Sp7 Sp7 transcription factor 7 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Sp7provided by MGI
Official Full Name: Sp7 transcription factor 7provided by MGI
Primary source: MGI:MGI:2153568
See related: Ensembl:ENSMUSG00000060284 AllianceGenome:MGI:2153568
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: C22; Osx; 6430578P22Rik
Summary: Enables DEAD/H-box RNA helicase binding activity; DNA-binding transcription activator activity, RNA polymerase II-specific; and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in several processes, including cementum mineralization; diphosphate metabolic process; and positive regulation of transcription by RNA polymerase II. Acts upstream of or within osteoblast differentiation and regulation of transcription by RNA polymerase II. Located in cytoplasm and nucleus. Is expressed in several structures, including central nervous system; facial prominence mesenchyme; genitourinary system; jaw; and skeleton. Human ortholog(s) of this gene implicated in osteogenesis imperfecta type 12. Orthologous to human SP7 (Sp7 transcription factor). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in limb E14.5 (RPKM 8.9), frontal lobe adult (RPKM 5.1) and 5 other tissues See more
Orthologs: human all
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Genomic context

Location:: 15 F3; 15 57.51 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	15	NC_000081.7 (102265038..102275498, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	15	NC_000081.6 (102356603..102367035, complement)

Chromosome 15 - NC_000081.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Apolipoprotein E deficiency attenuated osteogenesis via down-regulating osterix.
Title: Apolipoprotein E deficiency attenuated osteogenesis via down-regulating osterix.
The histone acetyltransferase Mof regulates Runx2 and Osterix for osteoblast differentiation.
Title: The histone acetyltransferase Mof regulates Runx2 and Osterix for osteoblast differentiation.
Atf7ip Inhibits Osteoblast Differentiation via Negative Regulation of the Sp7 Transcription Factor.
Title: Atf7ip Inhibits Osteoblast Differentiation via Negative Regulation of the Sp7 Transcription Factor.
Epigenetic Repression of RUNX2 and OSX Promoters Controls the Nonmineralized State of the Periodontal Ligament.
Title: Epigenetic Repression of RUNX2 and OSX Promoters Controls the Nonmineralized State of the Periodontal Ligament.
Sp7 Transgenic Mice with a Markedly Impaired Lacunocanalicular Network Induced Sost and Reduced Bone Mass by Unloading.
Title: Sp7 Transgenic Mice with a Markedly Impaired Lacunocanalicular Network Induced Sost and Reduced Bone Mass by Unloading.
A neomorphic variant in SP7 alters sequence specificity and causes a high-turnover bone disorder.
Title: A neomorphic variant in SP7 alters sequence specificity and causes a high-turnover bone disorder.
Inflammatory osteoclasts-derived exosomes promote bone formation by selectively transferring lncRNA LIOCE into osteoblasts to interact with and stabilize Osterix.
Title: Inflammatory osteoclasts-derived exosomes promote bone formation by selectively transferring lncRNA LIOCE into osteoblasts to interact with and stabilize Osterix.
Skeletal Deformities in Osterix-Cre;Tgfbr2(f/f) Mice May Cause Postnatal Death.
Title: Skeletal Deformities in Osterix-Cre;Tgfbr2(f/f) Mice May Cause Postnatal Death.
C-C chemokine receptor type 6 modulates the biological function of osteoblastogenesis by altering the expression levels of Osterix and OPG/RANKL.
Title: C-C chemokine receptor type 6 modulates the biological function of osteoblastogenesis by altering the expression levels of Osterix and OPG/RANKL.
Zfhx4 regulates endochondral ossification as the transcriptional platform of Osterix in mice.
Title: Zfhx4 regulates endochondral ossification as the transcriptional platform of Osterix in mice.

Submit: New GeneRIF Correction See all GeneRIFs (145)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (6) 1 citation
Targeted (7) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DEAD/H-box RNA helicase binding	IPI Inferred from Physical Interaction more info	PubMed
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to zinc ion starvation	IEA Inferred from Electronic Annotation more info
involved_in cementum mineralization	IDA Inferred from Direct Assay more info	PubMed
involved_in cementum mineralization	IGI Inferred from Genetic Interaction more info	PubMed
involved_in cementum mineralization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in diphosphate metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in gene expression	IDA Inferred from Direct Assay more info	PubMed
involved_in gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in hematopoietic stem cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in hematopoietic stem cell differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within osteoblast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in osteoblast differentiation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of stem cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of stem cell differentiation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in regulation of hydrolase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in response to insulin	IEA Inferred from Electronic Annotation more info
involved_in response to organic cyclic compound	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: transcription factor Sp7

Names: zinc finger protein osterix

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001348205.1 → NP_001335134.1 transcription factor Sp7 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start site compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.

Source sequence(s)

AK032521, AK077375, AY803733, BB375475

Consensus CDS

CCDS88854.1

UniProtKB/TrEMBL

Q5RM08

Related

ENSMUSP00000154859.2, ENSMUST00000229464.2

Conserved Domains (3) summary

sd00017
Location:278 → 297

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam13465
Location:319 → 344

zf-H2C2_2; Zinc-finger double domain

cl26464
Location:3 → 229

Atrophin-1; Atrophin-1 family
NM_130458.4 → NP_569725.1 transcription factor Sp7 isoform 1

See identical proteins and their annotated locations for NP_569725.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AK032521, AK076229, BB375475

Consensus CDS

CCDS37228.1

UniProtKB/Swiss-Prot

Q8C5R3, Q8C6A7, Q8VI67

UniProtKB/TrEMBL

Q2KHK9

Related

ENSMUSP00000077596.6, ENSMUST00000078508.7

Conserved Domains (3) summary

PHA03247
Location:16 → 247

PHA03247; large tegument protein UL36; Provisional

sd00017
Location:296 → 315

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam13465
Location:337 → 362

zf-H2C2_2; Zinc-finger double domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000081.7 Reference GRCm39 C57BL/6J

Range

102265038..102275498 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006520519.5 → XP_006520582.1 transcription factor Sp7 isoform X2

See identical proteins and their annotated locations for XP_006520582.1

UniProtKB/Swiss-Prot

Q8C5R3, Q8C6A7, Q8VI67

UniProtKB/TrEMBL

Q2KHK9

Conserved Domains (3) summary

PHA03247
Location:16 → 247

PHA03247; large tegument protein UL36; Provisional

sd00017
Location:296 → 315

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam13465
Location:337 → 362

zf-H2C2_2; Zinc-finger double domain
XM_006520518.5 → XP_006520581.1 transcription factor Sp7 isoform X1

Conserved Domains (3) summary

PHA03247
Location:14 → 276

PHA03247; large tegument protein UL36; Provisional

sd00017
Location:325 → 344

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam13465
Location:366 → 391

zf-H2C2_2; Zinc-finger double domain