Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
633 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Biglycan |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
BGN |
SynonymsGene synonyms aliases
|
DSPG1, MRLS, PG-S1, PGI, SEMDX, SLRR1A |
ChromosomeChromosome number
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X |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
Xq28 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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] |
SNPsSNP 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 |
rs1602981402 |
G>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs1602981441 |
->AA |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
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miRNAmiRNA information provided by mirtarbase database.
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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.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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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 |
|
Sequence |
|
Sequence length |
368 |
Interactions |
View interactions |