Human Gene BGN (ENST00000331595.9_5) from GENCODE V47lift37
  Description: biglycan (from RefSeq NM_001711.6)
Gencode Transcript: ENST00000331595.9_5
Gencode Gene: ENSG00000182492.16_8
Transcript (Including UTRs)
   Position: hg19 chrX:152,760,438-152,775,004 Size: 14,567 Total Exon Count: 8 Strand: +
Coding Region
   Position: hg19 chrX:152,770,090-152,773,903 Size: 3,814 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:152,760,438-152,775,004)mRNA (may differ from genome)Protein (368 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PGS1_HUMAN
DESCRIPTION: RecName: Full=Biglycan; AltName: Full=Bone/cartilage proteoglycan I; AltName: Full=PG-S1; Flags: Precursor;
FUNCTION: May be involved in collagen fiber assembly (By similarity).
SUBUNIT: Homodimer. Forms a ternary complex with MFAP2 and ELN (By similarity).
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix (By similarity).
TISSUE SPECIFICITY: Found in several connective tissues, especially in articular cartilages.
PTM: The two attached glycosaminoglycan chains can be either chondroitin sulfate or dermatan sulfate (By similarity).
SIMILARITY: Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class I subfamily.
SIMILARITY: Contains 12 LRR (leucine-rich) repeats.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: BGN
Diseases sorted by gene-association score: spondyloepimetaphyseal dysplasia, x-linked* (1579), meester-loeys syndrome* (929), thoracic aortic aneurysms and aortic dissections* (126), spondyloepimetaphyseal dysplasia (21), renal artery atheroma (11), achondrogenesis ib (7), exposure keratitis (7), corneal dystrophy, congenital stromal (6), dental pulp calcification (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 2628.48 RPKM in Artery - Aorta
Total median expression: 9003.92 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -38.30145-0.264 Picture PostScript Text
3' UTR -370.901101-0.337 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001611 - Leu-rich_rpt
IPR000372 - LRR-contain_N
IPR016352 - SLRP_I_decor/aspor/byglycan

Pfam Domains:
PF01462 - Leucine rich repeat N-terminal domain
PF13306 - BspA type Leucine rich repeat region (6 copies)
PF13855 - Leucine rich repeat

SCOP Domains:
52047 - RNI-like
52058 - L domain-like
52075 - Outer arm dynein light chain 1

ModBase Predicted Comparative 3D Structure on P21810
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004860 protein kinase inhibitor activity
GO:0005201 extracellular matrix structural constituent
GO:0005539 glycosaminoglycan binding
GO:0050840 extracellular matrix binding

Biological Process:
GO:0001974 blood vessel remodeling
GO:0006469 negative regulation of protein kinase activity
GO:0008150 biological_process
GO:0019221 cytokine-mediated signaling pathway
GO:0019800 peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan
GO:0030198 extracellular matrix organization
GO:0030206 chondroitin sulfate biosynthetic process
GO:0030207 chondroitin sulfate catabolic process
GO:0030208 dermatan sulfate biosynthetic process
GO:0046426 negative regulation of JAK-STAT cascade

