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Set Analyses:

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SOST Gene

protein-coding GIFtS: 59
GCID: GC17M041841

Sclerostin

(Previous name: sclerosteosis)

See SOST-related diseases
at

MalaCards

(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

(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 craniodiaphyseal dysplasia, autosomal dominant, and sost-related sclerosing bone dysplasias. 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

(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

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

(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, and/or antibodies-online,
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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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
	Search eBioscience 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)
	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
	antibodies-online antibodies for SOST (60 products)

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
	Search eBioscience for ELISAs for SOST
	antibodies-online kits for SOST (29 products)

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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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

Find genes that share domains with SOST About GenesLikeMe

(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.)
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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 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	--

Find genes that share ontologies with SOST About GenesLikeMe

Phenotypes:
5 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Sost):

growth/size/body

homeostasis/metabolism

limbs/digits/tail

normal

skeleton

Find genes that share phenotypes with SOST About GenesLikeMe

Animal Models:
MGI mouse knock-outs for SOST: Sost^{tm1(KOMP)Vlcg} Sost^tm1Paz Sost^tm1Lhe

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

(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:

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

About this image

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005578	proteinaceous extracellular matrix	IEA	--
GO:0005615	extracellular space	IEA	--
GO:0005794	Golgi apparatus	IEA	--
GO:0031012	colocalizes with extracellular matrix	IDA	--

Find genes that share ontologies with SOST About GenesLikeMe

(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

Powered
by

SuperPath

Contained pathways About

Non-Canonical Wnt Pathway

Non-Canonical Wnt Pathway

0.53

Canonical Wnt Pathway

0.53

Wnt signaling pathway (KEGG)

Wnt signaling pathway

0.40

TGF-beta Signaling Pathway (sino)

TGF-beta Signaling Pathway

Find genes that share SuperPaths with SOST About GenesLikeMe

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

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

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
LRP6	ENSP00000261349⁴	STRING: ENSP00000261349

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001503	ossification	IEA	--
GO:0009612	response to mechanical stimulus	IEP	--
GO:0016055	Wnt signaling pathway	IEA	--
GO:0030178	negative regulation of Wnt signaling pathway	--	--
GO:0030279	negative regulation of ossification	NAS	11181578

Find genes that share ontologies with SOST About GenesLikeMe

(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)

Find genes that share compounds with SOST About GenesLikeMe

(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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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
		Addgene plasmids 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

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

(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

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
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		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 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	Sost^{1 , 5}	sclerostin^{1, 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 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

Find genes that share paralogs with SOST About GenesLikeMe

(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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SNP ID	Valid	Clinical significance	Chr 17 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
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	--	--	--	--
rs104894645^1,2	C	pathogenic¹	42623842(-)	`GGTGGC/TGACCT`	2	R *	stg¹		0	--	--	--	--
rs104894644^1,2	C	pathogenic¹	42623846(-)	`AAGTGA/GTGGCG`	2	* W	stg¹		0	--	--	--	--
rs17885979^1,2	C	--	41831306(-)	`TTTTT-/GGCAAT`	1	--	ut3¹		0	--	--	--	--
rs17881550^1,2	C	--	41831443(-)	`TAATAG/-CTGCC`	1	--	ut3¹		2		NA CSA	4
rs71701882^1,2	C	--	41831444(+)	`GCAGT-/CATTAT`	1	--	ut3¹		0	--	--	--	--
rs10534024^1,2	C,F	--	41837506(+)	`GACTG-/TCCTCCTT`	1	--	us2k¹ trp³		1		EU	718
rs10570485^1,2	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

(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.)
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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

10 diseases for SOST:
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craniodiaphyseal dysplasia, autosomal dominant sost-related sclerosing bone dysplasias sclerosteosis 1 craniodiaphyseal dysplasia

type 2 diabetes mellitus osteoporosis

3 inferred disease relationships from the University of Copenhagen DISEASES database for SOST:

Hyperostosis Osteoporosis Osteosclerosis

Find genes that share disorders with SOST About GenesLikeMe

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

(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)

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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)
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)
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)
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)
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)
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)
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)
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)
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)
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)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 50964	HGNC: 13771	AceView: SOST	Ensembl:ENSG00000167941	euGenes: HUgn50964
ECgene: SOST	Kegg: 50964	H-InvDB: SOST

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for SOST	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://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.)

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

GeneCards and IP:
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(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, 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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