TACSTD2

Chr 1

tumor associated calcium signal transducer 2

Also known as: EGP-1, EGP1, GA733-1, GA7331, GP50, M1S1, TROP2

NCBI Gene: 4070ENSG00000184292UniProt: P09758

This intronless gene encodes a carcinoma-associated antigen. This antigen is a cell surface receptor that transduces calcium signals. Mutations of this gene have been associated with gelatinous drop-like corneal dystrophy.[provided by RefSeq, Dec 2009]

Primary Disease Associations & Inheritance

UniProtCorneal dystrophy, gelatinous drop-like
100
ClinVar variants
8
Pathogenic / LP
0.00
pLI score
12
Active trials
Clinical Summary— TACSTD2
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
8 Pathogenic / Likely Pathogenic· 77 VUS of 100 total submissions
💊
Clinical Trials
12 active or recruiting trials — potential therapeutic options may be available
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

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.
1.53LOEUF
pLI 0.005
Z-score 0.69
OE 0.69 (0.34–1.53)
Tolerant

Highly tolerant — LoF variants common in population

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.
0.56Z-score
OE missense 0.89 (0.79–1.01)
187 obs / 209.9 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.0.69 (0.34–1.53)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.89 (0.79–1.01)
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.0.75
0≤1.21.6
LoF obs/exp: 4 / 5.8Missense obs/exp: 187 / 209.9Syn Z: 1.99

ClinVar Variant Classifications

100 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic6
Likely Pathogenic2
VUS77
Likely Benign6
Benign5
Conflicting4
6
Pathogenic
2
Likely Pathogenic
77
VUS
6
Likely Benign
5
Benign
4
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
1
0
5
0
6
Likely Pathogenic
0
1
1
0
2
VUS
0
57
17
3
77
Likely Benign
0
1
1
4
6
Benign
0
2
3
0
5
Conflicting
—4
Total161277100

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

View in ClinVar →

Protein Context — Lollipop Plot

TACSTD2 · 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
Genomic, immunologic, and prognostic associations of TROP2 (TACSTD2) expression in solid tumors.
Morgenstern-Kaplan D et al.·Oncologist
2024
Parallel Genomic Alterations of Antigen and Payload Targets Mediate Polyclonal Acquired Clinical Resistance to Sacituzumab Govitecan in Triple-Negative Breast Cancer.
Coates JT et al.·Cancer Discov
2021
Corneal dystrophies.
Klintworth GK·Orphanet J Rare Dis
2009Review
Single-cell transcriptomics reveal metastatic CLDN4+ cancer cells underlying the recurrence of malignant pleural effusion in patients with advanced non-small-cell lung cancer.
Zhang X et al.·Clin Transl Med
2024Cohort
Identification and Characterization of Metastasis-Initiating Cells in ESCC in a Multi-Timepoint Pulmonary Metastasis Mouse Model.
Wong CN et al.·Adv Sci (Weinh)
2024Functional
Trop-2 in Upper Tract Urothelial Carcinoma.
Tomiyama E et al.·Curr Oncol
2022
TROP-2, NECTIN-4 and predictive biomarkers in sarcomatoid and rhabdoid bladder urothelial carcinoma.
Brunelli M et al.·Pathologica
2024
Trophoblast Cell Surface Antigen 2 gene (TACSTD2) expression in primary breast cancer.
Vidula N et al.·Breast Cancer Res Treat
2022
A Novel Homozygous Nonsense Mutation in TACSTD2 Gene Causes Gelatinous Drop-like Corneal Dystrophy in a Chinese Consanguineous Family: A Case Report and Literature Review.
Maimaitiming R et al.·Cornea
2025Review
Sacituzumab Govitecan-hziy: An Antibody-Drug Conjugate for the Treatment of Refractory, Metastatic, Triple-Negative Breast Cancer.
Seligson JM et al.·Ann Pharmacother
2021Review
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
Lung DiseasesCarcinoma, Non-Small-Cell LungResectable Lung Non-Small Cell Carcinoma

Study of Treatment With Sacituzumab and Zimberelimab for Patients With Lung Cancer Confined to the Chest and Previously Operated on Who Were Not Disease-free.

