SOST - sclerostin Gene

Also Known as CDD; VBCH; DAND6; SOST1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 50964

About SOST

Cytogenetic location: 17q21.31 Genomic coordinates (GRCh38): 17:43,753,738-43,758,791 (from NCBI)

This gene has 1 transcript (splice variant), 189 orthologues, 1 paralogue and is associated with 5 phenotypes. Restricted expression toward kidney (RPKM 7.5).

Summary

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]

SOST Products (1)

mRNA	Protein	Name
NM_025237.3	NP_079513.1	sclerostin precursor

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables DNA-binding transcription factor binding	IDA IDA: Inferred from direct assay	17696759	GOA
enables carbohydrate binding	EXP EXP: Inferred from Experiment	19208630	GOA
enables molecular function inhibitor activity	EXP EXP: Inferred from Experiment	19208630	GOA
enables molecular function inhibitor activity	IPI IPI: Inferred from physical interaction	21944579	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15908424	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cellular response to parathyroid hormone stimulus	IDA IDA: Inferred from direct assay	17696759	GOA
acts upstream of or within negative regulation of BMP signaling pathway	IDA IDA: Inferred from direct assay	14633986	GOA
involved in negative regulation of canonical Wnt signaling pathway	IDA IDA: Inferred from direct assay	15908424	GOA
involved in negative regulation of protein-containing complex assembly	IDA IDA: Inferred from direct assay	15908424	GOA
involved in positive regulation of DNA-templated transcription	IMP IMP: Inferred from mutant phenotype	17696759	GOA
involved in response to mechanical stimulus	IEP IEP: Inferred from expression pattern	21723865	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SOST Protein Structure

Sclerostin

0
100
200
213 a.a.

Protein Preferred Names	Protein Names
sclerostin

SOST Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SOST	Q9BQB4	LRP5	Homo sapiens	O75197	TAP	21471202
Intra	SOST	Q9BQB4	LRP5	Homo sapiens	O75197	Anti Tag CoIP	33961781
Intra	SOST	Q9BQB4	LRP5	Homo sapiens	O75197	Anti Tag CoIP	28514442
Intra	SOST	Q9BQB4	LRP4	Homo sapiens	O75096	TAP	21471202
Intra	SOST	Q9BQB4	LRP4	Homo sapiens	O75096	Anti Tag CoIP	33961781
Intra	SOST	Q9BQB4	LRP4	Homo sapiens	O75096	Anti Tag CoIP	28514442
Intra	SOST	Q9BQB4	PLEKHF2	Homo sapiens	Q9H8W4	Y2H Prey Pooling	32296183
Intra	SOST	Q9BQB4	PLEKHF2	Homo sapiens	Q9H8W4	Validated Y2H	32296183
Intra	SOST	Q9BQB4	PLEKHF2	Homo sapiens	Q9H8W4	Y2H Array	32296183
Intra	SOST	Q9BQB4	LRP6	Homo sapiens	O75581	TAP	21471202
Intra	SOST	Q9BQB4	LRP6	Homo sapiens	O75581	Pull Down	15908424
Intra	SOST	Q9BQB4	LRP6	Homo sapiens	O75581	Anti Tag CoIP	33961781
Intra	SOST	Q9BQB4	LRP6	Homo sapiens	O75581	Anti Tag CoIP	28514442

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant SOST Proteins

Cat. No.	Product Name	Accession	Purity
HY-P70756	SOST Protein, Human (HEK293, His)	Q9BQB4-1 (Q24-Y213)	≥ 95%, as determined by reducing SDS-PAGE.
HY-P78209	SOST Protein, Human (Biotinylated, HEK293, His-Avi)	Q9BQB4-1 (Q24-Y213)	≥ 95%, as determined by Bis-Tris PAGE.
HY-P78804	SOST Protein, Human (Biotinylated, HEK293, His, Avi)	Q9BQB4 (Q24-Y213)	≥ 95%, as determined by reducing SDS-PAGE.

