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SOST Gene

protein-coding   GIFtS: 59
GCID: GC17M041841

Sclerostin

(Previous name: sclerosteosis)
  See related diseases
at
MalaCards
 

Aliases
for SOST gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
sclerostin1 2
CDD2 5
VBCH2 5
sclerosteosis1

External Ids:    HGNC: 137711   Entrez Gene: 509642   Ensembl: ENSG000001679417   OMIM: 6057405   UniProtKB: Q9BQB43   

Export aliases for SOST gene to outside databases

Previous GC identifers: GC17M041573 GC17M044008 GC17M042306 GC17M039186 GC17M037597


Summaries
for SOST gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 sost-related sclerosing bone dysplasia, and craniodiaphyseal dysplasia, autosomal dominant. GO annotations related to this gene include heparin binding and transcription factor binding. An important paralog of this gene is SOSTDC1.

UniProtKB/Swiss-Prot: SOST_HUMAN, Q9BQB4
Function: Negative regulator of bone growth that acts through inhibition of Wnt signaling and bone formation

Gene Wiki entry for SOST (Sclerostin) Gene


Genomic Views
for SOST gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000017.11  NC_018928.2  NT_010783.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the SOST gene promoter:
         AhR   MEF-2A   MEF-2   aMEF-2   Arnt   C/EBPalpha   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SOST promoter sequence
   Search Chromatin IP Primers for SOST

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SOST


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q11.2   Ensembl cytogenetic band:  17q21.31   HGNC cytogenetic band: 17q12-q21

SOST Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SOST gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M041841:  view genomic region     (about GC identifiers)

Start:
 41,831,099 bp from pter      End:
 41,836,156 bp from pter
Size:
 5,058 bases      Orientation:
 minus strand

Proteins
for SOST gene

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: SOST_HUMAN, Q9BQB4 (See protein sequence)
Recommended Name: Sclerostin precursor  
Size: 213 amino acids; 24031 Da
Subunit: 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
1 PDB 3D structure from and Proteopedia for SOST:
2K8P (3D)    
Secondary accessions: Q495N9
Alternative splicing: 2 isoforms:  Q9BQB4-1   Q9BQB4-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SOST: NX_Q9BQB4

Explore proteomics data for SOST at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn53, Asn175

    • See SOST Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_079513.1  
    ENSEMBL proteins: 
     ENSP00000301691  
    Reactome Protein details: Q9BQB4

    SOST Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for SOST (SOST/Sclerostin)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for SOST
    OriGene Custom MassSpec
    OriGene Custom Protein Services for SOST
    GenScript Custom Purified and Recombinant Proteins Services for SOST
    Novus Biologicals SOST Lysate
    Sino Biological Recombinant Protein for SOST
    Sino Biological Cell Lysate for SOST
    ProSpec Recombinant Protein for SOST
    Cloud-Clone Corp. Proteins for SOST

    SOST Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for SOST (SOST/Sclerostin)
    OriGene Antibodies for SOST
    OriGene Custom Antibody Services for SOST
    Novus Biologicals SOST Antibodies
    Abcam antibodies for SOST
    Cloud-Clone Corp. Antibodies for SOST
    Search ThermoFisher Antibodies for SOST
    LSBio Antibodies in human, mouse, rat for SOST

    SOST Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for SOST
    R&D Systems ELISAs for SOST (SOST/Sclerostin)         (see all)
    GenScript Custom Assay Services for SOST
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SOST
    Cloud-Clone Corp. CLIAs for SOST

    Domains /
    Families
    for SOST gene

    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    TryGeneCards Plus    		 2 InterPro protein domains:
     IPR015665 SOST
     IPR008835 Sclerostin/SOSTDC1

    Graphical View of Domain Structure for InterPro Entry Q9BQB4

    ProtoNet protein and cluster: Q9BQB4

    3 Blocks protein domains:
    IPB002400 Growth factor cystine knot superfamily signature
    IPB006207 Cystine knot
    IPB008835 Sclerostin


    UniProtKB/Swiss-Prot: SOST_HUMAN, Q9BQB4
    Similarity: Belongs to the sclerostin family
    Similarity: Contains 1 CTCK (C-terminal cystine knot-like) domain


    SOST for domains           About GeneDecksing


    Function
    for SOST gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SOST_HUMAN, Q9BQB4
    Function: Negative regulator of bone growth that acts through inhibition of Wnt signaling and bone formation

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI15908424
    GO:0008134transcription factor binding IDA17696759
    GO:0008201heparin binding IEA--
         
    SOST for ontologies           About GeneDecksing


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Sost):
     growth/size/body  homeostasis/metabolism  limbs/digits/tail  normal  skeleton 

    SOST for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for SOST: Sosttm1(KOMP)Vlcg Sosttm1Paz Sosttm1Lhe

