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Aliases for BGN Gene

Aliases for BGN Gene

  • Biglycan 2 3 3 5
  • SLRR1A 3 4
  • PG-S1 3 4
  • Dermatan Sulphate Proteoglycan I 3
  • Bone/Cartilage Proteoglycan-I 3
  • Small Leucine-Rich Protein 1A 3
  • Bone/Cartilage Proteoglycan I 4
  • Biglycan Proteoglycan 2
  • DSPG1 3
  • SEMDX 3
  • MRLS 3
  • PGI 3

External Ids for BGN Gene

Previous GeneCards Identifiers for BGN Gene

  • GC0XP146898
  • GC0XP149215
  • GC0XP150346
  • GC0XP151228
  • GC0XP152285
  • GC0XP152413
  • GC0XP152762
  • GC0XP141428

Summaries for BGN Gene

Entrez Gene Summary for BGN 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]

GeneCards Summary for BGN Gene

BGN (Biglycan) is a Protein Coding gene. Diseases associated with BGN include Spondyloepimetaphyseal Dysplasia, X-Linked and Meester-Loeys Syndrome. Among its related pathways are Chondroitin sulfate/dermatan sulfate metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include extracellular matrix structural constituent and extracellular matrix binding. An important paralog of this gene is DCN.

UniProtKB/Swiss-Prot for BGN Gene

  • May be involved in collagen fiber assembly.

Gene Wiki entry for BGN Gene

Additional gene information for BGN Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BGN Gene

Genomics for BGN Gene

GeneHancer (GH) Regulatory Elements for BGN Gene

Promoters and enhancers for BGN Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ153493 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 650.7 +0.3 257 3 CTCF NFIB NRF1 ARID4B REST ZIC2 RAD21 ZNF335 GLIS2 POLR2A HAUS7 BGN TREX2
GH0XJ153491 Enhancer 0.9 Ensembl ENCODE dbSUPER 0.7 -3.0 -2965 1.5 BHLHE40 ZNF341 ZFP36 BCL6 PRDM10 ZIC2 RAD21 HAUS7 BGN LOC105373381
GH0XJ153487 Enhancer 1.2 Ensembl ENCODE dbSUPER 0.4 -6.5 -6473 2.4 ELF3 FOXA2 MLX ARID4B RARA CREM EGR2 HMG20B RXRA ELF1 BGN LOC105373381 HAUS7
GH0XJ153498 Enhancer 0.6 Ensembl dbSUPER 0.7 +3.8 3812 0.6 GLIS1 ZNF341 ZIC2 ZFP92 HAUS7 BGN ATP2B3
GH0XJ153507 Enhancer 1 ENCODE dbSUPER 0.4 +12.8 12809 0.2 RB1 ZSCAN4 ARID4B SIN3A KLF14 ZNF2 RAD21 ARID2 SCRT2 ZNF143 ATP2B3 BGN HAUS7
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BGN on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BGN gene promoter:
  • GR-alpha
  • GR
  • GR-beta
  • MyoD
  • NF-kappaB1

Genomic Locations for BGN Gene

Genomic Locations for BGN Gene
chrX:153,494,889-153,509,554
(GRCh38/hg38)
Size:
14,666 bases
Orientation:
Plus strand
chrX:152,760,347-152,775,012
(GRCh37/hg19)
Size:
14,666 bases
Orientation:
Plus strand

Genomic View for BGN Gene

Genes around BGN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BGN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BGN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BGN Gene

Proteins for BGN Gene

  • Protein details for BGN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P21810-PGS1_HUMAN
    Recommended name:
    Biglycan
    Protein Accession:
    P21810
    Secondary Accessions:
    • D3DWU3
    • P13247

    Protein attributes for BGN Gene

    Size:
    368 amino acids
    Molecular mass:
    41654 Da
    Quaternary structure:
    • Homodimer. Forms a ternary complex with MFAP2 and ELN (By similarity).

neXtProt entry for BGN Gene

Post-translational modifications for BGN Gene

  • The two attached glycosaminoglycan chains can be either chondroitin sulfate or dermatan sulfate.
  • Glycosylation at Asn311, posLast=270270, posLast=198198, Ser180, posLast=4747, and posLast=4242
  • Modification sites at PhosphoSitePlus

Other Protein References for BGN Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for BGN Gene

Domains & Families for BGN Gene

Gene Families for BGN Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for BGN Gene

Graphical View of Domain Structure for InterPro Entry

P21810

UniProtKB/Swiss-Prot:

