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    BGN biglycan [ Homo sapiens (human) ]

    Gene ID: 633, updated on 14-Nov-2024

    Summary

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    Official Symbol
    BGNprovided by HGNC
    Official Full Name
    biglycanprovided by HGNC
    Primary source
    HGNC:HGNC:1044
    See related
    Ensembl:ENSG00000182492 MIM:301870; AllianceGenome:HGNC:1044
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PGI; MRLS; DSPG1; PG-S1; SEMDX; SLRR1A
    Summary
    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]
    Expression
    Broad expression in gall bladder (RPKM 206.5), spleen (RPKM 159.3) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See BGN in Genome Data Viewer
    Location:
    Xq28
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (153494980..153509546)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (151768553..151783109)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (152760438..152775004)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene three prime repair exonuclease 2 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:152726424-152726582 Neighboring gene HAUS augmin like complex subunit 7 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30033 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30034 Neighboring gene Sharpr-MPRA regulatory region 9358 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:152741433-152741972 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:152742168-152742668 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:152742669-152743169 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:152753877-152754691 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:152756808-152757380 Neighboring gene extracellular matrix protein X-linked, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30035 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30036 Neighboring gene ATPase plasma membrane Ca2+ transporting 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:152809330-152810182 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:152825847-152826631 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:152831014-152831626 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21064 Neighboring gene cyclin Q

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Long noncoding RNA ZEB1-AS1 attenuates ferroptosis of gastric cancer cells through modulating miR-429/BGN axis.
      Title: Long noncoding RNA ZEB1-AS1 attenuates ferroptosis of gastric cancer cells through modulating miR-429/BGN axis.
    2. Stroma biglycan expression can be a prognostic factor in prostate cancers.
      Title: Stroma biglycan expression can be a prognostic factor in prostate cancers.
    3. Biglycan promotes hepatic fibrosis through activating heat shock protein 47.
      Title: Biglycan promotes hepatic fibrosis through activating heat shock protein 47.
    4. Identification of BGN and THBS2 as metastasis-specific biomarkers and poor survival key regulators in human colon cancer by integrated analysis.
      Title: Identification of BGN and THBS2 as metastasis-specific biomarkers and poor survival key regulators in human colon cancer by integrated analysis.
    5. Expression and prognostic analysis of BGN in head and neck squamous cell carcinoma.
      Title: Expression and prognostic analysis of BGN in head and neck squamous cell carcinoma.
    6. Identification of Differentially Expressed Genes Reveals BGN Predicting Overall Survival and Tumor Immune Infiltration of Gastric Cancer.
      Title: Identification of Differentially Expressed Genes Reveals BGN Predicting Overall Survival and Tumor Immune Infiltration of Gastric Cancer.
    7. Proteoglycan Remodeling Is Accelerated in Females with Angina Pectoris and Diffuse Myocardial Fibrosis: the iPOWER Study.
      Title: Proteoglycan Remodeling Is Accelerated in Females with Angina Pectoris and Diffuse Myocardial Fibrosis: the iPOWER Study.
    8. Biglycan: an emerging small leucine-rich proteoglycan (SLRP) marker and its clinicopathological significance.
      Title: Biglycan: an emerging small leucine-rich proteoglycan (SLRP) marker and its clinicopathological significance.
    9. Identification of a novel miR-21-3p/TGF-beta signaling-driven immune escape via the MHC class I/biglycan axis in tumor cells.
      Title: Identification of a novel miR-21-3p/TGF-β signaling-driven immune escape via the MHC class I/biglycan axis in tumor cells.
    10. Inhibition of stromal biglycan promotes normalization of the tumor microenvironment and enhances chemotherapeutic efficacy.
      Title: Inhibition of stromal biglycan promotes normalization of the tumor microenvironment and enhances chemotherapeutic efficacy.
    Submit: New GeneRIF Correction See all GeneRIFs (101)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Meester-Loeys syndrome
    MedGen: C4310811 OMIM: 300989 GeneReviews: Heritable Thoracic Aortic Disease Overview
    		not available
    X-linked spondyloepimetaphyseal dysplasia
    MedGen: C1848097 OMIM: 300106 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cytokine binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables extracellular matrix binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables extracellular matrix structural constituent NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables extracellular matrix structural constituent conferring compression resistance ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables extracellular matrix structural constituent conferring compression resistance RCA
    inferred from Reviewed Computational Analysis
    more info
    		 PubMed 
    enables glycosaminoglycan binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in articular cartilage development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in bone development IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    colocalizes_with collagen-containing extracellular matrix HDA PubMed 
    located_in collagen-containing extracellular matrix HDA PubMed 
    colocalizes_with collagen-containing extracellular matrix ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in extracellular matrix NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in extracellular region HDA PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in lysosomal lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in sarcolemma IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in transport vesicle IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    biglycan
    Names
    bone/cartilage proteoglycan-I
    dermatan sulphate proteoglycan I
    small leucine-rich protein 1A

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_015961.1 RefSeqGene

      Range
      5028..19594
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001711.6 → NP_001702.1  biglycan preproprotein

      See identical proteins and their annotated locations for NP_001702.1

      Status: REVIEWED

      Source sequence(s)
      AI538325, AK297966, BC002416, BQ180984, DC299956
      Consensus CDS
      CCDS14721.1
      UniProtKB/Swiss-Prot
      D3DWU3, P13247, P21810
      UniProtKB/TrEMBL
      A8K7E0, Q53FI4
      Related
      ENSP00000327336.4, ENST00000331595.9
      Conserved Domains (4) summary
      sd00031
      Location:302 → 315
      LRR_1; leucine-rich repeat [structural motif]
      sd00033
      Location:71 → 91
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:277 → 323
      LRR_8; Leucine rich repeat
      cl26018
      Location:64 → 297
      NEL; C-terminal novel E3 ligase, LRR-interacting

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      153494980..153509546
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017029724.3 → XP_016885213.1  biglycan isoform X1

      UniProtKB/Swiss-Prot
      D3DWU3, P13247, P21810
      UniProtKB/TrEMBL
      A8K7E0, Q53FI4
      Conserved Domains (4) summary
      sd00031
      Location:302 → 315
      LRR_1; leucine-rich repeat [structural motif]
      sd00033
      Location:71 → 91
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:277 → 323
      LRR_8; Leucine rich repeat
      cl26018
      Location:64 → 297
      NEL; C-terminal novel E3 ligase, LRR-interacting

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      151768553..151783109
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327563.1 → XP_054183538.1  biglycan isoform X1

      UniProtKB/Swiss-Prot
      D3DWU3, P13247, P21810
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P21810.2 GenPept UniProtKB/Swiss-Prot:P21810

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