BGN

Protein identityUniProt · HPA

UniProt accession

P21810

Gene

BGN

Ensembl

ENSG00000182492

Chromosome

X

Canonical length

368 aa

Protein class

Disease related genes, Human disease related genes, Predicted secreted proteins

Subcellular location

Endoplasmic reticulum,Golgi apparatus

Secretome location

Secreted to extracellular matrix

Quaternary structure

Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

368 residues, UniProt reviewed canonical sequence.

>P21810|BGN
     1  MWPLWRLVSL LALSQALPFE QRGFWDFTLD DGPFMMNDEE ASGADTSGVL DPDSVTPTYS
    61  AMCPFGCHCH LRVVQCSDLG LKSVPKEISP DTTLLDLQNN DISELRKDDF KGLQHLYALV
   121  LVNNKISKIH EKAFSPLRKL QKLYISKNHL VEIPPNLPSS LVELRIHDNR IRKVPKGVFS
   181  GLRNMNCIEM GGNPLENSGF EPGAFDGLKL NYLRISEAKL TGIPKDLPET LNELHLDHNK
   241  IQAIELEDLL RYSKLYRLGL GHNQIRMIEN GSLSFLPTLR ELHLDNNKLA RVPSGLPDLK
   301  LLQVVYLHSN NITKVGVNDF CPMGFGVKRA YYNGISLFNN PVPYWEVQPA TFRCVTDRLA
   361  IQFGNYKK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BGN can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Secreted

Secreted

Yes

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.32

Highest tissue expression

4,111 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about BGN.

Disease | AllUniProt

Conditions BGN is implicated in, by any mechanism.

• Meester-Loeys syndrome (MRLS) MIM:300989
• Spondyloepimetaphyseal dysplasia, X-linked (SEMDX) MIM:300106

Disease | GeneticClinVar

20 pathogenic / likely-pathogenic of 486 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Meester-Loeys syndrome
• X-linked spondyloepimetaphyseal dysplasia
• Familial thoracic aortic aneurysm and aortic dissection
• Familial aortopathy

ReferencesPubMed · IEDB

Publications for BGN from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.64

gnomAD pLI

0.45

gnomAD missense Z

0.71

DepMap mean gene effect

0.05

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• articular cartilage development
• blood vessel remodeling
• bone development

Molecular functions

• cytokine binding
• extracellular matrix binding
• extracellular matrix structural constituent
• extracellular matrix structural constituent conferring compression resistance
• glycosaminoglycan binding

Cellular components

• cell surface
• extracellular exosome
• extracellular matrix
• extracellular region
• extracellular space
• Golgi lumen
• lysosomal lumen
• sarcolemma
• transport vesicle

Protein domainsUniProt · Pfam · InterPro

• Leucine-rich repeat N-terminal domain
• Leucine-rich repeat
• Leucine-rich repeat, typical subtype
• Small leucine-rich proteoglycan, class I, decorin/asporin/byglycan
• Leucine-rich repeat domain superfamily
• Small Leucine-Rich Proteoglycans
• Leucine rich repeat N-terminal domain
• Leucine rich repeat

KeywordsUniProt

• Aortic aneurysm
• Disulfide bond
• Dwarfism
• Extracellular matrix
• Glycoprotein
• Leucine-rich repeat
• Proteoglycan
• Repeat
• Secreted
• Signal