STOML2

Chr 9

stomatin like 2

Also known as: HSPC108, SLP-2

NCBI Gene: 30968ENSG00000165283UniProt: Q9UJZ1

Enables GTPase binding activity; T cell receptor binding activity; and cardiolipin binding activity. Involved in intracellular calcium ion homeostasis; mitochondrion organization; and protein complex oligomerization. Acts upstream of or within T cell receptor signaling pathway. Located in several cellular components, including immunological synapse; membrane raft; and mitochondrial envelope. [provided by Alliance of Genome Resources, Jul 2025]

130
ClinVar variants
41
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— STOML2
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
41 Pathogenic / Likely Pathogenic· 41 VUS of 130 total submissions

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.
0.70LOEUF
pLI 0.002
Z-score 2.59
OE 0.39 (0.23–0.70)
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.
1.55Z-score
OE missense 0.70 (0.61–0.80)
148 obs / 211.2 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.0.39 (0.23–0.70)
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 (0.61–0.80)
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: 8 / 20.7Missense obs/exp: 148 / 211.2Syn Z: -0.48

ClinVar Variant Classifications

130 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic34
Likely Pathogenic7
VUS41
34
Pathogenic
7
Likely Pathogenic
41
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
34
0
34
Likely Pathogenic
0
0
7
0
7
VUS
0
34
7
0
41
Likely Benign
0
0
0
0
0
Benign
0
0
0
0
0
Total03448082

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

View in ClinVar →

Protein Context — Lollipop Plot

STOML2 · 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
CLPB disaggregase dysfunction impacts the functional integrity of the proteolytic SPY complex.
Baker MJ et al.·J Cell Biol
2024Functional
Stomatin-like protein 2 promotes cell proliferation and survival under 5-Fluorouracil stress in hepatocellular carcinoma.
Li X et al.·Mol Biol Rep
2024
STOML2 interacts with PHB through activating MAPK signaling pathway to promote colorectal Cancer proliferation.
Ma W et al.·J Exp Clin Cancer Res
2021
Resveratrol augments paclitaxel sensitivity by modulating miR-671-5p/STOML2/PINK1/Parkin-mediated autophagy signaling in A549 cell.
Kong F et al.·J Biochem Mol Toxicol
2024
Increased expression of stomatin-like protein 2 (STOML2) predicts decreased survival in gastric adenocarcinoma: a retrospective study.
Li XH et al.·Med Oncol
2014
Stomatin-like protein 2 expression is associated with clinical survival in patients with cervical cancer.
Xiao B et al.·Int J Clin Exp Pathol
2015Cohort
Knockdown of stomatin-like protein 2 (STOML2) reduces the invasive ability of glioma cells through inhibition of the NF-κB/MMP-9 pathway.
Song L et al.·J Pathol
2012
Multi-omics identification of circulating protein biomarkers for intervertebral disc degeneration using Mendelian randomization and scRNA-seq.
Bai F et al.·Clin Rheumatol
2025
Identification of novel biomarker and therapeutic target candidates for diagnosis and treatment of follicular carcinoma.
Lai X et al.·J Proteomics
2017
Biological indicators of prognosis in Ewing's sarcoma: an emerging role for lectin galactoside-binding soluble 3 binding protein (LGALS3BP).
Zambelli D et al.·Int J Cancer
2010
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Novel mechanism of neuronal hypoxia response: HIF-1α/STOML2 mediated PINK1-dependent mitophagy activation against neuronal injury.
Li Y et al.·Cell Death Discov
2026🔓 Open AccessFunctional
STOML2 Maintains Pluripotency and Cell Cycle Integrity in Human Pluripotent Stem Cells via PHB-ERK Signaling.
Song Y et al.·Int J Stem Cells
2026
STOML2 promotes hepatocellular carcinoma cell proliferation, invasion and migration by activating the PI3K/AKT signaling pathway (Review).
Li M et al.·Oncol Lett
2026🔓 Open AccessReview
STOML2 is not essential for spermatogenesis and male fertility in mice.
Yang F et al.·Biochem Biophys Res Commun
2026
STOML2 interacts with PHB to activate the MEK/ERK signaling pathway and mediates autophagy‑related proteins in the progression of hepatocellular carcinoma.
Hu H et al.·Int J Mol Med
2026🔓 Open Access
Top 5 resultsSearch Europe PMC ↗

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