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SOST
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SOST

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SOST
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SOST

    miRNA
    Products:            		miRTarBase miRNAs that target SOST:
    hsa-mir-218-5p (MIRT006748), hsa-mir-335-5p (MIRT018098), hsa-mir-204-5p (MIRT007117)

    Block miRNA regulation of human, mouse, rat SOST using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SOST (see all 38):
    hsa-miR-411* hsa-miR-379* hsa-let-7d hsa-let-7a-2* hsa-miR-507 hsa-miR-218 hsa-let-7g hsa-let-7a
    SwitchGear 3'UTR luciferase reporter plasmid: SOST 3' UTR sequence
    Inhib. RNA
    Products:            		OriGene RNAi products in human, mouse, rat for SOST
    Predesigned siRNA for gene silencing in human, mouse, rat SOST

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for SOST

    Clone
    Products:             		 OriGene clones in human, mouse for SOST (see all 6)
    OriGene ORF clones in mouse, rat for SOST
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SOST (NM_015464)
    Sino Biological Human cDNA Clone for SOST
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SOST
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SOST

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for SOST
    Browse ESI BIO Cell Lines and PureStem Progenitors for SOST 
    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SOST


    Localization
    for SOST gene

    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SOST_HUMAN, Q9BQB4: Secreted, extracellular space, extracellular matrix
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    golgi apparatus2
    nucleus2
    cytoskeleton1
    cytosol1
    plasma membrane1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005578proteinaceous extracellular matrix IEA--
    GO:0005615extracellular space IEA--
    GO:0005794Golgi apparatus IEA--
    GO:0031012colocalizes with extracellular matrix IDA--

    SOST for ontologies           About GeneDecksing


    Pathways & Interactions
    for SOST gene

    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SOST About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Non-Canonical Wnt Pathway
    		Non-Canonical Wnt Pathway0.53
    		Canonical Wnt Pathway0.53
    2Wnt signaling pathway (KEGG)
    		Wnt signaling pathway0.40
    3TGF-beta Signaling Pathway (sino)
    		TGF-beta Signaling Pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 Sino Biological Pathways for SOST
        Canonical Wnt Pathway
    Non-Canonical Wnt Pathway
    TGF-beta Signaling Pathway

    2 Reactome Pathways for SOST
        negative regulation of TCF-dependent signaling by WNT ligand antagonists
    TCF dependent signaling in response to WNT


    1 Kegg Pathway  (Kegg details for SOST):
        Wnt signaling pathway


    SOST for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SOST
    Interactions:

        GeneGlobe Interaction Network for SOST

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for SOST (ENSP000003016914) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LRP6ENSP000002613494STRING: ENSP00000261349
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001503ossification IEA--
    GO:0009612response to mechanical stimulus IEP--
    GO:0016055Wnt signaling pathway IEA--
    GO:0030178negative regulation of Wnt signaling pathway ----
    GO:0030279negative regulation of ossification NAS11181578

    SOST for ontologies           About GeneDecksing



    Drugs & Compounds
    for SOST gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SOST

    6 Novoseek inferred chemical compound relationships for SOST gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    denosumab 82.9 2 19249985 (1)
    cystine 25.4 2 11179006 (2)
    vitamin d 19.1 1 12699293 (1)
    estrogen 18.6 2 19249985 (1), 12699293 (1)
    calcium 0 3 17874975 (1), 15833058 (1), 19401590 (1)
    cysteine 0 4 15615113 (1), 14525956 (1), 17002572 (1)



    SOST for compounds           About GeneDecksing



    Transcripts
    for SOST gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SOST gene: 
    NM_025237.2  

    Unigene Cluster for SOST:

    Sclerostin
    Hs.349204  [show with all ESTs]
    Unigene Representative Sequence: AY358627
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000301691(uc002iec.1)
    miRNA
    Products:             		 Block miRNA regulation of human, mouse, rat SOST using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SOST (see all 38):
    hsa-miR-411* hsa-miR-379* hsa-let-7d hsa-let-7a-2* hsa-miR-507 hsa-miR-218 hsa-let-7g hsa-let-7a
    SwitchGear 3'UTR luciferase reporter plasmid: SOST 3' UTR sequence
    Inhib. RNA
    Products:             		OriGene RNAi products in human, mouse, rat for SOST
    Predesigned siRNA for gene silencing in human, mouse, rat SOST
    Clone
    Products:             		 OriGene clones in human, mouse for SOST (see all 6)
    OriGene ORF clones in mouse, rat for SOST
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SOST (NM_015464)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SOST
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SOST
    Primer
    Products:            		OriGene qPCR primer pairs and template standards for SOST
    OriGene qSTAR qPCR primer pairs in human, mouse for SOST
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SOST
      QuantiTect SYBR Green Assays in human, mouse, rat SOST
      QuantiFast Probe-based Assays in human, mouse, rat SOST

