Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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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.
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BGN |
SynonymsGene synonyms aliases
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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.
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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 |
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 |
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Sequence |
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Sequence length |
368 |
Interactions |
View interactions |