STOML2

Chr 9

stomatin like 2

Also known as: HSPC108, SLP-2

NCBI Gene: 30968ENSG00000165283UniProt: Q9UJZ1OMIM: 608292

The STOML2 protein regulates mitochondrial biogenesis and organization, stimulates cardiolipin biosynthesis, and plays roles in calcium homeostasis, T-cell activation, and cellular stress responses. Mutations cause autosomal recessive mitochondrial disorders affecting multiple systems including immune function and cellular energy metabolism. This gene is moderately constrained against loss-of-function variants, suggesting that complete loss of protein function is not well tolerated.

OMIMResearchSummary from RefSeq, UniProt
DNmechanismLOEUF 0.70
Clinical Summary— STOML2
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
72 unique Pathogenic / Likely Pathogenic· 41 VUS of 131 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.70LOEUF
pLI 0.002
Z-score 2.59
OE 0.39 (0.23–0.70)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
1.55Z-score
OE missense 0.70 (0.61–0.80)
148 obs / 211.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.39 (0.23–0.70)
0≤0.351.4
Missense OE0.70 (0.61–0.80)
0≤0.61.4
Synonymous OE1.07
0≤1.21.6
LoF obs/exp: 8 / 20.7Missense obs/exp: 148 / 211.2Syn Z: -0.48
DN
0.81top 10%
GOF
0.6346th %ile
LOF
0.2970th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

131 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic64
Likely Pathogenic8
VUS41
64
Pathogenic
8
Likely Pathogenic
41
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
64
0
64
Likely Pathogenic
0
0
8
0
8
VUS
0
34
7
0
41
Likely Benign
0
0
0
0
0
Benign
0
0
0
0
0
Total034790113

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.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Expression of STOML2 promotes proliferation and glycolysis of multiple myeloma cells via upregulating PAI-1
Zhang H et al.·J Orthop Surg Res
2021
STOML2 interacts with PHB through activating MAPK signaling pathway to promote colorectal Cancer proliferation
Ma W et al.·J Exp Clin Cancer Res
2021
STOML2 potentiates metastasis of hepatocellular carcinoma by promoting PINK1-mediated mitophagy and regulates sensitivity to lenvatinib
Zheng Y et al.·J Hematol Oncol
2021
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
STOML2 Knockdown Inhibits Inflammation and Airway Remodeling of PDGF-BB-Induced Airway Smooth-Muscle Cells by the MAPK Pathway.
Li Z et al.·J Asthma
2025Functional
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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