SOST Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P811321	Sclerostin Antibody	WB, IHC-P	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Sclerosteosis 1	SOST1 Sost Cortical Hyperostosis With Syndactyly Sclerosteosis Sclerosteosis, Type 1
Craniodiaphyseal Dysplasia, Autosomal Dominant	CDD Autosomal Dominant Craniodiaphyseal Dysplasia Schaefer Stein Oshman Syndrome Craniodiaphyseal Dysplasia Autosomal Dominant
Van Buchem Disease	Hyperostosis Corticalis Generalisata Hyperphosphatasemia Tarda VBCH Sost-Related Sclerosing Bone Dysplasia Endosteal Hyperostosis Autosomal Recessive Sclerosteosis Endosteal Hyperostosis, Autosomal Recessive Hyperotosis Corticalis Generalisata Familiaris Sost Sclerosing Bone Dysplasia Smith-Lemli-Opitz Syndrome
Sclerosteosis	Cortical Hyperostosis With Syndactyly Sost Cortical Hyperostosis-Syndactyly Syndrome
Craniodiaphyseal Dysplasia	CDD Schaefer Stein Oshman Syndrome Craniodiaphyseal Dysplasia, Dominant Dominantly Inherited Craniodiaphyseal Dysplasia
Hyperostosis	Hypertrophy Of Bone Bone Hypertrophy Bone Thickening Periosteum Thickening
Bone Disease	Bone Diseases Skeletal Disease Skeletal Disorder Disorder Of Skeletal System
Osteoporosis	Postmenopausal Osteoporosis Osteoporosis, Postmenopausal Bone Mineral Density Quantitative Trait Locus Bmnd Osteoporosis, Involutional Osteoporosis, Susceptibility To Osteoporosis, Postmenopausal, Susceptibility Bone Mineral Density Variation Qtl, Osteoporosis OSTEOP Involutional Osteoporosis Senile Osteoporosis Osteoporosis Postmenopausal Bone Mineral Density, Quantitative Trait Locus Osteoporosis, Senile Idiopathic Osteoporosis Bone Rarefaction Nos Type 1 Osteoporosis
Sclerosteosis 2	SOST2 Sclerosteosis, Type 2
Mccune-Albright Syndrome	Mass Syndrome Polyostotic Fibrous Dysplasia MAS Fibrous Dysplasia Of Bone Albright Syndrome Mass Phenotype Overlap Connective Tissue Disease Mccune Albright Syndrome Osteitis Fibrosa Disseminata OCTD Albright'S Disease Pfd Pofd Albright'S Syndrome Mccune-Albright Syndrome, Somatic, Mosaic Albright'S Disease Of Bone Albright'S Syndrome With Precocious Puberty Albright-Mccune-Sternberg Syndrome Albright-Sternberg Syndrome Fibrous Dysplasia With Pigmentary Skin Changes And Precocious Puberty Gonadotropin-Independent Female-Limited Sexual Precocity Fibrous Dysplasia Polyostotic Fibrous Dysplasia, Polyostotic
Endosteal Hyperostosis, Autosomal Dominant	Osteosclerosis Worth Syndrome Osteosclerosis, Autosomal Dominant Hyperostosis, Endosteal Endosteal Hyperostosis, Worth Type Worth Disease Autosomal Dominant Endosteal Hyperostosis Autosomal Dominant Osteosclerosis, Worth Type Hyperostosis Corticalis Generalisata, Benign Form Of Worth, With Torus Palatinus Autosomal Dominant Osteosclerosis Benign Form Of Worth Hyperostosis Corticalis Generalisata With Torus Platinus Worth'S Syndrome Worth Type Autosomal Dominant Osteosclerosis Hyperostosis Corticalis Generalisata, Benign Form Of Worth With Torus Palatinus Osteosclerosis, Autosomal Dominant, Worth Type WENHY Endosteal Hyperostosis Autosomal Dominant Hyperostosis Corticalis Generalisata Benign Form Of Worth With Torus Palatinus Osteosclerosis Autosomal Dominant Acquired Osteosclerosis
Osteomalacia	Adult Rickets