Cellular Component:
GO:0005576 extracellular region
GO:0005622 intracellular
GO:0005737 cytoplasm
GO:0005796 Golgi lumen
GO:0009986 cell surface
GO:0030133 transport vesicle
GO:0031012 extracellular matrix
GO:0042383 sarcolemma
GO:0043202 lysosomal lumen
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  LF211520 - JP 2014500723-A/19023: Polycomb-Associated Non-Coding RNAs.
AK293289 - Homo sapiens cDNA FLJ55187 complete cds, highly similar to Biglycan precursor.
AK293268 - Homo sapiens cDNA FLJ59839 complete cds, highly similar to Homo sapiens biglycan (BGN), mRNA.
AK291955 - Homo sapiens cDNA FLJ76911 complete cds, highly similar to Homo sapiens biglycan (BGN), mRNA.
AK222484 - Homo sapiens mRNA for biglycan preproprotein variant, clone: adKA02448.
AK297966 - Homo sapiens cDNA FLJ59360 complete cds, moderately similar to Biglycan precursor.
AK092954 - Homo sapiens cDNA FLJ35635 fis, clone SPLEN2011805, highly similar to BONE/CARTILAGE PROTEOGLYCAN I PRECURSOR.
AX747825 - Sequence 1350 from Patent EP1308459.
AK093023 - Homo sapiens cDNA FLJ35704 fis, clone SPLEN2020183, highly similar to Biglycan precursor.
AX747863 - Sequence 1388 from Patent EP1308459.
JD360685 - Sequence 341709 from Patent EP1572962.
BC002416 - Homo sapiens biglycan, mRNA (cDNA clone MGC:2298 IMAGE:3162633), complete cds.
BC004244 - Homo sapiens biglycan, mRNA (cDNA clone MGC:10461 IMAGE:3503374), complete cds.
J04599 - Human hPGI mRNA encoding bone small proteoglycan I (biglycan), complete cds.
AK223302 - Homo sapiens mRNA for biglycan preproprotein variant, clone: SYN09117.
JD115798 - Sequence 96822 from Patent EP1572962.
AK094059 - Homo sapiens cDNA FLJ36740 fis, clone UTERU2013322, highly similar to Biglycan precursor.
DQ895084 - Synthetic construct Homo sapiens clone IMAGE:100009544; FLH181228.01L; RZPDo839B03135D biglycan (BGN) gene, encodes complete protein.
DQ891898 - Synthetic construct clone IMAGE:100004528; FLH181232.01X; RZPDo839B03136D biglycan (BGN) gene, encodes complete protein.
AB463441 - Synthetic construct DNA, clone: pF1KB8314, Homo sapiens BGN gene for biglycan, without stop codon, in Flexi system.
AM392603 - Synthetic construct Homo sapiens clone IMAGE:100002042 for hypothetical protein (BGN gene).
AM393683 - Synthetic construct Homo sapiens clone IMAGE:100002038 for hypothetical protein (BGN gene).
CU678628 - Synthetic construct Homo sapiens gateway clone IMAGE:100019105 5' read BGN mRNA.
KJ896495 - Synthetic construct Homo sapiens clone ccsbBroadEn_05889 BGN gene, encodes complete protein.
BT007323 - Homo sapiens biglycan mRNA, complete cds.
AK298756 - Homo sapiens cDNA FLJ59955 complete cds, moderately similar to Biglycan precursor.
LF380691 - JP 2014500723-A/188194: Polycomb-Associated Non-Coding RNAs.
LF380693 - JP 2014500723-A/188196: Polycomb-Associated Non-Coding RNAs.
LF380694 - JP 2014500723-A/188197: Polycomb-Associated Non-Coding RNAs.
LF380696 - JP 2014500723-A/188199: Polycomb-Associated Non-Coding RNAs.
LF380697 - JP 2014500723-A/188200: Polycomb-Associated Non-Coding RNAs.
LF380698 - JP 2014500723-A/188201: Polycomb-Associated Non-Coding RNAs.
LF380700 - JP 2014500723-A/188203: Polycomb-Associated Non-Coding RNAs.
LF380703 - JP 2014500723-A/188206: Polycomb-Associated Non-Coding RNAs.
U11686 - Human biglycan BGN mRNA, partial cds and 3'UTR.
JD095532 - Sequence 76556 from Patent EP1572962.
JD334417 - Sequence 315441 from Patent EP1572962.
LF380705 - JP 2014500723-A/188208: Polycomb-Associated Non-Coding RNAs.
JD334597 - Sequence 315621 from Patent EP1572962.
JD438561 - Sequence 419585 from Patent EP1572962.
JD155288 - Sequence 136312 from Patent EP1572962.
JD278816 - Sequence 259840 from Patent EP1572962.
JD484091 - Sequence 465115 from Patent EP1572962.
JD310631 - Sequence 291655 from Patent EP1572962.
LF380707 - JP 2014500723-A/188210: Polycomb-Associated Non-Coding RNAs.
JD379317 - Sequence 360341 from Patent EP1572962.
JD518719 - Sequence 499743 from Patent EP1572962.
JD409457 - Sequence 390481 from Patent EP1572962.
JD051801 - Sequence 32825 from Patent EP1572962.
JD479776 - Sequence 460800 from Patent EP1572962.
JD550041 - Sequence 531065 from Patent EP1572962.
LF380709 - JP 2014500723-A/188212: Polycomb-Associated Non-Coding RNAs.
JD522174 - Sequence 503198 from Patent EP1572962.
JD402820 - Sequence 383844 from Patent EP1572962.
JD528104 - Sequence 509128 from Patent EP1572962.
JD414078 - Sequence 395102 from Patent EP1572962.
JD152022 - Sequence 133046 from Patent EP1572962.
JD403711 - Sequence 384735 from Patent EP1572962.
JD287467 - Sequence 268491 from Patent EP1572962.
JD114778 - Sequence 95802 from Patent EP1572962.
JD548448 - Sequence 529472 from Patent EP1572962.
JD191577 - Sequence 172601 from Patent EP1572962.
LF380714 - JP 2014500723-A/188217: Polycomb-Associated Non-Coding RNAs.
JD280488 - Sequence 261512 from Patent EP1572962.
JD547243 - Sequence 528267 from Patent EP1572962.
JD344788 - Sequence 325812 from Patent EP1572962.
JD056194 - Sequence 37218 from Patent EP1572962.
JD390377 - Sequence 371401 from Patent EP1572962.
JD276077 - Sequence 257101 from Patent EP1572962.
JD146349 - Sequence 127373 from Patent EP1572962.
LF380715 - JP 2014500723-A/188218: Polycomb-Associated Non-Coding RNAs.
MA447097 - JP 2018138019-A/19023: Polycomb-Associated Non-Coding RNAs.
MA616268 - JP 2018138019-A/188194: Polycomb-Associated Non-Coding RNAs.
MA616270 - JP 2018138019-A/188196: Polycomb-Associated Non-Coding RNAs.
MA616271 - JP 2018138019-A/188197: Polycomb-Associated Non-Coding RNAs.
MA616273 - JP 2018138019-A/188199: Polycomb-Associated Non-Coding RNAs.
MA616274 - JP 2018138019-A/188200: Polycomb-Associated Non-Coding RNAs.
MA616275 - JP 2018138019-A/188201: Polycomb-Associated Non-Coding RNAs.
MA616277 - JP 2018138019-A/188203: Polycomb-Associated Non-Coding RNAs.
MA616280 - JP 2018138019-A/188206: Polycomb-Associated Non-Coding RNAs.
MA616282 - JP 2018138019-A/188208: Polycomb-Associated Non-Coding RNAs.
MA616284 - JP 2018138019-A/188210: Polycomb-Associated Non-Coding RNAs.
MA616286 - JP 2018138019-A/188212: Polycomb-Associated Non-Coding RNAs.
MA616291 - JP 2018138019-A/188217: Polycomb-Associated Non-Coding RNAs.
MA616292 - JP 2018138019-A/188218: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_slrpPathway - Small Leucine-rich Proteoglycan (SLRP) molecules

