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Aliases for SOST Gene

Aliases for SOST Gene

  • Sclerostin 2 3
  • VBCH 3 6
  • CDD 3 6
  • Sclerosteosis 2
  • SOST1 3

External Ids for SOST Gene

Summaries for SOST Gene

Entrez Gene Summary for SOST 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-function mutations in this gene are associated with an autosomal-recessive disorder, sclerosteosis, which causes progressive bone overgrowth. A deletion downstream of this gene, which causes reduced sclerostin expression, is associated with a milder form of the disorder called van Buchem disease. [provided by RefSeq, Jul 2008]

GeneCards Summary for SOST Gene

SOST (Sclerostin) is a Protein Coding gene. Diseases associated with SOST include sclerosteosis 1 and craniodiaphyseal dysplasia, autosomal dominant. Among its related pathways are TGF-beta Signaling Pathway (sino) and Wnt signaling pathway (KEGG). GO annotations related to this gene include transcription factor binding and heparin binding. An important paralog of this gene is SOSTDC1.

UniProtKB/Swiss-Prot for SOST Gene

  • Negative regulator of bone growth that acts through inhibition of Wnt signaling and bone formation.

Gene Wiki entry for SOST Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SOST Gene

Genomics for SOST Gene

Genomic Location for SOST Gene

Start:
43,753,731 bp from pter
End:
43,758,788 bp from pter
Size:
5,058 bases
Orientation:
Minus strand

Genomic View for SOST Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SOST Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SOST Gene

Regulatory Elements for SOST Gene

Proteins for SOST Gene

  • Protein details for SOST Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BQB4-SOST_HUMAN
    Recommended name:
    Sclerostin
    Protein Accession:
    Q9BQB4
    Secondary Accessions:
    • Q495N9

    Protein attributes for SOST Gene

    Size:
    213 amino acids
    Molecular mass:
    24031 Da
    Quaternary structure:
    • Interacts with LRP4 (via the extracellular domain); the interaction facilitates the inhibition of Wnt signaling. Interacts with LRP5 (via the first two YWTD-EGF repeat domains); the interaction inhibits Wnt-mediated signaling. Interacts with LRP6.

    Three dimensional structures from OCA and Proteopedia for SOST Gene

    Alternative splice isoforms for SOST Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SOST Gene

Proteomics data for SOST Gene at MOPED

Post-translational modifications for SOST Gene

  • Glycosylation at Asn53 and Asn175

Other Protein References for SOST Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for SOST Gene

Domains for SOST Gene

Suggested Antigen Peptide Sequences for SOST Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BQB4

UniProtKB/Swiss-Prot:

SOST_HUMAN
Domain:
  • Contains 1 CTCK (C-terminal cystine knot-like) domain.:
    • Q9BQB4
Family:
  • Belongs to the sclerostin family.:
    • Q9BQB4
genes like me logo Genes that share domains with SOST: view

No data available for Gene Families for SOST Gene

Function for SOST Gene

Molecular function for SOST Gene

UniProtKB/Swiss-Prot Function: Negative regulator of bone growth that acts through inhibition of Wnt signaling and bone formation.

Gene Ontology (GO) - Molecular Function for SOST Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15908424
GO:0008134 transcription factor binding IDA 17696759
GO:0008201 heparin binding IEA --
genes like me logo Genes that share ontologies with SOST: view
genes like me logo Genes that share phenotypes with SOST: view

Animal Models for SOST Gene

MGI Knock Outs for SOST:

miRNA for SOST Gene

miRTarBase miRNAs that target SOST

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for SOST Gene

Localization for SOST Gene

Subcellular locations from UniProtKB/Swiss-Prot for SOST Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SOST Gene COMPARTMENTS Subcellular localization image for SOST gene
Compartment Confidence
extracellular 5
golgi apparatus 2
nucleus 2
cytoskeleton 1
cytosol 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for SOST Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005615 extracellular space IEA --
GO:0005794 Golgi apparatus IEA --
GO:0031012 colocalizes_with extracellular matrix IDA 20551380
genes like me logo Genes that share ontologies with SOST: view

