GTSE1

Chr 22

G2 and S-phase expressed 1

Also known as: B99

NCBI Gene: 51512ENSG00000075218UniProt: Q9NYZ3

The protein encoded by this gene is only expressed in the S and G2 phases of the cell cycle, where it colocalizes with cytoplasmic tubulin and microtubules. In response to DNA damage, the encoded protein accumulates in the nucleus and binds the tumor suppressor protein p53, shuttling it out of the nucleus and repressing its ability to induce apoptosis. [provided by RefSeq, Jul 2008]

255
ClinVar variants
82
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— GTSE1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
82 Pathogenic / Likely Pathogenic· 129 VUS of 255 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.
0.74LOEUF
pLI 0.000
Z-score 2.59
OE 0.46 (0.29–0.74)
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.
0.06Z-score
OE missense 0.99 (0.92–1.07)
444 obs / 447.5 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.0.46 (0.29–0.74)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.99 (0.92–1.07)
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.1.06
0≤1.21.6
LoF obs/exp: 12 / 26.3Missense obs/exp: 444 / 447.5Syn Z: -0.62

ClinVar Variant Classifications

255 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic80
Likely Pathogenic2
VUS129
Likely Benign25
Benign10
80
Pathogenic
2
Likely Pathogenic
129
VUS
25
Likely Benign
10
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
80
0
80
Likely Pathogenic
0
0
2
0
2
VUS
0
120
9
0
129
Likely Benign
0
22
0
3
25
Benign
0
6
2
2
10
Total0148935246

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

View in ClinVar →

Protein Context — Lollipop Plot

GTSE1 · 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
GTSE1-driven ZEB1 stabilization promotes pulmonary fibrosis through the epithelial-to-mesenchymal transition.
Jin H et al.·Mol Ther
2024
Pan-cancer analyses reveal GTSE1 as a biomarker for the immunosuppressive tumor microenvironment.
Tan K et al.·Medicine (Baltimore)
2023
GTSE1 promotes the growth of NSCLC by regulating microtubule-associated proteins through the ERK/MAPK pathway.
Wang C et al.·Thorac Cancer
2023
GTSE1: A potential prognostic and diagnostic biomarker in various tumors including lung adenocarcinoma.
Yan G et al.·Clin Respir J
2024
The Overexpression of NUSAP1 and GTSE1 Could Predict An Unfavourable Prognosis and Shorter Disease Free Survival in ccRenal Cell Carcinoma.
El-Hussieny M et al.·Asian Pac J Cancer Prev
2024
GTSE1 promotes tumor growth and metastasis by attenuating of KLF4 expression in clear cell renal cell carcinoma.
Chen W et al.·Lab Invest
2022
GTSE1 Facilitates the Malignant Phenotype of Lung Cancer Cells via Activating AKT/mTOR Signaling.
Zhang F et al.·Anal Cell Pathol (Amst)
2021
A comprehensive review and in silico analysis of the role of survivin (BIRC5) in hepatocellular carcinoma hallmarks: A step toward precision.
Mohamed NM et al.·Int J Biol Macromol
2025Review
GTSE1 expression represses apoptotic signaling and confers cisplatin resistance in gastric cancer cells.
Subhash VV et al.·BMC Cancer
2015
G2 and S phase-expressed protein 1 is a biomarker for poor prognosis in lung adenocarcinoma.
Yang X et al.·Medicine (Baltimore)
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