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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SOST Gene

protein-coding GIFtS: 53
GCID: GC17M041841

sclerostin

(Previous name: sclerosteosis )

Explore 27 diseases affiliated with
SOST via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Sclerostin¹
VBCH¹ ² 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

(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:

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)

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)

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000017.10 NC_018928.1 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

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

SOST Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_079513.1

ENSEMBL proteins:

ENSP00000301691

Human Recombinant Protein Products for SOST:

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	R&D Systems Recombinant & Natural Proteins for SOST (SOST/Sclerostin)
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	GenScript Custom Purified and Recombinant Proteins Services for SOST
	Novus Biologicals SOST Lysate
	Sino Biological Recombinant Protein for SOST
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for SOST

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

SOST for ontologies About GeneDecksing

SOST Antibody Products:

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	Novus Biologicals SOST Antibodies
	Abcam antibodies for SOST
	Uscn Antibodies for SOST
	Search ThermoFisher Antibodies for SOST

Assay Products for SOST:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	R&D Systems ELISAs for SOST (SOST/Sclerostin)
	GenScript Custom Assay Services for SOST
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for SOST

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

SOST for domains About GeneDecksing

2 InterPro domains/families:

IPR015665 SOST

IPR008835 Sclerostin/SOSTDC1

Graphical View of Domain Structure for InterPro Entry Q9BQB4

ProtoNet protein and cluster: Q9BQB4

3 Blocks protein families:

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

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 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 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	--

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:
Mouse knock-outs for SOST: Sost^tm1Paz Sost^tm1Lhe Sost^{tm1(KOMP)Vlcg}

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for SOST

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse MicroRNA Expression Plasmids
		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 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SOST (see all 7) OriGene shRNA RFP: SOST OriGene siRNA: SOST
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SOST
		Sirion Biotech Custom design and validation of potent shRNA sequences against SOST

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

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SOST (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, 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)
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		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
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		Sirion Biotech Customized stable knockdown cell line services for SOST Sirion Biotech Customized inducible knockdown cell line services for SOST Sirion Biotech Customized stable overexpressing cell line services for SOST Sirion Biotech Customized inducible overexpressing cell line services for SOST

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SOST

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
About This Section

Interactions:

SABiosciences Gene Network Central^TM 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

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

About this table

Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10): 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 receptor signaling pathway	IEA	--
GO:0030279	negative regulation of ossification	NAS	17696759
GO:0030514	negative regulation of BMP signaling pathway	IDA	14633986

SOST for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 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

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 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,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, 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:		Browse 3'-UTR reporter clones for miRNA target validation Browse OriGene MicroRNA Expression Plasmids
		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 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SOST (see all 7) OriGene shRNA RFP: SOST OriGene siRNA: SOST
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		Sirion Biotech Custom design and validation of potent shRNA sequences against SOST

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SOST (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, 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 genome-wide validated SYBR primer pairs in human, mouse, rat for SOST Browse OriGene validated miRNA SYBR primer pairs
		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 cDNA 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 AF184211 BX282099 AF326739 NM_025237 AI498457 BU617598 AY358627

AA969408 BF431247 AI580267 AW771508 AI383985 AI498691 AF170491 BU621845

AI768408 AA393768 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™, 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
CGAP TAG: ACATATGAAA

About this image

SOST expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

Sclerotome cells (Primary Cell)

Bone, Cartilage, Somite

Cardiomyocyte-like cells (Spontaneous differen...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

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

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		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 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 4/11 species (see all 11) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Sost^{1 , 5}	sclerostin^{1, 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	--	53(a)	1 ↔ 1	6(78083899-78088145)
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 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

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, 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

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
				--	--	--		--	--
rs104894645^1,2	C	pathogenic	40999567(-)	`GGTGGC/TGACCT`	2	R *	stg¹		0	--	--	--	--
rs73987075^1,2	C	--	37594871(+)	`AGATAG/AGGAAA`	1	--	ds500¹		2		WA	120
rs7218013^1,2	C,F,H	--	37595171(+)	`AGAAAT/AGACGT`	1	--	ds500¹		13		NS EA NA WA CSA	1364
rs112432349^1,2		--	37595175(+)	`ATGACG/ATCATG`	1	--	ds500¹		1		CSA	2
rs202088412^1,2	C	--	37595415(+)	`ATTGCA/CAAAAA`	1	--	ut3¹		0	--	--	--	--
rs75335214^1,2	C,F	--	37595424(+)	`AAAACG/CACCAG`	1	--	ut3¹		1		WA	118
rs17886183^1,2	C,F	--	37595815(-)	`NNNNTG/ATTTTA`	1	--	ut3¹		4		CSA WA	123
rs75901553^1,2	C,F	--	37595953(+)	`GTGGAG/AGTAGC`	1	--	ut3¹		1		NA	120
rs17881518^1,2	C,F	--	37596257(-)	`GGGTGG/AAGGTG`	1	--	ut3¹ ese³		1		WA	118
rs17886734^1,2	C	--	37597607(-)	`TCAGCC/TATATG`	1	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for SOST (41831099 - 41836156 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for SOST: --
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

(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.)
About This Section

SOST for disorders           About GeneDecksing

OMIM gene information: 605740
OMIM disorders: 269500  239100
UniProtKB/Swiss-Prot: SOST_HUMAN, Q9BQB4

Defects in SOST are the cause of sclerosteosis type 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

Defects in SOST are a cause of van Buchem disease (VBCH) [MIM:239100]. 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=A 52 kb deletion downstream of SOST results in SOST transcription suppression

causing van Buchem disease

Defects in SOST are a cause of 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=Heterozygous mutations located in the

secretion signal of the SOST gene prevent sclerostin secretion and can be responsible for craniodiaphyseal dysplasia

20/27 diseases for SOST (see all 27): About MalaCards

ankylosing spondylitis renal osteodystrophy optic atrophy neuroblastoma

osteosclerosis primary hyperparathyroidism spondylitis osteomalacia

syndactyly hyperparathyroidism osteoporosis genetic disease

osteoarthritis periodontitis blindness osteosarcoma

4 diseases from the University of Copenhagen DISEASES database for SOST:

Hyperostosis Osteoporosis Hypercementosis Osteosclerosis

10 Novoseek 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

SOST-Related Sclerosing Bone Dysplasias

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 9 sources (see all 172):
(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. (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. (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. (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. (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. (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. (2002)
Bone overgrowth-associated mutations in the LRP4 gene impair sclerostin facilitator function. (PubMed id 21471202)^{1, 2} Leupin O.... Kneissel M. (2011)
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)
First missense mutation in the SOST gene causing sclerosteosis by loss of sclerostin function. (PubMed id 20583295)^{1, 2} Piters E.... Papapoulos S. (2010)
SOST is a ligand for LRP5/LRP6 and a Wnt signaling inhibitor. (PubMed id 15908424)^{1, 2} Semenov M....He X. (2005)

(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	H-InvDB: SOST

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or 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/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.)

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

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