Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
633
Gene name Gene Name - the full gene name approved by the HGNC.
Biglycan
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BGN
Synonyms (NCBI Gene) Gene synonyms aliases
DSPG1, MRLS, PG-S1, PGI, SEMDX, SLRR1A
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MRLS, SEMDX
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq28
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs879255604 A>G Pathogenic Missense variant, coding sequence variant
rs879255605 G>T Pathogenic Missense variant, coding sequence variant
rs886037823 G>A Pathogenic Stop gained, coding sequence variant
rs886037824 A>C Pathogenic Missense variant, coding sequence variant
rs886037825 G>A Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT614284 hsa-miR-4311 HITS-CLIP 23824327
MIRT607442 hsa-miR-8485 HITS-CLIP 23824327
MIRT614284 hsa-miR-4311 HITS-CLIP 23824327
MIRT607442 hsa-miR-8485 HITS-CLIP 23824327
MIRT614284 hsa-miR-4311 HITS-CLIP 23824327
Transcription factors
Transcription factor Regulation Reference
NFKB1 Activation 15536164
RELA Activation 15536164
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001974 Process Blood vessel remodeling IEA
GO:0005201 Function Extracellular matrix structural constituent NAS 1860845
GO:0005515 Function Protein binding IPI 11598131, 32814053
GO:0005539 Function Glycosaminoglycan binding IEA
GO:0005576 Component Extracellular region HDA 27068509
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
301870 1044 ENSG00000182492
Protein
UniProt ID P21810
Protein name Biglycan (Bone/cartilage proteoglycan I) (PG-S1)
Protein function May be involved in collagen fiber assembly.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01462 LRRNT 62 89 Leucine rich repeat N-terminal domain Family
PF13855 LRR_8 90 150 Leucine rich repeat Repeat
PF13855 LRR_8 159 220 Leucine rich repeat Repeat
PF13855 LRR_8 229 289 Leucine rich repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Detected in placenta (at protein level) (PubMed:32337544). Found in several connective tissues, especially in articular cartilages. {ECO:0000269|PubMed:32337544}.
Sequence
MWPLWRLVSLLALSQALPFEQRGFWDFTLDDGPFMMNDEEASGADTSGVLDPDSVTPTYS
AMCPFGCHCHLRVVQCSDLGLKSVPKEISPDTTLLDLQNNDISELRKDDFKGLQHLYALV
LVNNKISKIHEKAFSPLRKLQKLYISKNHL
VEIPPNLPSSLVELRIHDNRIRKVPKGVFS
GLRNMNCIEMGGNPLENSGFEPGAFDGLKLNYLRISEAKL
TGIPKDLPETLNELHLDHNK
IQAIELEDLLRYSKLYRLGLGHNQIRMIENGSLSFLPTLRELHLDNNKL
ARVPSGLPDLK
LLQVVYLHSNNITKVGVNDFCPMGFGVKRAYYNGISLFNNPVPYWEVQPATFRCVTDRLA
IQFGNYKK
Sequence length 368
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Thoracic Aortic Aneurysm And Aortic Dissection familial thoracic aortic aneurysm and aortic dissection GenCC
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Inhibit 33709550
Alzheimer Disease Stimulate 17660861
Aortic Aneurysm Associate 27632686
Aortic Aneurysm Abdominal Stimulate 9786264
Aortic Dissection Associate 27632686
Aortic Rupture Associate 27632686
Aortic Valve Stenosis Associate 20382708, 21185747
Atherosclerosis Associate 8662974
Atrial Fibrillation Associate 34332113
Atrophy Associate 23831768