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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
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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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