Gene
BGN
biglycan
- HGNC 1044↗(opens in a new tab)
- Ensembl gene ENSG00000182492↗(opens in a new tab)
- NCBI Gene 633↗(opens in a new tab)
Summary
- Cytogenetic location
- Xq28
- Coordinates
- Chromosome X: 153,494,980–153,509,546 (GRCh38)
- Exons
- 8 exons across 14.6 kb
- Protein
- 368 amino acids
- Inheritance
- X-linked recessive
- Also known as
- DSPG1, SLRR1A
- MANE Select transcript
- ENST00000331595.9NM_001711.6
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Marfan Like Syndromes
- Meester-Loeys syndromeX-linked recessive
BGN-related aortic aneurysm and dissection with joint and skeletal features, mainly in males.
- ClinGen rates the link strong
- 3 GenCC submitters rate it definitive or strong
Inheritance
- X-linked recessive
- The change is on the X chromosome, so one copy affects males, who have one X, while females with one are usually carriers. A carrier mother passes it on to each child with a one-in-two chance.
How BGN is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 2.4 kb of the gene's 14.6 kb; 1,107 of those bases code for the protein.
How a genome test reads BGN
12
positions in BGN where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 14.6 kb of BGN, introns included, not only the 2.4 kb of exons.
Traits linked to BGN
The Human Phenotype Ontology lists these as features of the rare conditions BGN can cause. Each trait's page lists the other genes linked to it.
Abnormality of limbs
- Outward bow-leggedness
- Short fingers or toes
- Broad outermost finger bone
- Dropped arches
- Long slender fingers
- Broad shaft of long bone
- Cone-shaped distal radial epiphysis
- Cone-shaped end part of finger bones
Show 16 more traits
- Cone-shaped end part of long bone
- Coxa valga
- Delayed maturation of wrist bone
- Flat acetabular roof
- Irregular wide portion of a long bone
- Limited elbow extension
- Long fibula
- Long ulna
- Prominent styloid process of ulna
- Radial deviation of the hand
- Short finger bones
- Short foot
- Short palm
- Shortened long bone of hand
- Wide digital bones
- Wide long bones of hand
Abnormality of the musculoskeletal system
- Flattened vertebrae
- Double-Jointed
- Excessive inward curvature of lower spine
- Abnormality of the sternum
- Joint contracture
- Joint dislocation
- Anterior wedging of T11
- Anterior wedging of T12
Show 14 more traits
- Broad long bones
- Cervical spine instability
- Cone-shaped end part of long bone fused within their wide portion of wide bone
- Disproportionate short-trunked short stature
- Flared iliac wing
- Hunched back
- Hypoplasia of the odontoid process
- Narrow pelvis bone
- Permanent flexion of the finger or toe
- Pigeon chest
- Posterior rib cupping
- Short collarbone
- Short long bone
- Spondyloepimetaphyseal dysplasia
Abnormality of head or neck
- Relatively large head
- Downward slanting of the opening between the eyelids
- Zygomatic flattening
- Frontal bossing
- Gum enlargement
- High palate
- Long, narrow head
- Bifid uvula
Show 1 more trait
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). BGN gene: biglycan. Retrieved 16 October 2026, from https://dantelabs.com/genes/bgn
Dante Labs. BGN gene: biglycan [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/bgn
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