    Additional mRNA sequence: 

    AF170491.1 AF184211.1 AF326739.1 AF331844.1 AY358203.1 AY358627.1 BC101086.1 BC101087.1 
    BC101088.1 BC101089.1 

    1 DOTS entry:

    DT.101980310 

    23 AceView cDNA sequences:

    AF331844 BX282099 AF184211 NM_025237 AI498457 AF326739 AA969408 BF431247 
    BU617598 AI768408 AI383985 BU621845 AW771508 AI498691 AF170491 AY358627 
    AA393768 AI580267 AI493134 D79813 AI783624 CD250782 AA393939 

    GeneLoc Exon Structure


    Expression
    for SOST gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SOST expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACATATGAAA
    SOST Expression
    About this image

    SOST Protein expression data from MOPED1, PaxDb2 and MaxQB3:     About this image

    SOST Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.349204

    UniProtKB/Swiss-Prot: SOST_HUMAN, Q9BQB4
    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)

        Custom PCR Arrays for SOST
    Primer
    Products:    		OriGene qPCR primer pairs and template standards for SOST
    OriGene qSTAR qPCR primer pairs in human, mouse for SOST
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SOST
    QuantiTect SYBR Green Assays in human, mouse, rat SOST
    QuantiFast Probe-based Assays in human, mouse, rat SOST
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SOST

    Orthologs
    for SOST gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for SOST gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Sost1 , 5 sclerostin1, 5 88.83(n)1
    88.83(a)1    		   11 (65.48 cM)5
    744991  NM_024449.51  NP_077769.31 
     1019624585 
    chicken
    (Gallus gallus)    		 Aves SOST1 sclerostin 68.97(n)
    61.17(a)    		   429784  XM_004948551.1  XP_004948608.1 
    lizard
    (Anolis carolinensis)    		 Reptilia SOST6
    		 sclerostin
    		 52(a)
    		 1 ↔ 1
    		 6(78082781-78088247)
    zebrafish
    (Danio rerio)    		 Actinopterygii sost1 sclerostin 59.22(n)
    55.87(a)    		   100000500  XM_001340647.4  XP_001340683.1 


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

    Paralogs
    for SOST gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SOST gene
    SOSTDC12  
    1 SIMAP similar gene for SOST using alignment to 1 protein entry:     SOST_HUMAN:
    SOSTDC1

    SOST for paralogs           About GeneDecksing



    Genomic Variants
    for SOST gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for SOST (see all 143)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 17 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    VAR_0639824
    		Sclerosteosis 1 (SOST1)4--see VAR_0639822 C R mis40--------
    VAR_0657674
    		Craniodiaphyseal dysplasia autosomal dominant (CDD)4--see VAR_0657672 V M mis40--------
    VAR_0657664
    		Craniodiaphyseal dysplasia autosomal dominant (CDD)4--see VAR_0657662 V L mis40--------
    rs1048946451,2
    		Cpathogenic142623842(-) GGTGGC/TGACCT 2 R * stg10--------
    rs1048946441,2
    		Cpathogenic142623846(-) AAGTGA/GTGGCG 2 * W stg10--------
    rs178859791,2
    		C--41831306(-) TTTTT-/GGCAAT 1 -- ut310--------
    rs178815501,2
    		C--41831443(-) TAATAG/-CTGCC 1 -- ut312Minor allele frequency- -:0.00NA CSA 4
    rs717018821,2
    		C--41831444(+) GCAGT-/CATTAT 1 -- ut310--------
    rs105340241,2
    		C,F--41837506(+) GACTG-/TCCTCCTT 1 -- us2k1 trp31Minor allele frequency- TCC:0.35EU 718
    rs105704851,2
    		C--41837507(+) GTCCT-/CCTTTCCA 1 -- us2k1 trp31Minor allele frequency- CCT:0.00NA 2

    HapMap Linkage Disequilibrium report for SOST (41831099 - 41836156 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for SOST:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv2060CNV Insertion18451855
    nsv908265CNV Gain21882294
    nsv908267CNV Gain21882294

    Human Gene Mutation Database (HGMD): SOST
    Locus Specific Mutation Databases (LSDB): SOST

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SOST
    DNA2.0 Custom Variant and Variant Library Synthesis for SOST

    Disorders / Diseases
    for SOST gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus    		 OMIM gene information: 605740   
    OMIM disorders: 269500  239100  122860  
    UniProtKB/Swiss-Prot: SOST_HUMAN, Q9BQB4
  • 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. 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. 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. 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