Pathways for SOST Gene

genes like me logo Genes that share pathways with SOST: view

Pathways by source for SOST Gene

1 KEGG pathway for SOST Gene

Gene Ontology (GO) - Biological Process for SOST Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001503 ossification IEA --
GO:0009612 response to mechanical stimulus IEP 21723865
GO:0016055 Wnt signaling pathway IEA --
GO:0030178 negative regulation of Wnt signaling pathway --
GO:0030279 negative regulation of ossification NAS 11181578
genes like me logo Genes that share ontologies with SOST: view

Compounds for SOST Gene

(6) Novoseek inferred chemical compound relationships for SOST Gene

Compound -log(P) Hits PubMed IDs
denosumab 82.9 1
cystine 25.4 2
vitamin d 19.1 1
estrogen 18.6 2
calcium 0 3
genes like me logo Genes that share compounds with SOST: view

Transcripts for SOST Gene

mRNA/cDNA for SOST Gene

(1) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(23) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SOST Gene

Sclerostin:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SOST Gene

No ASD Table

Relevant External Links for SOST Gene

GeneLoc Exon Structure for
SOST
ECgene alternative splicing isoforms for
SOST

Expression for SOST Gene

mRNA expression in normal human tissues for SOST Gene

mRNA differential expression in normal tissues according to GTEx for SOST Gene

This gene is overexpressed in Artery - Aorta (27.8), Artery - Tibial (14.3), and Kidney - Cortex (5.6).

SOURCE GeneReport for Unigene cluster for SOST Gene Hs.349204

mRNA Expression by UniProt/SwissProt for SOST Gene

Q9BQB4-SOST_HUMAN
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).
genes like me logo Genes that share expressions with SOST: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein expression for SOST Gene

Orthologs for SOST Gene

This gene was present in the common ancestor of chordates.

Orthologs for SOST Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SOST 35
  • 99.84 (n)
  • 99.53 (a)
SOST 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SOST 35
  • 93.24 (n)
  • 93.87 (a)
SOST 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SOST 35
  • 93.74 (n)
  • 95.77 (a)
SOST 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sost 35
  • 88.83 (n)
  • 88.83 (a)
Sost 16
Sost 36
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SOST 36
  • 66 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sost 35
  • 89.11 (n)
  • 90.45 (a)
chicken
(Gallus gallus)
Aves SOST 35
  • 68.97 (n)
  • 61.17 (a)
SOST 36
  • 60 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SOST 36
  • 52 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii sost 35
  • 59.22 (n)
  • 55.87 (a)
sost 36
  • 50 (a)
OneToOne
Species with no ortholog for SOST:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SOST Gene

ENSEMBL:
Gene Tree for SOST (if available)
TreeFam:
Gene Tree for SOST (if available)

Paralogs for SOST Gene

Paralogs for SOST Gene

Selected SIMAP similar genes for SOST Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with SOST: view

Variants for SOST Gene

Sequence variations from dbSNP and Humsavar for SOST Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs851054 -- 43,759,255(-) GAAAC(A/G)CCTTG upstream-variant-2KB
rs851055 -- 43,759,492(-) GTCCA(C/T)CACAG upstream-variant-2KB
rs851056 -- 43,759,814(+) ACCAA(C/G)TGGTC upstream-variant-2KB
rs851057 -- 43,759,896(+) GGGGG(C/G)GCAGG upstream-variant-2KB
rs851058 -- 43,760,351(+) TCCGC(A/G)CCACC upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for SOST Gene

Variant ID Type Subtype PubMed ID
nsv908265 CNV Gain 21882294
nsv908267 CNV Gain 21882294
nsv2060 CNV Insertion 18451855

Relevant External Links for SOST Gene

HapMap Linkage Disequilibrium report
SOST
Human Gene Mutation Database (HGMD)
SOST
Locus Specific Mutation Databases (LSDB)
SOST

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SOST Gene

Disorders for SOST Gene

(3) OMIM Diseases for SOST Gene (605740)

UniProtKB/Swiss-Prot

SOST_HUMAN
  • Sclerosteosis 1 (SOST1) [MIM:269500]: An autosomal recessive sclerosing bone dysplasia characterized by a generalized hyperostosis and sclerosis leading to a markedly thickened skull, with mandible, ribs, clavicles and all long bones also being affected. Due to narrowing of the foramina of the cranial nerves, facial nerve palsy, hearing loss and atrophy of the optic nerves can occur. Sclerosteosis is clinically and radiologically very similar to van Buchem disease, mainly differentiated by hand malformations and a large stature in sclerosteosis patients. {ECO:0000269 PubMed:11179006, ECO:0000269 PubMed:11181578, ECO:0000269 PubMed:20583295}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Van Buchem disease (VBCH) [MIM:239100]: VBCH is an autosomal recessive sclerosing bone dysplasia characterized by endosteal hyperostosis of the mandible, skull, ribs, clavicles, and diaphyses of the long bones. Affected patients present a symmetrically increased thickness of bones, most frequently found as an enlarged jawbone, but also an enlargement of the skull, ribs, diaphysis of long bones, as well as tubular bones of hands and feet. The clinical consequence of increased thickness of the skull include facial nerve palsy causing hearing loss, visual problems, neurological pain, and, very rarely, blindness as a consequence of optic atrophy. Serum alkaline phosphatase levels are elevated. {ECO:0000269 PubMed:11836356}. Note=The disease is caused by mutations affecting the gene represented in this entry. A 52 kb deletion downstream of SOST results in SOST transcription suppression causing van Buchem disease.
  • Craniodiaphyseal dysplasia autosomal dominant (CDD) [MIM:122860]: A severe bone dysplasia characterized by massive generalized hyperostosis and sclerosis, especially involving the skull and facial bones. The sclerosis is so severe that the resulting facial distortion is referred to as leontiasis ossea (leonine faces) and the bone deposition results in progressive stenosis of craniofacial foramina. Respiratory obstruction due to choanal stenosis compromises the clinical outcomes of affected patients. {ECO:0000269 PubMed:21221996}. Note=The disease is caused by mutations affecting the gene represented in this entry. Heterozygous mutations located in the secretion signal of the SOST gene prevent sclerostin secretion and can be responsible for craniodiaphyseal dysplasia.

(3) University of Copenhagen DISEASES for SOST Gene

(10) Novoseek inferred disease relationships for SOST Gene

Disease -log(P) Hits PubMed IDs
sclerosteosis 98.6 34
van buchem disease 97.3 20
high bone mass 91.6 8
bone dysplasias 82.6 5
osteoporosis 73.4 9

Relevant External Links for SOST

GeneTests
SOST
GeneReviews
SOST
Genetic Association Database (GAD)
SOST
Human Genome Epidemiology (HuGE) Navigator
SOST
genes like me logo Genes that share disorders with SOST: view

Publications for SOST Gene

  1. Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein. (PMID: 11179006) Brunkow M.E. … Mulligan J.T. (Am. J. Hum. Genet. 2001) 2 3 4 23
  2. Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST). (PMID: 11181578) Balemans W. … Van Hul W. (Hum. Mol. Genet. 2001) 2 3 4 23
  3. Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease. (PMID: 11836356) Balemans W. … Van Hul W. (J. Med. Genet. 2002) 3 4 23
  4. Lack of association between the SOST gene and bone mineral density in perimenopausal women: analysis of five polymorphisms. (PMID: 12398949) Balemans W. … Van Hul W. (Bone 2002) 3 23 48
  5. Polymorphisms in the sclerosteosis/van Buchem disease gene (SOST) region are associated with bone-mineral density in elderly whites. (PMID: 15514891) Uitterlinden A.G. … Brunkow M.E. (Am. J. Hum. Genet. 2004) 3 23 48

Products for SOST Gene

Sources for SOST Gene

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