PGS1_HUMAN :
  • Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class I subfamily.
Family:
  • Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class I subfamily.
genes like me logo Genes that share domains with BGN: view

Function for BGN Gene

Molecular function for BGN Gene

UniProtKB/Swiss-Prot Function:
May be involved in collagen fiber assembly.
GENATLAS Biochemistry:
biglycan (small interstitial proteoglycan),leucine-rich repeat (LRR) family

Gene Ontology (GO) - Molecular Function for BGN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004860 protein kinase inhibitor activity IBA --
GO:0005201 extracellular matrix structural constituent NAS 1860845
GO:0005515 protein binding IEA --
GO:0005539 glycosaminoglycan binding IEA --
GO:0050840 extracellular matrix binding IEA --
genes like me logo Genes that share ontologies with BGN: view
genes like me logo Genes that share phenotypes with BGN: view

Human Phenotype Ontology for BGN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for BGN Gene

MGI Knock Outs for BGN:
  • Bgn Bgn<tm1Mfy>

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for BGN Gene

Localization for BGN Gene

Subcellular locations from UniProtKB/Swiss-Prot for BGN Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BGN gene
Compartment Confidence
extracellular 5
lysosome 4
golgi apparatus 4
plasma membrane 3
cytoskeleton 2
mitochondrion 2
peroxisome 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (2)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BGN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IDA,TAS --
GO:0005615 extracellular space IEA --
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm IBA --
GO:0005796 Golgi lumen TAS --
genes like me logo Genes that share ontologies with BGN: view

Pathways & Interactions for BGN Gene

genes like me logo Genes that share pathways with BGN: view

Gene Ontology (GO) - Biological Process for BGN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001974 blood vessel remodeling IEA --
GO:0006469 negative regulation of protein kinase activity IBA --
GO:0008150 biological_process ND --
GO:0019221 cytokine-mediated signaling pathway IBA --
GO:0019800 peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan IEA --
genes like me logo Genes that share ontologies with BGN: view

No data available for SIGNOR curated interactions for BGN Gene

Drugs & Compounds for BGN Gene

(3) Drugs for BGN Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with BGN: view

Transcripts for BGN Gene

mRNA/cDNA for BGN Gene

Unigene Clusters for BGN Gene

Biglycan:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for BGN Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c · 5d ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b · 9c ^ 10a · 10b · 10c ^ 11a · 11b · 11c ^
SP1: -
SP2: - - -
SP3: - - - - - -
SP4: - - - - -
SP5: -
SP6:
SP7: - - - - - - - - - - - - - -
SP8: - - - - - - - - - -
SP9: -
SP10: - -
SP11: - - - - - - -

ExUns: 12a · 12b · 12c · 12d
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11: -

Relevant External Links for BGN Gene

GeneLoc Exon Structure for
BGN
ECgene alternative splicing isoforms for
BGN

Expression for BGN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BGN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BGN Gene

This gene is overexpressed in Artery - Aorta (x14.8), Artery - Coronary (x8.7), and Artery - Tibial (x6.3).

Protein differential expression in normal tissues from HIPED for BGN Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (16.0), Breast (10.1), Skin (7.9), Spinal cord (7.8), and Gallbladder (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for BGN Gene



Protein tissue co-expression partners for BGN Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of BGN Gene:

BGN

SOURCE GeneReport for Unigene cluster for BGN Gene:

Hs.821

mRNA Expression by UniProt/SwissProt for BGN Gene:

P21810-PGS1_HUMAN
Tissue specificity: Found in several connective tissues, especially in articular cartilages.

Evidence on tissue expression from TISSUES for BGN Gene

  • Nervous system(5)
  • Spleen(4.9)
  • Bone(4.8)
  • Skin(4.8)
  • Lung(4.7)
  • Kidney(4.6)
  • Liver(4.6)
  • Intestine(3.6)
  • Heart(3.4)
  • Muscle(3.3)
  • Pancreas(3.2)
  • Eye(2.3)
  • Gall bladder(2.3)
genes like me logo Genes that share expression patterns with BGN: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for BGN Gene

Orthologs for BGN Gene

This gene was present in the common ancestor of chordates.