    • Selected diseases for SOST (see all 36):    About MalaCards
    sost-related sclerosing bone dysplasia    craniodiaphyseal dysplasia, autosomal dominant    craniodiaphyseal dysplasia    hypercementosis
    hyperostosis    primary hyperparathyroidism    osteosclerosis    renal osteodystrophy
    osteomalacia    hyperparathyroidism    osteoporotic fracture    periostitis
    spinal cord injury    osteoporosis    optic atrophy    syndactyly
    neuroblastoma    ankylosing spondylitis    spondylitis    anorexia nervosa

    3 diseases from the University of Copenhagen DISEASES database for SOST:
    Hyperostosis     Osteoporosis     Osteosclerosis

    SOST for disorders           About GeneDecksing

    10 Novoseek inferred disease relationships for SOST gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sclerosteosis 98.6 46 15514891 (3), 14739291 (3), 19072561 (3), 11181578 (2) (see all 22)
    van buchem disease 97.3 29 15514891 (3), 15869900 (2), 18292354 (2), 19587164 (2) (see all 13)
    high bone mass 91.6 9 15024046 (1), 17052975 (1), 15778503 (1), 18292354 (1) (see all 8)
    bone dysplasias 82.6 5 20336693 (1), 11179006 (1), 12398949 (1), 14739291 (1) (see all 5)
    osteoporosis 73.4 9 19371798 (2), 15615113 (1), 17245025 (1), 20116187 (1) (see all 8)
    hyperostosis 69.5 3 18538647 (2), 15869924 (1)
    mass phenotype 66.8 2 15778503 (1), 15454089 (1)
    bone diseases 57.1 3 17052975 (1), 19371798 (1), 16189254 (1)
    bone loss 44.9 4 19419292 (2), 20305005 (1), 17341572 (1)
    skeletal disorder 44.1 3 15024046 (1), 15576958 (1)

    GeneTests: SOST
    GeneReviews: SOST
    Genetic Association Database (GAD): SOST
    Human Genome Epidemiology (HuGE) Navigator: SOST (11 documents)

    Export disorders for SOST gene to outside databases

    Publications
    for SOST gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for SOST gene, integrated from 10 sources (see all 204):
    (articles sorted by number of sources associating them with SOST)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein. (PubMed id 11179006)1, 2, 3, 9 Brunkow M.E.... Mulligan J.T. (Am. J. Hum. Genet. 2001)
    2. Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST). (PubMed id 11181578)1, 2, 3, 9 Balemans W.... Van Hul W. (Hum. Mol. Genet. 2001)
    3. Polymorphisms in the sclerosteosis/van Buchem disease gene (SOST) region are associated with bone-mineral density in elderly whites. (PubMed id 15514891)1, 4, 9 Uitterlinden A.G....Brunkow M.E. (Am. J. Hum. Genet. 2004)
    4. Characterization of the structural features and interactions of sclerostin: molecular insight into a key regulator of Wnt-mediated bone formation. (PubMed id 19208630)1, 2, 9 Veverka V.... Carr M.D. (J. Biol. Chem. 2009)
    5. Analysis of association of LRP5, LRP6, SOST, DKK1, and CTNNB1 genes with bone mineral density in a Slovenian population. (PubMed id 19898734)1, 4, 9 Mencej-Bedrac S....Marc J. (Calcif. Tissue Int. 2009)
    6. Lack of association between the SOST gene and bone mineral density in perimenopausal women: analysis of five polymorphisms. (PubMed id 12398949)1, 4, 9 Balemans W....Van Hul W. (Bone 2002)
    7. Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease. (PubMed id 11836356)1, 2, 9 Balemans W.... Van Hul W. (J. Med. Genet. 2002)
    8. The -9247 T/C polymorphism in the SOST upstream regulatory region that potentially affects C/EBPalpha and FOXA1 binding is associated with osteoporosis. (PubMed id 19371798)1, 4, 9 Huang Q.Y....Kung A.W. (Bone 2009)
    9. Bone overgrowth-associated mutations in the LRP4 gene impair sclerostin facilitator function. (PubMed id 21471202)1, 2 Leupin O.... Kneissel M. (J. Biol. Chem. 2011)
    10. Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia. (PubMed id 21221996)1, 2 Kim S.J.... Jin D.K. (Hum. Genet. 2011)

    External Searches for SOST gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

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     ANDOR
    Aliases
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    Genome Databases showing SOST gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 50964 HGNC: 13771 AceView: SOST Ensembl:ENSG00000167941 euGenes: HUgn50964
    ECgene: SOST Kegg: 50964 H-InvDB: SOST

    Other Databases showing SOST gene

    (According to HUGE)
    About This Section

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    Specialized Databases showing SOST gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for SOST Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SOST[genesymbol]

    Intellectual Property
    for SOST gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus    		Patent Information for SOST gene:
    Search GeneIP for patents involving SOST

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    Products
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