SP7 - Sp7 transcription factor Gene

Also Known as OSX; OI11; OI12; osterix

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 121340

About SP7

Cytogenetic location: 12q13.13 Genomic coordinates (GRCh38): 12:53,326,575-53,344,793 (from NCBI)

This gene has 4 transcripts (splice variants), 187 orthologues, 22 paralogues and is associated with 2 phenotypes. Low expression observed in reference dataset.

Summary

This gene encodes a member of the Sp subfamily of Sp/XKLF transcription factors. Sp family proteins are sequence-specific DNA-binding proteins characterized by an amino-terminal trans-activation domain and three carboxy-terminal zinc finger motifs. This protein is a bone specific transcription factor and is required for osteoblast differentiation and bone formation.[provided by RefSeq, Jul 2010]

SP7 Products (3)

mRNA	Protein	Name
NM_001173467.3	NP_001166938.1	transcription factor Sp7 isoform a
NM_001300837.2	NP_001287766.1	transcription factor Sp7 isoform b
NM_152860.2	NP_690599.1	transcription factor Sp7 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in hematopoietic stem cell differentiation	IDA IDA: Inferred from direct assay	18932205	GOA
involved in osteoblast differentiation	IDA IDA: Inferred from direct assay	18932205	GOA
involved in positive regulation of stem cell differentiation	IDA IDA: Inferred from direct assay	18932205	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	18932205	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	18471237	GOA
located in nucleus	IDA IDA: Inferred from direct assay	18471237	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

SP7 Protein Structure

zf-H2C2_2

0
100
200
300
400
431 a.a.

Protein Preferred Names	Protein Names
transcription factor Sp7	zinc finger protein osterix

SP7 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SP7	Q8TDD2	FAM124B	Homo sapiens	Q9H5Z6-2	Validated Y2H	32296183
Intra	SP7	Q8TDD2	TRIM62	Homo sapiens	Q9BVG3	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

SP7 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81125	SP7/Osterix Antibody (YA3539)	WB, IHC-P, IHC-F, IF-Tissue	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Osteogenesis Imperfecta, Type Xii	Osteogenesis Imperfecta Type 12 OI12 Osteogenesis Imperfecta Type Xii Oi, Type Xii Osteogenesis Imperfecta 12 Oi Type Xii Oi-Xii Osteogenesis Imperfecta Sillence Type Iii
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
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
Dentinogenesis Imperfecta	Hereditary Opalescent Dentin Dentinogenesis Imperfecta Without Osteogenesis Imperfecta Dgi Capdepont Teeth Dgi Without Oi Di Non-Syndromic Dgi Non-Syndromic Dentinogenesis Imperfecta Opalescent Teeth Without Oi Opalescent Teeth Without Osteogenesis Imperfecta Opalescent Dentin
Sclerosteosis 1	SOST1 Sost Cortical Hyperostosis With Syndactyly Sclerosteosis Sclerosteosis, Type 1
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
Bone Resorption Disease	Bone Resorption
Extraosseous Osteosarcoma	Extraskeletal Osteosarcoma Extraskeletal Osteogenic Sarcoma
Bone Remodeling Disease
Glucocorticoid-Induced Osteoporosis	Steroid-Induced Osteoporosis
Bone Disease	Bone Diseases Skeletal Disease Skeletal Disorder Disorder Of Skeletal System
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
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
Bone Development Disease
Cleidocranial Dysplasia	Cleidocranial Dysostosis CLCD Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly CCD Marie-Sainton Disease Dysplasia Cleidocranial Dento-Osseous Dysplasia Marie-Sainton Syndrome Dysplasia, Cleidocranial
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
Ischemic Bone Disease
Sclerosteosis	Cortical Hyperostosis With Syndactyly Sost Cortical Hyperostosis-Syndactyly Syndrome
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
Metachondromatosis	METCDS MC
Failure Of Tooth Eruption, Primary	Primary Failure Of Tooth Eruption PFE Primary Retention Of Teeth Unerupted Second Primary Molar Dental Noneruption Familial Posterior Openbite Malocclusion Primary Failure Of Tooth Eruption, Nonsyndromic Posterior Openbite Malocclusion, Familial Nonsyndromic Primary Failure Of Eruption Dental Non-Eruption Non-Syndromic Primary Failure Of Eruption Tooth Eruption, Failure, Primary
Tooth Resorption
Periapical Periodontitis	Apical Periodontitis Periodontitis Apical
Fibrodysplasia Ossificans Progressiva	Myositis Ossificans Progressiva Progressive Myositis Ossificans FOP Progressive Ossifying Myositis Myositis Ossificans Stone Man Syndrome Man Of Stone Myositis Ossificans Progressive Diffuse Progressive Ossifying Polymyositis Fibrodysplasia Ossificans Congenita Myositis Ossificans Progressiva, Site Unspecified Münchmeyer Disease Fop - [Fibrodysplasia Ossificans Progressiva] Progressive Myositis Ossificans Calcification
Osteoporosis, Juvenile	Idiopathic Juvenile Osteoporosis Idiopathic Osteoporosis Juvenile Osteoporosis Ijo
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
Ankylosis
Bruck Syndrome	Osteogenesis Imperfecta With Congenital Joint Contractures Osteogenesis Imperfecta-Congenital Joint Contractures Syndrome
Cole-Carpenter Syndrome	Cole Carpenter Syndrome Bone Fragility Craniosynostosis Proptosis Hydrocephalus Bone Fragility With Craniosynostosis, Ocular Proptosis, Hydrocephalus, And Distinctive Facial Features Bone Fragility-Craniosynostosis-Proptosis-Hydrocephalus Syndrome
Osteogenic Sarcoma	Osteosarcoma OSRC Osteosarcoma, Somatic Neoplasms, Bone Tissue Bone Tissue Neoplasm Osteoid Sarcoma Skeletal Sarcoma Osteosarcoma Of Bone Bone Sarcoma
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
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
Cleft Palate, Isolated	Cleft Palate Isolated Cleft Palate CPI Cp Palatoschisis Cleft Palate Isolated Uranostaphyloschisis Congenital Fissure Of Palate Cleft Of Secondary Palate
Robinow Syndrome	Acral Dysostosis With Facial And Genital Abnormalities Fetal Face Syndrome Robinow Dwarfism Mesomelic Dwarfism-Small Genitalia Syndrome Robinow-Silverman-Smith Syndrome Costovertebral Segmentation Defect With Mesomelia Covesdem Syndrome Robinow'S Syndrome Robinow-Silverman Syndrome
Craniosynostosis	Premature Closure Of Cranial Sutures Craniostenosis Craniosynostosis Syndrome Cso Craniosynostoses Congenital Ossification Of Cranial Sutures Congenital Ossification Of Sutures Of Skull Craniostosis Imperfect Fusion Of Skull Congenital Imperfect Closure Skull Imperfect Closure Skull Premature Closure Cranium Sutures Deficiency Of Craniofacial Axis
Breast Adenocarcinoma	Mammary Adenocarcinoma Adenocarcinoma Of Breast
Orofacial Cleft	Cleft, Orofacial
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 (6)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-W019901B	Anhydrous calcium sulfate (97%)	Activator	99.40%	Unkown
HY-15977	(S)-P7C3-OMe		/	Unkown
HY-162568	7-tert-Butylfascaplysin		/	Unkown
HY-RS13610	SP7 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17939	Sp7 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24410	Sp7 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	SP7	VGNC	VGNC:46690
Bos taurus	SP7	VGNC	VGNC:35157
Rattus norvegicus	SP7	RGD	RGD:631377
Macaca mulatta	SP7	VGNC	VGNC:77937
Mus musculus	SP7	MGD	MGI:2153568
Felis catus	SP7	VGNC	VGNC:65589
Others	SP7	NCBI