SP7

Chr 12AR

Sp7 transcription factor

Also known as: OI11, OI12, OSX, osterix

NCBI Gene: 121340ENSG00000170374UniProt: Q8TDD2OMIM: 606633

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]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Osteogenesis imperfecta, type XIIMIM #613849
AR

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
128
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.56
LOEUF
LOF
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.56LOEUF
pLI 0.583
Z-score 2.56
OE 0.18 (0.07–0.56)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
0.50Z-score
OE missense 0.91 (0.82–1.02)
231 obs / 253.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.18 (0.07–0.56)
0≤0.351.4
Missense OE?0.91 (0.82–1.02)
0≤0.61.4
Synonymous OE?0.96
0≤1.21.6
LoF obs/exp: 2 / 11.3Missense obs/exp: 231 / 253.4Syn Z: 0.35

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SP7 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients