SOST (sclerostin)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
50964
Gene name Gene Name - the full gene name approved by the HGNC.
Sclerostin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SOST
Synonyms (NCBI Gene) Gene synonyms aliases
CDD, DAND6, SOST1, VBCH
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q21.31
Summary Summary of gene provided in NCBI Entrez Gene.
Sclerostin is a secreted glycoprotein with a C-terminal cysteine knot-like (CTCK) domain and sequence similarity to the DAN (differential screening-selected gene aberrative in neuroblastoma) family of bone morphogenetic protein (BMP) antagonists. Loss-of-
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
SNP ID Visualize variation Clinical significance Consequence
rs104894644 C>T Pathogenic Stop gained, coding sequence variant
rs104894645 G>A,T Pathogenic Stop gained, coding sequence variant, synonymous variant
rs387906320 G>A Pathogenic Stop gained, coding sequence variant
rs387907169 C>A,T Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(59)
miRTarBase ID miRNA Experiments Reference
MIRT006748 hsa-miR-218-5p Luciferase reporter assay 21501592
MIRT006748 hsa-miR-218-5p Luciferase reporter assay 21501592
MIRT006748 hsa-miR-218-5p Luciferase reporter assay 21501592
MIRT006748 hsa-miR-218-5p Luciferase reporter assay 23060446
MIRT007117 hsa-miR-204-5p Luciferase reporter assay 23472141
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(3)
Transcription factor Regulation Reference
MEF2A Repression 17696759
MEF2C Repression 17696759
MEF2D Repression 17696759
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(33)
GO ID Ontology Definition Evidence Reference
GO:0001503 Process Ossification IBA
GO:0001503 Process Ossification IEA
GO:0001503 Process Ossification IEA
GO:0005515 Function Protein binding IPI 15908424, 21471202, 21944579, 28514442, 32296183, 33961781
GO:0005576 Component Extracellular region HDA 20551380
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
605740 13771 ENSG00000167941
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9BQB4
Protein name Sclerostin
Protein function Negative regulator of bone growth that acts through inhibition of Wnt signaling and bone formation.
PDB 2K8P , 3SOV , 6L6R
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05463 Sclerostin 1 → 210 Sclerostin (SOST) Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed at low levels with highest levels in bone, cartilage, kidney, liver, bone marrow and primary osteoblasts differentiated for 21 days. Detected in the subendothelial layer of the aortic intima (at protein level). {ECO:00
Sequence
Sequence length 213
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Wnt signaling pathway
Parathyroid hormone synthesis, secretion and action 		  Negative regulation of TCF-dependent signaling by WNT ligand antagonists
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Sclerosteosis sclerosteosis 1 rs387906320, rs104894644, rs104894645 N/A
Cranioectodermal Dysplasia Craniodiaphyseal dysplasia, autosomal dominant rs387907169 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Hyperostosis Of Skull hyperostosis corticalis generalisata N/A N/A GenCC
Show/Hide Text Mining Associations (152)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acromegaly Inhibit 39741885
Adrenal Insufficiency Stimulate 30575924
Amyotrophic Lateral Sclerosis Inhibit 25811776
Aortic Aneurysm Familial Abdominal 1 Associate 17634102
Aortic Valve Calcification of Stimulate 23288857, 24112318
Arthritis Juvenile Stimulate 25280749
Arthritis Rheumatoid Associate 25837853, 30538782, 30880318
Atherosclerosis Stimulate 23288857
Atherosclerosis Associate 27001371, 29303699, 30403705, 40731833
Axial Spondyloarthritis Associate 29303699