

Clinical highlights

Gene-disease validity (ClinGen)
familial thoracic aortic aneurysm and aortic dissection · ADLimitednot for standalone diagnostic reporting2 gene-disease associations curated in total
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
120
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.64
LOEUF
LOF
Mechanism· G2P
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GeneReview available — BGN
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.64LOEUF
pLI 0.452
Z-score 2.32
OE 0.20 (0.08–0.64)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.71Z-score
OE missense 0.84 (0.74–0.97)
141 obs / 166.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.20 (0.08–0.64)
0≤0.351.4
Missense OE?0.84 (0.74–0.97)
0≤0.61.4
Synonymous OE?1.12
0≤1.21.6
LoF obs/exp: 2 / 9.9Missense obs/exp: 141 / 166.9Syn Z: -0.83

ClinVar Variant Classifications

0 submitted variants in ClinVar

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.

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

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients