FLOT2

Chr 17

flotillin 2

Also known as: ECS-1, ECS1, ESA, ESA1, M17S1

NCBI Gene: 2319UniProt: Q14254

Caveolae are small domains on the inner cell membrane involved in vesicular trafficking and signal transduction. This gene encodes a caveolae-associated, integral membrane protein, which is thought to function in neuronal signaling. [provided by RefSeq, Jul 2008]

80
ClinVar variants
6
Pathogenic / LP
0.00
pLI score
1.8
Missense Z
0.74
LOEUF
0
Active trials
Clinical Summary— FLOT2
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
6 Pathogenic / Likely Pathogenic· 69 VUS of 80 total submissions
Some data sources returned errors (1)

ensembl: TimeoutError: The operation was aborted due to timeout

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.
0.74LOEUF
pLI 0.000
Z-score 2.53
OE 0.45 (0.28–0.74)
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.
1.76Z-score
OE missense 0.70 (0.62–0.79)
194 obs / 276.3 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.0.45 (0.28–0.74)
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 (0.62–0.79)
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.0.90
0≤1.21.6
LoF obs/exp: 11 / 24.5Missense obs/exp: 194 / 276.3Syn Z: 0.86

ClinVar Variant Classifications

80 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic5
Likely Pathogenic1
VUS69
Likely Benign1
Benign4
5
Pathogenic
1
Likely Pathogenic
69
VUS
1
Likely Benign
4
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
5
0
5
Likely Pathogenic
0
0
1
0
1
VUS
0
64
5
0
69
Likely Benign
0
0
0
1
1
Benign
0
2
1
1
4
Total06612280

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

View in ClinVar →

Protein Context — Lollipop Plot

FLOT2 · 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
FLOTILLIN 2; FLOT2
MIM #131560 · *
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Osteoclast precursor cell-derived Flot2 is a novel therapeutic target for bone loss diseases.
Zou B et al.·Pharmacol Res
2025
HNRNPH1 stabilizes FLOT2 mRNA in a non-canonical m6A-dependent manner to promote malignant progression in nasopharyngeal carcinoma.
Li Q et al.·Cell Oncol (Dordr)
2024
FLOT2 upregulation promotes growth and invasion by interacting and stabilizing EphA2 in gliomas.
Song T et al.·Biochem Biophys Res Commun
2021
XIAOPI formula inhibits chemoresistance and metastasis of triple-negative breast cancer by suppressing extracellular vesicle/CXCL1-induced TAM/PD-L1 signaling.
Wang S et al.·Phytomedicine
2024
Analysis and Investigation of Bioinformatics and Epigenetics Reveal the Underlying Mechanisms by which FLOT2 Modulates the Progression of Diffuse Large B-cell Lymphoma.
Zhang Y et al.·Discov Med
2024Functional
Identification of novel diagnostic panel for mild cognitive impairment and Alzheimer's disease: findings based on urine proteomics and machine learning.
Wang Y et al.·Alzheimers Res Ther
2023
Flot2 targeted by miR-449 acts as a prognostic biomarker in glioma.
Huang S et al.·Artif Cells Nanomed Biotechnol
2019
Effect of FLOT2 Gene Expression on Invasion and Metastasis of Colorectal Cancer and Its Molecular Mechanism under Nanotechnology and RNA Interference.
Zhong C et al.·Biomed Res Int
2022Functional
Up-regulation of flotillin-2 is associated with renal cell carcinoma progression.
Yan Y et al.·Tumour Biol
2014
SiRNA-mediated flotillin-2 (Flot2) downregulation inhibits cell proliferation, migration, and invasion in gastric carcinoma cells.
Cao K et al.·Oncol Res
2014
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
HDAC6-mediated deacetylation of FLOT2 maintains stability and tumorigenic function of FLOT2 in nasopharyngeal carcinoma.
Luo C et al.·Zhong Nan Da Xue Xue Bao Yi Xue Ban
2024
Loss of Flot2 expression in deep cerebellar nuclei neurons of mice with Niemann-Pick disease type C
Chen TI et al.·Heliyon
2023
Flot2 acts as a novel mediator of podocyte injury in proteinuric kidney disease
Yu C et al.·Int J Biol Sci
2023
Baohuoside I chemosensitises breast cancer to paclitaxel by suppressing extracellular vesicle/CXCL1 signal released from apoptotic cells
Wang S et al.·J Extracell Vesicles
2024
Flot2 deficiency facilitates B cell-mediated inflammatory responses and endotoxic shock.
Yang Q et al.·Immunology
2023
Enhanced therapeutic potential of Flotillins-modified MenSCs by improve the survival, proliferation and migration.
Cheng F et al.·Mol Biol Rep
2024
Top 6 full-text resultsSearch PubTator3 ↗

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