SOST - sclerostin Gene

Homo sapiens

Also known as CDD; VBCH; DAND6; SOST1

Gene ID: 50964 | Gene type: protein coding

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	Reference	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	Reference	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

Recombinant SOST Proteins

Cat. No.	Product Name	Accession	Purity
HY-P70756	SOST Protein, Human (HEK293, His)	Q9BQB4-1 (Q24-Y213)	≥95%
HY-P78209	SOST Protein, Human (Biotinylated, HEK293, His-Avi)	Q9BQB4-1 (Q24-Y213)	≥95%
HY-P78519	SOST Protein, Human (HEK293, His-Avi)	Q9BQB4-1 (Q24-Y213)	≥95%
HY-P78804	SOST Protein, Human (Biotinylated, HEK293, His, Avi)	Q9BQB4 (Q24-Y213)	≥95%

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13578	SOST Human Pre-designed siRNA Set A	Pre-designed Sets	/	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
Macaca fascicularis	SOST	NCBI	NCBI:102130808
Others	SOST	NCBI