SP7 - Sp7 transcription factor Gene

Homo sapiens

Also known as OSX; OI11; OI12; osterix

Gene ID: 121340 | Gene type: protein coding

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

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

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

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

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-15977	(S)-P7C3-OMe		/	Unkown
HY-RS13610	SP7 Human Pre-designed siRNA Set A		/	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