STING1

Chr 5AD

stimulator of interferon response cGAMP interactor 1

Also known as: ERIS, MITA, MPYS, NET23, SAVI, STING, STING-beta, TMEM173

NCBI Gene: 340061ENSG00000184584UniProt: Q86WV6

This gene encodes a five transmembrane protein that functions as a major regulator of the innate immune response to viral and bacterial infections. The encoded protein is a pattern recognition receptor that detects cytosolic nucleic acids and transmits signals that activate type I interferon responses. The encoded protein has also been shown to play a role in apoptotic signaling by associating with type II major histocompatibility complex. Mutations in this gene are the cause of infantile-onset STING-associated vasculopathy. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]

Primary Disease Associations & Inheritance

STING-associated vasculopathy, infantile-onsetMIM #615934
AD
419
ClinVar variants
24
Pathogenic / LP
0.00
pLI score
4
Active trials
Clinical Summary— STING1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
24 Pathogenic / Likely Pathogenic· 228 VUS of 419 total submissions
💊
Clinical Trials
4 active or recruiting trials — potential therapeutic options may be available

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
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.
0.90LOEUF
pLI 0.001
Z-score 1.83
OE 0.48 (0.27–0.90)
Tolerant

Typical tolerance to LoF variation

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.
1.64Z-score
OE missense 0.70 (0.61–0.79)
160 obs / 230.1 exp
Tolerant

Mild missense constraint

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.0.48 (0.27–0.90)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.70 (0.61–0.79)
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.1.00
0≤1.21.6
LoF obs/exp: 7 / 14.6Missense obs/exp: 160 / 230.1Syn Z: 0.00

ClinVar Variant Classifications

419 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic18
Likely Pathogenic6
VUS228
Likely Benign127
Benign16
Conflicting24
18
Pathogenic
6
Likely Pathogenic
228
VUS
127
Likely Benign
16
Benign
24
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
5
13
0
18
Likely Pathogenic
0
5
1
0
6
VUS
16
169
37
6
228
Likely Benign
1
15
42
69
127
Benign
0
2
9
5
16
Conflicting
—24
Total1719610280419

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

STING1 · 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

STING-associated vasculopathy, infantile-onset

MIM #615934

Molecular basis of disorder known

Autosomal dominant
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Lipotoxicity-induced STING1 activation stimulates MTORC1 and restricts hepatic lipophagy.
Liu K et al.·Autophagy
2022
Increased LCN2 (lipocalin 2) in the RPE decreases autophagy and activates inflammasome-ferroptosis processes in a mouse model of dry AMD.
Gupta U et al.·Autophagy
2023Functional
Epigenetic Induction of Smooth Muscle Cell Phenotypic Alterations in Aortic Aneurysms and Dissections.
Chakraborty A et al.·Circulation
2023
Overview of STING-Associated Vasculopathy with Onset in Infancy (SAVI) Among 21 Patients.
Frémond ML et al.·J Allergy Clin Immunol Pract
2021Review
STING induces ZBP1-mediated necroptosis independently of TNFR1 and FADD.
Kelepouras K et al.·Nature
2025
Huangkui capsule attenuates diabetic kidney disease through the induction of mitophagy mediated by STING1/PINK1 signaling in tubular cells.
Zhu Z et al.·Phytomedicine
2023
Dysfunctional autophagy triggers STING1 activation to exacerbate cartilage degeneration in obesity-associated osteoarthritis.
Kang X et al.·Autophagy
2025Functional
STING1 in sepsis: Mechanisms, functions, and implications.
Zhang RX et al.·Chin J Traumatol
2022Review
Self-DNA by Activating the CGAS-STING1 Pathway Contributes to the Pathogenesis of Atherosclerosis.
Marian AJ·Curr Atheroscler Rep
2025Review
KDM4A-induced tumor senescence enhances the efficacy of immunotherapy by inhibiting AGT-PHB1 axis-mediated mitophagy in colorectal cancer.
Cai T et al.·Autophagy
2025
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
Metastatic Colorectal AdenocarcinomaRefractory Colorectal AdenocarcinomaStage III Colorectal Cancer AJCC v8

Testing the Effectiveness of the Anti-cancer Drug Pidnarulex (CX-5461) in Combination With Another Anti-cancer Drug Cemiplimab (REGN2810), in Treating Refractory Microsatellite Stable Colorectal Cancer

NOT YET RECRUITING
NCT07147231Phase PHASE1, PHASE2National Cancer Institute (NCI)Started 2026-03-31
Biopsy ProcedureBiospecimen CollectionCemiplimab
Triple Negative Breast CancerDiffuse Large B Cell LymphomaFollicular Lymphoma

A Dose Escalation and Dose Expansion Study of Intratumoral ONM-501 Alone and in Combination With Cemiplimab in Patients With Advanced Solid Tumors and Lymphomas.

RECRUITING
NCT06022029Phase PHASE1OncoNano Medicine, Inc.Started 2023-10-13
ONM-501Cemiplimab
Neoplasms

A First Time in Human (FTIH) Study of GSK3745417 Administered to Participants With Advanced Solid Tumors

ACTIVE NOT RECRUITING
NCT03843359Phase PHASE1GlaxoSmithKlineStarted 2019-03-12
GSK3745417Dostarlimab
Acute Myeloid Leukemia

2321GCCC: CRD3874-SI in Patients With Relapsed/Refractory AML

ACTIVE NOT RECRUITING
NCT06626633Phase PHASE1University of Maryland, BaltimoreStarted 2024-08-26
CRD3874

External Resources

Links to major genomics databases and tools