SOX2-OT

Chr 3

SOX2 overlapping transcript

Also known as: NCRNA00043, SOX2OT

NCBI Gene: 347689ENSG00000242808

This gene produces alternatively spliced long non-coding RNAs. These RNAs were observed to be upregulated in tumor cells and positively correlated to expression of the SRY-box 2 gene. Overexpression of these transcripts may promote cell proliferation. [provided by RefSeq, Dec 2017]

317
ClinVar variants
144
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— SOX2-OT
📋
ClinVar Variants
144 Pathogenic / Likely Pathogenic· 102 VUS of 317 total submissions
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

317 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic116
Likely Pathogenic28
VUS102
Likely Benign42
Benign19
Conflicting10
116
Pathogenic
28
Likely Pathogenic
102
VUS
42
Likely Benign
19
Benign
10
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
42
10
64
0
116
Likely Pathogenic
9
9
10
0
28
VUS
0
84
6
12
102
Likely Benign
0
8
3
31
42
Benign
0
5
8
6
19
Conflicting
—10
Total511169149317

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

View in ClinVar →

Protein Context — Lollipop Plot

SOX2-OT · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Long Noncoding RNA SOX2-OT: Regulations, Functions, and Roles on Mental Illnesses, Cancers, and Diabetic Complications.
Li PY et al.·Biomed Res Int
2020Review
Diagnostic and prognostic significance of lncRNA SOX2-OT in patients with carotid atherosclerosis.
Tao J et al.·BMC Cardiovasc Disord
2022Cohort
The emerging role of long non-coding RNA SOX2-OT in cancers and non-malignant diseases.
Yang J et al.·J Physiol Biochem
2025Review
[SOX2-OT/SOX2 axis regulates lung cancer H520 cell migration via Gli1-mediated epithelial-mesenchymal transition].
Dong H et al.·Nan Fang Yi Ke Da Xue Xue Bao
2022
The emerging role of lncRNAs in the regulation of osteosarcoma stem cells.
Song XJ et al.·Eur Rev Med Pharmacol Sci
2022Review
LncRNA SOX2-OT regulates proliferation and metastasis of nasopharyngeal carcinoma cells through miR-146b-5p/HNRNPA2B1 pathway.
Zhang E et al.·J Cell Biochem
2019
LncRNA SOX2-OT regulates AKT/ERK and SOX2/GLI-1 expression, hinders therapy, and worsens clinical prognosis in malignant lung diseases.
Herrera-Solorio AM et al.·Mol Oncol
2021
Clinical value of lncRNA SOX2-OT in pulmonary arterial hypertension and its role in pulmonary artery smooth muscle cell proliferation, migration, apoptosis, and inflammatory.
Jiang Y et al.·Heart Lung
2022
Genetic correlates of insight in schizophrenia.
Xavier RM et al.·Schizophr Res
2018
The impact of LncRNA-SOX2-OT/let-7c-3p/SKP2 Axis on head and neck squamous cell carcinoma progression: Insights from bioinformatics analysis and experimental validation.
Wang D et al.·Cell Signal
2024
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

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools