InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SP7

Summary

InnateDB Protein

IDBP-36584.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SP7

Protein Name

Sp7 transcription factor

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000302812

InnateDB Gene

IDBG-36582 (SP7)

Protein Structure

UniProt Annotation

Function

Transcriptional activator essential for osteoblast differentiation. Binds to SP1 and EKLF consensus sequences and to other G/C-rich sequences (By similarity). {ECO:0000250}.

Subcellular Localization

Nucleus {ECO:0000250}.

Disease Associations

Osteogenesis imperfecta 12 (OI12) [MIM:613849]: A form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI12 is an autosomal recessive form characterized by recurrent fractures, mild bone deformations, generalized osteoporosis, delayed teeth eruption, no dentinogenesis imperfecta, normal hearing, and white sclerae. {ECO:0000269PubMed:20579626}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Restricted to bone-derived cell. {ECO:0000269PubMed:15474293}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	6 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0017151	DEAD/H-box RNA helicase binding
GO:0046872	metal ion binding

Biological Process

GO:0001649	osteoblast differentiation
GO:0006351	transcription, DNA-templated
GO:0006357	regulation of transcription from RNA polymerase II promoter
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0060218	hematopoietic stem cell differentiation
GO:2000738	positive regulation of stem cell differentiation