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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SOST Gene

protein-coding   GIFtS: 56
GCID: GC17M041841

Sclerostin

(Previous name: sclerosteosis)
  31 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)
About This Section
Aliases
sclerostin1 2
VBCH2 5
sclerosteosis1
CDD2

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
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 craniodiaphyseal dysplasia, and sost-related sclerosing bone dysplasia, and among its related super-pathways are Non-Canonical Wnt Pathway and Wnt Signaling Pathway. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.2  NT_010783.15  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SOST

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section
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
Subcellular location: Secreted, extracellular space, extracellular matrix
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 

SOST Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

SOST Protein Expression

REFSEQ proteins: NP_079513.1  
ENSEMBL proteins: 
 ENSP00000301691  

Human Recombinant Protein Products for SOST: 
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 
Browse ProSpec Recombinant Proteins
Cloud-Clone Corp. Proteins for SOST 

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    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



SOST Antibody Products: 
Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
R&D Systems Antibodies for SOST (SOST/Sclerostin)
Browse OriGene Antibodies
OriGene Custom Antibody Services for SOST
GenScript Custom Superior Antibodies 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 

Assay Products for SOST: 
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

Protein Domains /
Families
for SOST gene

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
 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,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section
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 (GO ID links to tree view):    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:
     4 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Sost):
 growth/size  homeostasis/metabolism  limbs/digits/tail  skeleton 

SOST for phenotypes           About GeneDecksing

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

   inGenious Targeting Laboratory - Custom generated mouse model solutions for SOST 
   inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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:    		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SOST
8/38 QIAGEN miScript miRNA 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:    		Browse for Gene Knock-down Tools from EMD Millipore
OriGene RNAi products in human, mouse, rat for SOST
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SOST

Gene Editing
Products:		DNA2.0 Custom Protein Engineering Service for SOST
Sirion Biotech Customized adenovirus for overexpression of SOST

Clone
Products:     		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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
Sirion Biotech Customized lentivirus for stable overexpression of SOST 
                     Customized lentivirus expression plasmids for stable overexpression of SOST 

Cell Line
Products:     		GenScript Custom overexpressing Cell Line Services for SOST
Search LifeMap BioReagents cell lines for SOST
In Situ Assay
Products:   
 		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SOST


Pathways & Interactions
for SOST gene

(Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for SOST About                                                                                                See pathways by source

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


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


SOST for pathways           About GeneDecksing

Interactions:

    SABiosciences Gene Network CentralTM Interacting Genes and Proteins 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): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0001503ossification IEA--
GO:0009612response to mechanical stimulus IEP--
GO:0016055Wnt receptor signaling pathway IEA--
GO:0030178negative regulation of Wnt receptor 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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

SOST for compounds           About GeneDecksing

Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

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)

Search CenterWatch for drugs/clinical trials and news about SOST

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,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section
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:     		 QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SOST
8/38 QIAGEN miScript miRNA 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:     		Browse for Gene Knock-down Tools from EMD Millipore
OriGene RNAi products in human, mouse, rat for SOST
QIAGEN FlexiTube/FlexiPlate 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
Sirion Biotech Customized lentivirus for stable overexpression of SOST 
                     Customized lentivirus expression plasmids for stable overexpression of SOST 
Primer
Products:    		OriGene qPCR primer pairs and template standards for SOST
OriGene qSTAR qPCR primer pairs in human, mouse for SOST
SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SOST
  QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SOST
  QIAGEN 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:

BX282099 NM_025237 AI498457 AF184211 AF326739 AF331844 AA393768 AI768408 
AI580267 AI498691 AW771508 AI383985 AY358627 BF431247 AF170491 BU621845 
AA969408 BU617598 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

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


See SOST Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SOST

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)

    SABiosciences 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
SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SOST
QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SOST
QIAGEN 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)
About This Section
This gene was present in the common ancestor of chordates.

Orthologs for SOST gene from 4/9 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 88.15(n)1
87.68(a)1		   11 (65.48 cM)5
744991  NM_024449.51  NP_077769.31 
 1019624585 
chicken
(Gallus gallus)		 Aves SOST1 sclerostin 70.95(n)
63.81(a)		   429784  XM_427339.2  XP_427339.2 
lizard
(Anolis carolinensis)		 Reptilia SOST6
 Uncharacterized protein
 52(a)
 1 ↔ 1
 6(78082781-78088247)
zebrafish
(Danio rerio)		 Actinopterygii LOC1000005001 sclerostin-like 59.13(n)
55.78(a)		   100000500  XM_001340647.3  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)
About This Section
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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/143 SNPs in SOST are shown (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
SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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
 OMIM gene information: 605740   
OMIM disorders: 269500  239100  
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

    • 20/31 diseases for SOST (see all 31):    About MalaCards
    craniodiaphyseal dysplasia    sost-related sclerosing bone dysplasia    bone density    hypercementosis
    primary hyperparathyroidism    hyperostosis    osteosclerosis    renal osteodystrophy
    neuroblastoma    optic atrophy    osteomalacia    ankylosing spondylitis
    syndactyly    hyperparathyroidism    spondylitis    spinal cord injury
    blindness    osteoarthritis    anorexia nervosa    periodontitis

    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

    PubMed articles for SOST gene, integrated from 9 sources (see all 184):
    (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. (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. (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. (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. (2009)
    5. Analysis of association of LRP5, LRP6, SOST, DKK1, an d CTNNB1 genes with bone mineral density in a Slovenian population. (PubMed id 19898734)1, 4, 9 Mencej-Bedrac S....Marc J. (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. (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. (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. (2009)
    9. Bone overgrowth-associated mutations in the LRP4 gene impair sclerostin facilitator function. (PubMed id 21471202)1, 2 Leupin O.... Kneissel M. (2011)
    10. Identification of signal peptide domain SOST mutation s in autosomal dominant craniodiaphyseal dysplasia. (PubMed id 21221996)1, 2 Kim S.J....Jin D.K. (2011)

    External Searches for SOST gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing SOST gene

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

    Specialized Databases showing SOST gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SOST Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SOST

    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
    		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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    About This Section

     
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