Glucocorticoid-Induced Osteoporosis	Steroid-Induced Osteoporosis
Bone Remodeling Disease
Spondylitis
Hypophosphatemia	Vitamin D-Resistant Rickets Hereditary Hypophosphatemic Rickets Vdrr Vitamin D Resistant Rickets Hypophosphatemic Rickets, X-Linked Dominant Familial Hypophosphatemic Rickets
Bone Resorption Disease	Bone Resorption
Osteoporosis-Pseudoglioma Syndrome	OPPG Ops Osteoporosis With Pseudoglioma Osteogenesis Imperfecta, Ocular Form Ocular Form Of Osteogenesis Imperfecta Osteogenesis Imperfecta Ocular Form Osteoporosis Pseudoglioma Syndrome Pseudoglioma With Bone Fragility
Osteogenesis Imperfecta, Type Vi	OI6 Osteogenesis Imperfecta Type 6 Osteogenesis Imperfecta Type Vi Oi Type Vi Oi Type 6 Osteogenesis Imperfecta Type Serpinfi- Related Osteogenesis Imperfecta Osteogenesis Imperfecta 6 Oi-Vi
Hyperparathyroidism	Hyperparathyroidism And Other Disorders Of Parathyroid Gland Parathyroid Hyperfunction Hpth - [Hyperparathyroidism] Parathyroid Gland Hyperfunction Parathyroid Glandular Hyperfunction
Ectodermal Dysplasia 13, Hair/Tooth Type	ECTD13 Ectodermal Dysplasia 13
Osteogenesis Imperfecta, Type Vii	Osteogenesis Imperfecta Type 7 Osteogenesis Imperfecta Type Vii OI7 Oi Type Vii Oi, Type Vii Osteogenesis Imperfecta, Type Iib, Formerly Oi2b, Formerly Oi Type 7 Osteogenesis Imperfecta 7 Oi2b Oi-Iib Oi Type Iib Oi-Vii Osteogenesis Imperfecta Perinatal Lethal Autosomal Recessive Osteogenesis Imperfecta Type Ii Autosomal Recessive Osteogenesis Imperfecta Type Iib
Cenani-Lenz Syndactyly Syndrome	Syndactyly Type 7 Cenani Syndactylism Cenani-Lenz Syndactyly CLSS Syndactyly Cenani Lenz Type Cenani-Lenz Syndrome Syndactyly, Type Vii Cenani-Lenz Type Syndactyly Cenani Syndactyly Syndactyly Type Vii
Chronic Kidney Disease	Chronic Renal Disease Chronic Kidney Failure Ckd Chronic Renal Failure Kidney Failure, Chronic Chronic Renal Failure Syndrome Crf Renal Failure - Chronic Renal Failure Chronic Chronic Kidney Diseases Chronic Kidney Disease Stage 5 Ckd - [Chronic Kidney Disease] Crf - [Chronic Renal Failure] Chronic Kidney Impairment Chronic Renal Impairment Chronic Kidney Shutdown Chronic Hypoxic Kidney Failure Chronic Kidney Collapse Chronic Renal Insufficiency Chronic Kidney Toxaemia Chronic Kidney Hypofunction Chronic Renal Suppression Chronic Renal Failure, Stage 5 Ckd - [Chronic Kidney Disease] Stage 5 End Stage Kidney Failure End Stage Renal Failure End Stage Kidney Disease End Stage Renal Disease End Stage Chronic Renal Failure Esrf - [End Stage Renal Failure] Esrd - [End Stage Renal Diseases] Egfr - [Estimated Glomerular Filtration Rate] < 15 Ml/Min/1.73m²
Ischemic Bone Disease
Pycnodysostosis	Pyknodysostosis PKND Pycd Toulouse-Lautrec Syndrome
Diffuse Idiopathic Skeletal Hyperostosis	Hyperostosis, Diffuse Idiopathic Skeletal Ankylosing Vertebral Hyperostosis Dish Disseminated Idiopathic Skeletal Hyperostosis Forestier Disease Forestier'S Disease Hyperostosis Diffuse Idiopathic Skeletal
Osteogenesis Imperfecta, Type Xv	Osteogenesis Imperfecta Type 15 OI15 Osteogenesis Imperfecta Type Xv Oi, Type Xv Osteogenesis Imperfecta 15 Oi Type Xv Oi-Xv
Parathyroid Gland Disease	Parathyroid Diseases Disease Of Parathyroid Glands Parathyroid Disease