Orthologs for BGN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BGN 34 33
  • 99.01 (n)
OneToOne
dog
(Canis familiaris)
Mammalia BGN 34 33
  • 91.85 (n)
OneToOne
cow
(Bos Taurus)
Mammalia BGN 34 33
  • 90.85 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 89 (a)
OneToMany
-- 34
  • 89 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Bgn 16 34 33
  • 88.59 (n)
rat
(Rattus norvegicus)
Mammalia Bgn 33
  • 88.59 (n)
lizard
(Anolis carolinensis)
Reptilia BGN 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bgn 33
  • 70.38 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.939 33
zebrafish
(Danio rerio)
Actinopterygii bgnb 34 33
  • 69.66 (n)
OneToMany
bgna 34
  • 66 (a)
OneToMany
Dr.16232 33
Species where no ortholog for BGN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BGN Gene

ENSEMBL:
Gene Tree for BGN (if available)
TreeFam:
Gene Tree for BGN (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BGN: view image

Paralogs for BGN Gene

Paralogs for BGN Gene

(5) SIMAP similar genes for BGN Gene using alignment to 2 proteins:

  • PGS1_HUMAN
  • C9JKG1_HUMAN
genes like me logo Genes that share paralogs with BGN: view

Variants for BGN Gene

Sequence variations from dbSNP and Humsavar for BGN Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs879255604 pathogenic, Spondyloepimetaphyseal dysplasia X-linked, Spondyloepimetaphyseal dysplasia, X-linked (SEMDX) [MIM:300106] 153,505,950(+) A/G coding_sequence_variant, missense_variant
rs879255605 pathogenic, Spondyloepimetaphyseal dysplasia X-linked, Spondyloepimetaphyseal dysplasia, X-linked (SEMDX) [MIM:300106] 153,507,052(+) G/T coding_sequence_variant, missense_variant
rs886037823 pathogenic, Thoracic aortic aneurysm and aortic dissection, Meester-loeys syndrome 153,504,636(+) G/A coding_sequence_variant, stop_gained
rs886037824 pathogenic, Thoracic aortic aneurysm and aortic dissection, Meester-loeys syndrome, Meester-Loeys syndrome (MRLS) [MIM:300989] 153,507,184(+) A/C coding_sequence_variant, missense_variant
rs886037825 pathogenic, Thoracic aortic aneurysm and aortic dissection, Meester-loeys syndrome, Meester-Loeys syndrome (MRLS) [MIM:300989] 153,504,869(+) G/A coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for BGN Gene

Variant ID Type Subtype PubMed ID
esv33199 CNV gain+loss 17666407
nsv522600 CNV gain 19592680

Variation tolerance for BGN Gene

Residual Variation Intolerance Score: 17.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.70; 32.33% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BGN Gene

Human Gene Mutation Database (HGMD)
BGN
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BGN

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BGN Gene

Disorders for BGN Gene

MalaCards: The human disease database

(11) MalaCards diseases for BGN Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spondyloepimetaphyseal dysplasia, x-linked
  • semdx
meester-loeys syndrome
  • mrls
renal artery atheroma
  • atherosclerosis of renal artery
achondrogenesis, type ib
  • acg1b
aortic aneurysm
  • abdominal aortic aneurysm, ruptured
- elite association - COSMIC cancer census association via MalaCards
Search BGN in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PGS1_HUMAN
  • Meester-Loeys syndrome (MRLS) [MIM:300989]: An X-linked, thoracic aortic aneurysm syndrome characterized by early-onset, severe aortic aneurysm and dissection. Other recurrent findings include hypertelorism, pectus deformity, joint hypermobility, contractures, and mild skeletal dysplasia. {ECO:0000269 PubMed:27632686}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Spondyloepimetaphyseal dysplasia, X-linked (SEMDX) [MIM:300106]: A X-linked recessive bone disease characterized by severe short-trunk dwarfism, brachydactyly, metaphyseal flaring of lower extremities, short and broad long bone diaphyses, moderate platyspondyly, normal facies, and normal intelligence. {ECO:0000269 PubMed:27236923}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for BGN

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with BGN: view

No data available for Genatlas for BGN Gene

Publications for BGN Gene

  1. Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections. (PMID: 27632686) Meester JA … Loeys BL (Genetics in medicine : official journal of the American College of Medical Genetics 2017) 3 4 58
  2. BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia. (PMID: 27236923) Cho SY … Jin DK (American journal of human genetics 2016) 3 4 58
  3. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PMID: 19453261) Yerges LM … MrOS Research Group (Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2009) 3 44 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Regulation of biglycan gene expression by transforming growth factor-beta requires MKK6-p38 mitogen-activated protein Kinase signaling downstream of Smad signaling. (PMID: 12538652) Ungefroren H … Kalthoff H (The Journal of biological chemistry 2003) 3 22 58

Products for BGN Gene

  • Boster Bio Antibodies for BGN
  • Boster Bio ELISA Kits for BGN

Sources for BGN Gene

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