SP2

Chr 17

Sp2 transcription factor

NCBI Gene: 6668UniProt: Q02086

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 contains the least conserved DNA-binding domain within the Sp subfamily of proteins, and its DNA sequence specificity differs from the other Sp proteins. It localizes primarily within subnuclear foci associated with the nuclear matrix, and can activate or in some cases repress expression from different promoters. [provided by RefSeq, Jul 2008]

1
Active trials
0
ClinVar variants
0
Pathogenic / LP
2.4
Missense Z
0.22
LOEUF· LoF intolerant
12
Pubs (2 yr)
Clinical Summary— SP2
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
💊
Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available
Some data sources returned errors (1)

ensembl: Error: Ensembl fetch failed: 500 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/SP2?content-type=application/json&expand=1

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.22LOEUF
pLI 0.997
Z-score 4.12
OE 0.05 (0.01–0.22)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
2.37Z-score
OE missense 0.66 (0.59–0.73)
247 obs / 376.3 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.05 (0.01–0.22)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.66 (0.59–0.73)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.07
0≤1.21.6
LoF obs/exp: 1 / 21.7Missense obs/exp: 247 / 376.3Syn Z: -0.72

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SP2 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Molecular Phenotyping of Sepsis and Differential Response to Fluid Resuscitation.
Kiernan E et al.·Am J Respir Crit Care Med
2025
Urinary proteomics identifies distinct immunological profiles of sepsis associated AKI sub-phenotypes.
Stanaway IB et al.·Crit Care
2024
Carbon Nanotubes in Biomedicine.
Negri V et al.·Top Curr Chem (Cham)
2020Review
Specificity Proteins (Sp) and Cancer.
Safe S·Int J Mol Sci
2023Review
Machine learning derivation of two cardiac arrest subphenotypes with distinct responses to treatment.
Zhang W et al.·J Transl Med
2025
Brainstem reflex circuits revisited.
Cruccu G et al.·Brain
2005
Mechanisms underlying delayed loss of HBeAg and HBV DNA following HBsAg seroclearance in PEG-IFNα treated patients of chronic hepatitis B.
Jiang B et al.·Emerg Microbes Infect
2025Cohort
Pirfenidone: an update on clinical trial data and insights from everyday practice.
Kreuter M·Eur Respir Rev
2014Review
Progress and Prospects of Graphdiyne-Based Materials in Biomedical Applications.
Liu J et al.·Adv Mater
2019Review
Carbon Nanomaterials for Drug Delivery and Cancer Therapy.
Chakrabarti M et al.·J Nanosci Nanotechnol
2015Review
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Pyramidalization of sp2 Centers.
Brunner H et al.·J Org Chem
2025
Superfast Formation of C(sp2 )-N, C(sp2 )-P, and C(sp2 )-S Vinylic Bonds in Water Microdroplets.
Meng Y et al.·Angew Chem Int Ed Engl
2023
Controlled Synthesis of Oligomers Containing Main-Chain B(sp2)-B(sp2) Bonds
Schorr F et al.·Chemistry
2021
Cascade of C(sp2)-H Addition to Carbonyl and C(sp2)-CN/C(sp2)-H Coupling Enabled by Bronsted Acid: Construction of Benzo[a]carbazole Frameworks.
Tang L et al.·Org Lett
2022
Unsymmetrical sp2 -sp3 Disilenes.
Bisai MK et al.·Angew Chem Int Ed Engl
2021
C(acyl)-C(sp2) and C(sp2)-C(sp2) Suzuki-Miyaura cross-coupling reactions using nitrile-functionalized NHC palladium complexes
Çakır S et al.·RSC Adv
2021Functional
Recent advances in iron-catalysed coupling reactions for the construction of the C(sp2)-C(sp2) bond.
Chen P et al.·Org Biomol Chem
2023
Catalytic C(sp2) homologation of alkylboranes.
Gardner BW et al.·Nat Chem
2025
Stereospecific Iron-Catalyzed Carbon (sp2)-Carbon (sp2) Cross-Coupling of Aryllithium with Vinyl Halides.
Chen P et al.·Org Lett
2021
Pd-Catalyzed C(sp2)-H/C(sp2)-H Coupling of Limonene
Di Matteo M et al.·J Org Chem
2024
Top 10 full-text resultsSearch PubTator3 ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
Neurodevelopmental DisordersAutism Spectrum Disorder

Early Recognition and Intervention in Siblings at High-risk for Neurodevelopmental Disorder

RECRUITING
NCT06512649Phase NAFondazione Don Carlo Gnocchi OnlusStarted 2023-05-31
Early interventionActive monitoring

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