Osteitis Fibrosa	Osteitis Fibrosa Cystica Hyperparathyroid Bone Disease Osteitis Fibrosa Cystica Generalisata Von Recklinghausen'S Bone Disease Osteitis Fibrosa Disseminata
Osteopathia Striata With Cranial Sclerosis	Hyperostosis Generalisata With Striations Robinow-Unger Syndrome OSCS Osteopathia Striata Cranial Sclerosis Osteopathia Striata-Cranial Sclerosis Syndrome Horan-Beighton Syndrome Os-Cs Osteopathia Striata - Cranial Sclerosis Voorhoeve Disease Osc
Osteoporosis, Juvenile	Idiopathic Juvenile Osteoporosis Idiopathic Osteoporosis Juvenile Osteoporosis Ijo
Hypophosphatemic Rickets, X-Linked Dominant	X-Linked Hypophosphatemia Xlh Vitamin D-Resistant Rickets, X-Linked X-Linked Hypophosphatemic Rickets XLHR Hyp Hypophosphatemic Vitamin D-Resistant Rickets Hpdr X-Linked Dominant Hypophosphatemic Rickets Familial Hypophosphatemic Rickets Hypophosphatemia, X-Linked Hypophosphatemia, Vitamin D-Resistant Rickets Hypophosphatemic Rickets X-Linked Dominant X-Linked Vitamin D-Resistant Rickets Hypophophatemia, X-Linked Hypophophatemic Vitamin D-Resistant Rickets Hypophosphatemia X-Linked Vitamin D-Resistant Rickets X-Linked Vitamin D-Resistant Rickets Rickets, X-Linked Hypophosphatemic
Hypophosphatasia, Childhood	Childhood Hypophosphatasia Childhood-Onset Hypophosphatasia HPPC Childhood-Onset Phosphoethanolaminuria Childhood-Onset Rathburn Disease Childhood-Onset Rathbun Disease
Exostosis	Osteophyte Exostoses Orbital Exostosis Exostosis Of Orbit Bone Spur Bony Outgrowth Swimmer'S Exostosis Osteophytes External Exotoses Cartilaginous Exostosis
Brittle Bone Disorder	Osteogenesis Imperfecta Brittle Bone Disease Fragilitas Ossium Osteopsathyrosis Lobstein Disease Oi Vrolik Disease Lobstein'S Disease Lobstein'S Syndrome Vrolik'S Disease Porak And Durante Disease Glass Bone Disease Osteogenesis Imperfecta, Dominant Perinatal Lethal Osteogenesis Imperfecta, Recessive Perinatal Lethal Brittle Bone Syndrome Oi - [Osteogenesis Imperfecta] Ossium Fragility Osteitis Fragilitans Bony Fragility Blue Sclera With Fragility Of Bone And Deafness White Blue Sclera - Fragility Of Bone - Deafness
Ankylosis
Mammary Paget'S Disease	Paget'S Disease Mammary Paget Disease Paget'S Disease Of The Breast Paget Disease Of The Breast Paget'S Disease Of The Nipple Paget'S Disease, Mammary Paget Cell Neoplasm Paget Disease Of The Nipple Pagets Disease Mammary Osteitis Deformans
Familial Expansile Osteolysis	FEO Mccabe Disease Osteolysis, Familial Expansile Polyostotic Osteolytic Dysplasia, Hereditary Expansile Hepod Expansile Osteolysis, Familial Eof Hereditary Expansile Polyostotic Osteolytic Dysplasia
Hypophosphatasia	Phosphoethanolaminuria Childhood Hypophosphatasia Deficiency Of Alkaline Phosphatase Hypophospatasia, Childhood Hypophosphatasia Mild Phosphoethanol-Aminuria Rathburn Disease Hpp Rathbun Disease Hypophosphatasia, Childhood Infantile Hypophosphatasia
Bone Development Disease
Enthesopathy	Rheumatism
Camurati-Engelmann Disease	Progressive Diaphyseal Dysplasia Ced Engelmann Disease Diaphyseal Dysplasia 1, Progressive Pdd Diaphyseal Dysplasia Dpd1 Camurati-Engelmann Syndrome CAEND Engelman'S Disease Diaphyseal Hyperostosis Diaphyseal Osteosclerosis
Phosphorus Metabolism Disease	Phosphorus Metabolism Disorders Disorder Of Phosphorus Metabolism Phosphorus Disorder Phosphorus Metabolism Disorder
Tetraamelia Syndrome	Tetra-Amelia Syndrome Tetraamelia-Multiple Malformations Syndrome Tetra-Amelia Tetra-Amelia, Autosomal Recessive Tetraamelia, Autosomal Recessive Total Amelia Zimmer Phocomelia Tetams Zimmer Taub Sova Syndrome
Craniometaphyseal Dysplasia, Autosomal Dominant	Craniometaphyseal Dysplasia CMDD Cmdj Cmd Autosomal Dominant Craniometaphyseal Dysplasia Craniometaphyseal Dysplasia, Jackson Type Craniometaphyseal Dysplasia Jackson Type Autosomal Recessive Craniometaphyseal Dysplasia Cmdr Dysplasia, Craniometaphyseal, Autosomal Dominant Craniometaphyseal Dysplasia, Autosomal Recessive Type
Metaphyseal Dysplasia	Bakwin-Krida Syndrome Pyle'S Disease Pyle-Cohn Syndrome
Primary Hyperparathyroidism	Familial Primary Hyperparathyroidism Hyperparathyroidism, Primary Hyperparathyroidism Primary Hypocalciuric Hypercalcemia, Familial, Type 1 Familial Benign Hypercalcemia Familial Hyperparathyroidism Parathyroid Enlargement
Osteogenesis Imperfecta, Type I	Osteogenesis Imperfecta Type I OI1 Oi, Type I Osteogenesis Imperfecta Tarda Osteogenesis Imperfecta With Blue Sclerae Osteogenesis Imperfecta Type 1 Adair-Dighton Syndrome Mild Osteogenesis Imperfecta Non-Deforming Osteogenesis Imperfecta Oi Type 1 Van Der Hoeve Syndrome Classic Non-Deforming Oi With Blue Sclerae Osteogenesis Imperfecta 1 Oi-I Osteopenic Non-Fracture Syndrome Osteogenesis Imperfecta, Mild Osteogenesis Imperfecta Lobstein'S Disease
Osteogenesis Imperfecta, Type Iv	Osteogenesis Imperfecta Type 4 Osteogenesis Imperfecta Type Iv OI4 Oi, Type Iv Osteogenesis Imperfecta With Normal Sclerae Oi Type Iv Oi Type 4 Osteogenesis Imperfecta With Normal Sclera Common Variable Oi With Normal Sclerae Osteogenesis Imperfecta 4 Oi-Iv
Mineral Metabolism Disease	Mineral Metabolism Disorder Disorder Of Mineral Metabolism
Spondyloarthropathy	Spondylarthropathies Spondarthropathy Spondylarthrosis Spondyloarthropathy, Susceptibility To Spondylarthritis
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
Diabetes Mellitus	Diabetes
Breast Adenocarcinoma	Mammary Adenocarcinoma Adenocarcinoma Of Breast
Chromosome 2q35 Duplication Syndrome	Syndactyly Syndactyly Type 1 Sdty1 Zygodactyly Syndactyly, Type I Sd1 Syndactyly, Type 1, With Or Without Craniosynostosis Symphalangism Non-Syndromic Syndactyly Symphalangy Webbing Of Digits Syndactyly, Type 1
Connective Tissue Disease	Connective Tissue Diseases Connective Tissue Disorder Abnormality Of Connective Tissue Disorder Of Connective Tissue Connective Tissue Disorders

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-101149	YKL-05-093	Inhibitor	/	Unkown
HY-RS13578	SOST Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS16993	Sost Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23436	Sost Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Inhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P992113	Evabosmig	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SOST	MGD	MGI:1921749
Rattus norvegicus	SOST	RGD	RGD:69358
Felis catus	SOST	VGNC	VGNC:99458
Bos taurus	SOST	VGNC	VGNC:35135
Macaca mulatta	SOST	VGNC	VGNC:104657
Canis familiaris	SOST	VGNC	VGNC:46667
Others	SOST	NCBI