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

    Gene ID: 170574, updated on 11-Nov-2024

    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
    NEW
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    Genomic context

    See Sp7 in Genome Data Viewer
    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_000081.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_39832 Neighboring gene achalasia, adrenocortical insufficiency, alacrimia Neighboring gene predicted gene, 36246 Neighboring gene CapStarr-seq enhancer MGSCv37_chr15:102212079-102212188 Neighboring gene STARR-seq mESC enhancer starr_39837 Neighboring gene STARR-seq mESC enhancer starr_39838 Neighboring gene STARR-seq mESC enhancer starr_39839 Neighboring gene STARR-seq mESC enhancer starr_39841 Neighboring gene trans-acting transcription factor 1 Neighboring gene STARR-seq mESC enhancer starr_39842 Neighboring gene STARR-positive B cell enhancer ABC_E7423 Neighboring gene anti-Mullerian hormone type 2 receptor

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC130562

    Gene Ontology Provided by MGI

    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

    Preferred Names
    transcription factor Sp7
    Names
    zinc finger protein osterix

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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)

    1. NM_001348205.1NP_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:278297
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:319344
      zf-H2C2_2; Zinc-finger double domain
      cl26464
      Location:3229
      Atrophin-1; Atrophin-1 family
    2. NM_130458.4NP_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:16247
      PHA03247; large tegument protein UL36; Provisional
      sd00017
      Location:296315
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:337362
      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

    1. NC_000081.7 Reference GRCm39 C57BL/6J

      Range
      102265038..102275498 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006520519.5XP_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:16247
      PHA03247; large tegument protein UL36; Provisional
      sd00017
      Location:296315
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:337362
      zf-H2C2_2; Zinc-finger double domain
    2. XM_006520518.5XP_006520581.1  transcription factor Sp7 isoform X1

      Conserved Domains (3) summary
      PHA03247
      Location:14276
      PHA03247; large tegument protein UL36; Provisional
      sd00017
      Location:325344
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:366391
      zf-H2C2_2; Zinc-finger double domain