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Gene

SP7

Sp7 transcription factor

Summary

Cytogenetic location
12q13.13
Coordinates
Chromosome 12: 53,326,575–53,336,354 (GRCh38)
Exons
3 exons across 9.8 kb
Protein
431 amino acids
Also known as
osterix, OSX
MANE Select transcript
ENST00000536324.4NM_001173467.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Osteogenesis Imperfecta

    • A group of inherited connective tissue disorders causing fragile bones that break easily, often with blue sclerae, hearing loss and dental problems.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Cyclic IV bisphosphonates (pamidronate, zoledronate); orthopedic rodding of long bones; physical therapy; denosumab (in clinical use for pediatric OI); romosozumab (in development); hearing monitoring; dental management for dentinogenesis imperfecta

How SP7 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 12, with a bracket where SP7 sits. SP7 and 30 genes near it on chromosome 12, from 52,831,465 to 53,831,464.Chromosome 1212q13.13p13.33p13.32p13.31p13.2p13.1p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11q12q13.11q13.12q13.13q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.31q24.32q24.3353 Mb53.2 Mb53.4 Mb53.6 Mb53.8 MbKRT79: 52,821,408–52,834,312, reverse strandKRT79KRT78: 52,837,804–52,849,092, reverse strandKRT78KRT8: 52,897,182–52,949,954, reverse strandKRT8KRT18: 52,945,688–52,952,911, forward strandKRT18EIF4B: 53,006,263–53,042,230, forward strandEIF4BTNS2: 53,046,969–53,064,621, forward strandTNS2SPRYD3: 53,064,316–53,079,414, reverse strandSPRYD3IGFBP6: 53,097,436–53,102,345, forward strandIGFBP6SOAT2: 53,103,457–53,124,538, forward strandSOAT2CSAD: 53,157,663–53,180,933, reverse strandCSADZNF740: 53,180,555–53,195,142, forward strandZNF740ITGB7: 53,191,318–53,207,310, reverse strandITGB7RARG: 53,210,566–53,232,980, reverse strandRARG: 53,241,900–53,242,722, forward strandSLC61A1: 53,251,251–53,254,406, forward strandSLC61A1ESPL1: 53,268,248–53,293,643, forward strandESPL1PFDN5: 53,295,291–53,299,455, forward strandPFDN5MYG1: 53,299,695–53,307,181, forward strandMYG1AAAS: 53,307,456–53,324,864, reverse strandAAASSP7: 53,326,575–53,336,354, reverse strandSP7SP1: 53,380,135–53,416,446, forward strandSP1AMHR2: 53,423,672–53,431,672, forward strandAMHR2PRR13: 53,441,308–53,446,660, forward strandPRR13PCBP2: 53,451,900–53,484,618, forward strandPCBP2MAP3K12: 53,479,669–53,500,063, reverse strandMAP3K12TARBP2: 53,500,921–53,506,431, forward strandTARBP2NPFF: 53,506,684–53,507,491, reverse strandNPFFATF7-NPFF: 53,506,691–53,625,979, reverse strandATF7-NPFFATF7: 53,507,856–53,626,412, reverse strandATP5MC2: 53,626,515–53,678,658, reverse strandATP5MC2CALCOCO1: 53,708,517–53,727,745, reverse strandCALCOCO1Diagram of SP7: 3 exons on the reverse strand of chromosome 12Exon 3: 1 known disease-causing siteExon 3: 53,326,575–53,329,420, 2,846 basesExon 2: 53,335,626–53,335,693, 68 basesExon 1: 53,336,146–53,336,354, 209 bases3215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 3.1 kb of the gene's 9.8 kb; 1,296 of those bases code for the protein.

How a genome test reads SP7

1

position in SP7 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 9.8 kb of SP7, introns included, not only the 3.1 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). SP7 gene: Sp7 transcription factor. Retrieved 16 October 2026, from https://dantelabs.com/genes/sp7

Vancouver

Dante Labs. SP7 gene: Sp7 transcription factor [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/sp7

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