SOST Gene

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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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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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 at NCBI GenBank:

NC_000017.10  NC_018928.2  NT_010783.16  

SwitchGear Promoter luciferase reporter plasmid: SOST promoter sequence

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

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


GeneLoc information about chromosome 17         GeneLoc Exon Structure

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

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, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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1 PDB 3D structure from and Proteopedia for SOST:

2K8P (3D)    

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

Explore proteomics data for SOST at MOPED

Post-translational modifications: 

SOST Human Recombinant Protein Products:

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	Cloud-Clone Corp. Proteins for SOST
	Search eBioscience for Proteins for SOST
	Search GeneTex for Proteins for SOST
	antibodies-online proteins for SOST (9 products)
	antibodies-online peptides for SOST

SOST Antibody Products:

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	R&D Systems Antibodies for SOST (SOST/Sclerostin)
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	Novus Biologicals SOST Antibodies
	Abcam antibodies for SOST
	Cloud-Clone Corp. Antibodies for SOST
	Search ThermoFisher Antibodies for SOST
	antibodies-online antibodies for SOST (60 products)

SOST Assay Products:

	Browse Kits and Assays available from EMD Millipore
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	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
	Search eBioscience for ELISAs for SOST
	antibodies-online kits for SOST (29 products)

Domains /
Families
for SOST gene

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
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ProtoNet protein and cluster: Q9BQB4

Find genes that share domains with SOST           About GenesLikeMe

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, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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     Gene Ontology (GO): 3 molecular function terms:    About this table

(inferred from 5 alleles) (MGI details for Sost)

genOway: Develop your customized and physiologically relevant rodent model 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
		Addgene plasmids for 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, Sets of similar genes according to GenesLikeMe)
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Subcellular locations from COMPARTMENTS: 

Compartment	Confidence
extracellular	5
golgi apparatus	2
nucleus	2
cytoskeleton	1
cytosol	1
plasma membrane	1

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

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 GenesLikeMe, 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, Sets of similar genes according to GenesLikeMe)
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SuperPaths for SOST About     See pathways by source

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	SuperPath	Contained pathways About
1	Non-Canonical Wnt Pathway	Non-Canonical Wnt Pathway 0.53 Canonical Wnt Pathway 0.53
2	Wnt signaling pathway (KEGG)	Wnt signaling pathway 0.40
3	TGF-beta Signaling Pathway (sino)	TGF-beta Signaling Pathway

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

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

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, Sets of similar genes according to GenesLikeMe)
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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,
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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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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 GenesLikeMe, 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

About this image

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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Paralogs
for SOST gene

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
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Paralogs for SOST gene

SOSTDC1²  

1 SIMAP similar gene for SOST using alignment to 1 protein entry:     SOST_HUMAN:

SOSTDC1

Find genes that share paralogs with SOST           About GenesLikeMe

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)
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Selected SNPs for SOST (see all 143)    About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr 17 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
VAR_0639824		Sclerosteosis 1 (SOST1)4	--	see VAR_063982	2	C R	mis4		0	--	--	--	--
VAR_0657674		Craniodiaphyseal dysplasia autosomal dominant (CDD)4	--	see VAR_065767	2	V M	mis4		0	--	--	--	--
VAR_0657664		Craniodiaphyseal dysplasia autosomal dominant (CDD)4	--	see VAR_065766	2	V L	mis4		0	--	--	--	--
rs1048946451,2	C	pathogenic1	42623842(-)	GGTGGC/TGACCT	2	R *	stg1		0	--	--	--	--
rs1048946441,2	C	pathogenic1	42623846(-)	AAGTGA/GTGGCG	2	* W	stg1		0	--	--	--	--
rs178859791,2	C	--	41831306(-)	TTTTT-/GGCAAT	1	--	ut31		0	--	--	--	--
rs178815501,2	C	--	41831443(-)	TAATAG/-CTGCC	1	--	ut31		2		NA CSA	4
rs717018821,2	C	--	41831444(+)	GCAGT-/CATTAT	1	--	ut31		0	--	--	--	--
rs105340241,2	C,F	--	41837506(+)	GACTG-/TCCTCCTT	1	--	us2k1 trp3		1		EU	718
rs105704851,2	C	--	41837507(+)	GTCCT-/CCTTTCCA	1	--	us2k1 trp3		1		NA	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 ID	Type	Subtype	PubMed ID
nsv2060	CNV	Insertion	18451855
nsv908265	CNV	Gain	21882294
nsv908267	CNV	Gain	21882294

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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB, Sets of similar genes according to GenesLikeMe)
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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

10 diseases for SOST:    
About MalaCards

10 Novoseek inferred disease relationships for SOST gene    About this table

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)
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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

Genome Databases showing SOST gene

Other Databases showing SOST gene

Specialized Databases showing SOST gene

Products
for SOST gene

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, GeneTex, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
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