SOST (sclerostin)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 50964
Gene name Sclerostin
Gene symbol SOST
Synonyms (NCBI Gene)
CDDDAND6SOST1VBCH
Chromosome 17
Chromosome location 17q21.31
Summary 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.
4
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.
59
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 Transcription factors information provided by TRRUST V2 database.
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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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
605740 13771 ENSG00000167941
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Craniodiaphyseal dysplasia, autosomal dominant Likely pathogenic; Pathogenic rs387907169 RCV000024297
RCV000024298
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sclerosteosis 1 Pathogenic; Likely pathogenic rs377648601, rs387906320, rs104894644, rs104894645, rs757158654 RCV001843444
RCV000005049
RCV000005051
RCV000005052
RCV003334334
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SOST-related disorder Likely pathogenic rs387907169 RCV003398567
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (8)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BONE FRACTURE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL ANOMALY OF CARTILAGE — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CRANIODIAPHYSEAL DYSPLASIA — Disgenet, GWAS catalog, Orphanet
Disgenet, GWAS catalog, Orphanet
Disgenet, GWAS catalog, Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (274)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acquired deformity of finger Mallet finger HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Acromegaly Acromegaly BEFREE 31821453
★★★★★
★☆☆☆☆
Found in Text Mining only
Acromegaly Acromegaly Pubtator 39741885 Inhibit
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Rickets Rickets BEFREE 26721590
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 25811776 Inhibit
★★★★★
★☆☆☆☆
Found in Text Mining only
Ankylosing spondylitis Ankylosing Spondylitis BEFREE 27369645, 28553652, 28941122, 29264888, 29419466, 29854850, 30443790, 30911810, 30968207, 31111563, 31656088
★★★★★
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Aortic Aneurysm BEFREE 28062506
★★★★★
★☆☆☆☆
Found in Text Mining only
Aortic Valve Calcification of Aortic valve disease Pubtator 23288857, 24112318 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Aortic Valve Insufficiency Aortic Valve Insufficiency BEFREE 30227689
★★★★★
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 28062506, 30030677, 30144272, 30314461, 30403705, 31129005, 31677125, 31706805, 31773386
★★★★★
★☆☆☆☆
Found in Text Mining only