SP1

Chr 12

Sp1 transcription factor

NCBI Gene: 6667ENSG00000185591UniProt: Q8N907OMIM: 189906

The protein encoded by this gene is a zinc finger transcription factor that binds to GC-rich motifs of many promoters. The encoded protein is involved in many cellular processes, including cell differentiation, cell growth, apoptosis, immune responses, response to DNA damage, and chromatin remodeling. Post-translational modifications such as phosphorylation, acetylation, glycosylation, and proteolytic processing significantly affect the activity of this protein, which can be an activator or a repressor. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtHeterotaxy, visceral, 13, autosomal

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
611
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.10
LOEUF· LoF intol.
LOF
Mechanism· predicted
📖
GeneReview available — SP1
Authoritative clinical overview · Recommended first read
Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.10LOEUF
pLI 1.000
Z-score 5.06
OE 0.00 (0.00–0.10)
Highly constrained

Among the most LoF-intolerant genes (~top 3%)

Missense Constraint?
1.14Z-score
OE missense 0.84 (0.77–0.92)
359 obs / 424.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.00 (0.00–0.10)
0≤0.351.4
Missense OE?0.84 (0.77–0.92)
0≤0.61.4
Synonymous OE?1.15
0≤1.21.6
LoF obs/exp: 0 / 29.9Missense obs/exp: 359 / 424.9Syn Z: -1.53

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SP1 · 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