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    SP7 Sp7 transcription factor [ Homo sapiens (human) ]

    Gene ID: 121340, updated on 5-Mar-2024

    Summary

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    Official Symbol
    SP7provided by HGNC
    Official Full Name
    Sp7 transcription factorprovided by HGNC
    Primary source
    HGNC:HGNC:17321
    See related
    Ensembl:ENSG00000170374 MIM:606633; AllianceGenome:HGNC:17321
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    OSX; OI11; OI12; osterix
    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]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See SP7 in Genome Data Viewer
    Location:
    12q13.13
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (53326575..53344793, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (53292290..53310533, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (53720359..53738577, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:53692451-53693650 Neighboring gene MYG1 exonuclease Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6414 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6415 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6416 Neighboring gene aladin WD repeat nucleoporin Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:53717573-53718306 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4504 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:53721571-53722293 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:53722294-53723015 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4505 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4506 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4507 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6417 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6418 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4508 Neighboring gene Sharpr-MPRA regulatory region 10893 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4509 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:53774734-53775492 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6420 Neighboring gene Sp1 transcription factor Neighboring gene CRISPRi-validated cis-regulatory element chr12.1897 Neighboring gene anti-Mullerian hormone receptor type 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. SP7: from Bone Development to Skeletal Disease. Wang JS, et al. Curr Osteoporos Rep, 2023 Apr. PMID 36881265, Free PMC Article
    2. Sp7 Action in the Skeleton: Its Mode of Action, Functions, and Relevance to Skeletal Diseases. Hojo H, et al. Int J Mol Sci, 2022 May 18. PMID 35628456, Free PMC Article
    3. Dominant osteogenesis imperfecta with low bone turnover caused by a heterozygous SP7 variant. Ludwig K, et al. Bone, 2022 Jul. PMID 35367406
    4. Juvenile Paget's Disease From Heterozygous Mutation of SP7 Encoding Osterix (Specificity Protein 7, Transcription Factor SP7). Whyte MP, et al. Bone, 2020 Aug. PMID 32298837, Free PMC Article
    5. Intermittent compressive force promotes osteogenic differentiation in human periodontal ligament cells by regulating the transforming growth factor-β pathway. Manokawinchoke J, et al. Cell Death Dis, 2019 Oct 7. PMID 31591384, Free PMC Article

    See all (92) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. LncRNA urothelial cancer associated 1 promotes the osteogenic differentiation of human periodontal ligament stem cells by regulating the miR-96-5p/Osx axis.
      Title: LncRNA urothelial cancer associated 1 promotes the osteogenic differentiation of human periodontal ligament stem cells by regulating the miR-96-5p/Osx axis.
    2. SP7: from Bone Development to Skeletal Disease.
      Title: SP7: from Bone Development to Skeletal Disease.
    3. 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.
    4. Long Noncoding RNA Metastasis-Associated Lung Adenocarcinoma Transcript 1 Promotes the Osteoblast Differentiation of Human Bone Marrow-Derived Mesenchymal Stem Cells by Targeting the microRNA-96/Osterix Axis.
      Title: Long Noncoding RNA Metastasis-Associated Lung Adenocarcinoma Transcript 1 Promotes the Osteoblast Differentiation of Human Bone Marrow-Derived Mesenchymal Stem Cells by Targeting the microRNA-96/Osterix Axis.
    5. Sp7 Action in the Skeleton: Its Mode of Action, Functions, and Relevance to Skeletal Diseases.
      Title: Sp7 Action in the Skeleton: Its Mode of Action, Functions, and Relevance to Skeletal Diseases.
    6. Dominant osteogenesis imperfecta with low bone turnover caused by a heterozygous SP7 variant.
      Title: Dominant osteogenesis imperfecta with low bone turnover caused by a heterozygous SP7 variant.
    7. Klotho in Osx(+)-mesenchymal progenitors exerts pro-osteogenic and anti-inflammatory effects during mandibular alveolar bone formation and repair.
      Title: Klotho in Osx(+)-mesenchymal progenitors exerts pro-osteogenic and anti-inflammatory effects during mandibular alveolar bone formation and repair.
    8. Control of osteocyte dendrite formation by Sp7 and its target gene osteocrin.
      Title: Control of osteocyte dendrite formation by Sp7 and its target gene osteocrin.
    9. Juvenile Paget's Disease From Heterozygous Mutation of SP7 Encoding Osterix (Specificity Protein 7, Transcription Factor SP7).
      Title: Juvenile Paget's Disease From Heterozygous Mutation of SP7 Encoding Osterix (Specificity Protein 7, Transcription Factor SP7).
    10. Mg(2+) in beta-TCP/Mg-Zn composite enhances the differentiation of human bone marrow stromal cells into osteoblasts through MAPK-regulated Runx2/Osx.
      Title: Mg(2+) in β-TCP/Mg-Zn composite enhances the differentiation of human bone marrow stromal cells into osteoblasts through MAPK-regulated Runx2/Osx.
    Submit: New GeneRIF Correction See all GeneRIFs (75)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Osteogenesis imperfecta type 12
    MedGen: C3151433 OMIM: 613849 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
    EBI GWAS Catalog
    New sequence variants associated with bone mineral density.
    EBI GWAS Catalog
    Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC126598

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DEAD/H-box RNA helicase binding ISS
    Inferred from Sequence or Structural Similarity
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in diphosphate metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in gene expression IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in hematopoietic stem cell differentiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in osteoblast differentiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in osteoblast differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in positive regulation of stem cell differentiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    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
    part_of chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    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.

    Genomic

    1. NG_023391.2 RefSeqGene

      Range
      13440..23219
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001173467.3 → NP_001166938.1  transcription factor Sp7 isoform a

      See identical proteins and their annotated locations for NP_001166938.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a). Variants 1 and 2 encode the same isoform.
      Source sequence(s)
      AF477981, AK128520
      Consensus CDS
      CCDS44897.1
      UniProtKB/Swiss-Prot
      B3KY26, Q3MJ72, Q7Z718, Q8TDD2
      Related
      ENSP00000443827.2, ENST00000536324.4
      Conserved Domains (3) summary
      PHA03247
      Location:14 → 249
      PHA03247; large tegument protein UL36; Provisional
      sd00017
      Location:299 → 318
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:340 → 365
      zf-H2C2_2; Zinc-finger double domain

    2. NM_001300837.2 → NP_001287766.1  transcription factor Sp7 isoform b

      See identical proteins and their annotated locations for NP_001287766.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' structure, resulting in the use of a downstream start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus compared to isoform a.
      Source sequence(s)
      AC073611, AF477981, AY150674, HY020346
      Consensus CDS
      CCDS73475.1
      Related
      ENSP00000441367.2, ENST00000537210.2
      Conserved Domains (3) summary
      PHA03247
      Location:3 → 231
      PHA03247; large tegument protein UL36; Provisional
      sd00017
      Location:281 → 300
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:322 → 347
      zf-H2C2_2; Zinc-finger double domain

    3. NM_152860.2 → NP_690599.1  transcription factor Sp7 isoform a

      See identical proteins and their annotated locations for NP_690599.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      AC073611, AF477981
      Consensus CDS
      CCDS44897.1
      UniProtKB/Swiss-Prot
      B3KY26, Q3MJ72, Q7Z718, Q8TDD2
      Related
      ENSP00000302812.3, ENST00000303846.3
      Conserved Domains (3) summary
      PHA03247
      Location:14 → 249
      PHA03247; large tegument protein UL36; Provisional
      sd00017
      Location:299 → 318
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:340 → 365
      zf-H2C2_2; Zinc-finger double domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      53326575..53344793 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791795.1 Reference GRCh38.p14 PATCHES

      Range
      50325..68543 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333139.1 → XP_054189114.1  transcription factor Sp7 isoform X1

      UniProtKB/Swiss-Prot
      B3KY26, Q3MJ72, Q7Z718, Q8TDD2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      53292290..53310533 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371078.1 → XP_054227053.1  transcription factor Sp7 isoform X1

      UniProtKB/Swiss-Prot
      B3KY26, Q3MJ72, Q7Z718, Q8TDD2
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TDD2.1 GenPept UniProtKB/Swiss-Prot:Q8TDD2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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