Reactome (by CSHL, EBI, and GO)

Protein P21810 (Reactome details) participates in the following event(s):

R-HSA-1889955 B3GATs transfer GlcA to tetrasaccharide linker
R-HSA-1889978 B3GALT6 transfers Gal to the tetrasaccharide linker
R-HSA-2466106 BGN binds Collagen types I, VI, (IX)
R-HSA-2466238 BGN binds Collagen types II, III
R-HSA-1889981 B4GALT7 transfers Gal group to xylosyl-unit of the tetrasaccharide linker
R-HSA-1878002 XYLTs transfer Xyl to core protein
R-HSA-1971491 CHPF,CHPF2,CHSY1,CHSY3 transfer GlcA to chondroitin
R-HSA-1971482 The addition of GalNAc to the terminal glucuronate residue forms chondroitin
R-HSA-1971487 CHPF,CHSY1,CHSY3 transfer GalNAc to chondroitin
R-HSA-1971483 Chondroitin can be sulfated on position 4 of GalNAc by CHST9, 11, 12 and 13
R-HSA-2018682 CHST3,7 transfer SO4(2-) to position 6 of GalNAc on chondroitin chains
R-HSA-2018659 Chondroitin 4-sulfate (C4S) can be further sulfated on position 6 by CHST15
R-HSA-2022061 Dermatan sulfate can be further sulfated on position 2 of iduronate
R-HSA-2327886 SLRPs bind TGF Beta
R-NUL-2466133 SLRPs bind TGF beta
R-HSA-2022052 Dermatan-sulfate epimerase (DSE) converts chondroitin sulfate (CS) to dermatan sulfate (DS)
R-HSA-2022063 CHST14 transfers SO4(2-) to GalNAc in dermatan or DS
R-HSA-1971475 A tetrasaccharide linker sequence is required for GAG synthesis
R-HSA-3560801 Defective B3GAT3 causes JDSSDHD
R-HSA-3000178 ECM proteoglycans
R-HSA-3560783 Defective B4GALT7 causes EDS, progeroid type
R-HSA-2022870 Chondroitin sulfate biosynthesis
R-HSA-3595177 Defective CHSY1 causes TPBS
R-HSA-4420332 Defective B3GALT6 causes EDSP2 and SEMDJL1
R-HSA-3595172 Defective CHST3 causes SEDCJD
R-HSA-2022923 Dermatan sulfate biosynthesis
R-HSA-2024101 CS/DS degradation
R-HSA-1638091 Heparan sulfate/heparin (HS-GAG) metabolism
R-HSA-1793185 Chondroitin sulfate/dermatan sulfate metabolism
R-HSA-3560782 Diseases associated with glycosaminoglycan metabolism
R-HSA-1474244 Extracellular matrix organization
R-HSA-3595174 Defective CHST14 causes EDS, musculocontractural type
R-HSA-1630316 Glycosaminoglycan metabolism
R-HSA-3781865 Diseases of glycosylation
R-HSA-71387 Metabolism of carbohydrates
R-HSA-1643685 Disease
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: D3DWU3, ENST00000331595.1, ENST00000331595.2, ENST00000331595.3, ENST00000331595.4, ENST00000331595.5, ENST00000331595.6, ENST00000331595.7, ENST00000331595.8, NM_001711, P13247, P21810, PGS1_HUMAN, SLRR1A, uc317tgl.1, uc317tgl.2
UCSC ID: ENST00000331595.9_5
RefSeq Accession: NM_001711.6
Protein: P21810 (aka PGS1_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene BGN:
taa (Heritable Thoracic Aortic Disease Overview)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.