RECRUITING
NCT06431633Phase PHASE3Fundación GECPStarted 2025-02-04
ZimberelimabSacituzumab govitecanCisplatin
Recurrent Lung Non-Small Cell CarcinomaStage IV Lung Cancer AJCC v8

Treatment for Advanced Non-small Cell Lung Cancer With Actionable Genomic Alterations After Targeted Treatment and Chemotherapy (An Expanded Lung-MAP Treatment Trial)

NOT YET RECRUITING
NCT07393555Phase PHASE2SWOG Cancer Research NetworkStarted 2026-08-07
Biospecimen CollectionComputed TomographyIvonescimab
Non-small Cell Lung Cancer (NSCLC)

Sacituzumab Tirumotecan (MK-2870) Versus Chemotherapy in Previously Treated Advanced or Metastatic Nonsquamous Non-small Cell Lung Cancer (NSCLC) With EGFR Mutations or Other Genomic Alterations (MK-2870-004)

RECRUITING
NCT06074588Phase PHASE3Merck Sharp & Dohme LLCStarted 2023-11-12
Sacituzumab tirumotecanDocetaxelPemetrexed
Advanced Malignant Solid NeoplasmMetastatic Malignant Solid Neoplasm

Personalized Antibody-Drug Conjugate Therapy Based on RNA and Protein Testing for the Treatment of Advanced or Metastatic Solid Tumors (The ADC MATCH Screening and Treatment Trial)

RECRUITING
NCT06311214Phase PHASE2National Cancer Institute (NCI)Started 2025-03-18
Biopsy ProcedureBiospecimen CollectionComputed Tomography
Differentiated Thyroid CancerAnaplastic Thyroid Cancer

Sacituzumab govitEcan in THYroid Cancers

RECRUITING
NCT06235216Phase PHASE2Grupo Espanol de Tumores NeuroendocrinosStarted 2024-09-13
Sacituzumab govitecan
Advanced Breast CancerMetastatic Breast Cancer

HCQ+ADC vs ADC in the Treatment of Advanced Breast Cancer

RECRUITING
NCT06328387Phase PHASE1, PHASE2Sun Yat-Sen Memorial Hospital of Sun Yat-Sen UniversityStarted 2024-01-29
HydroxychloroquineSacituzumab GovitecanTrastuzumab Deruxtecan
Triple Negative Breast Cancer

Sacituzumab Tirumotecan Plus Anlotinib for Metastatic Triple Negative Breast Cancer

NOT YET RECRUITING
NCT07139470Phase PHASE1, PHASE2Tianjin Medical University Cancer Institute and HospitalStarted 2025-08-15
Sacituzumab Tirumotecan + anlotinib
Advanced Breast Cancer

Sacituzumab Govitecan Plus Bevacizumab in Metastatic TNBC

ENROLLING BY INVITATION
NCT07359404Phase PHASE2YING FANStarted 2024-04-01
Sacituzumab Govitecan (SG)Bevacizumab
Resectable Stage II-IIIB NSCLC

A Single-center, Phase II Clinical Trial Evaluating the Efficacy of Sacituzumab Tirumotecan in Combination With Tagitanlimab as Neoadjuvant Therapy for PD-L1-positive, Resectable Stage II to IIIB Non-small Cell Lung Cancer (NSCLC)

NOT YET RECRUITING
NCT07108816Phase PHASE2Henan Cancer HospitalStarted 2025-08-15
Neoadjuvant Sacituzumab tirumotecan + tagitanlimab Followed by adjuvant tagitanlimab
Breast NeoplasmBreast CancerBreast Tumors

Fudan University Shanghai Cancer Center Breast Cancer Precision Platform Series Study- Neoadjuvant Therapy

RECRUITING
NCT05582499Phase PHASE2Fudan UniversityStarted 2022-11-01
DalpiciclibPyrotinibSHR-A1811
Metastatic Non-small Cell Lung Cancer

A Study to Investigate the Efficacy and Safety of Dato-DXd With or Without Osimertinib Compared With Platinum Based Doublet Chemotherapy in Participants With EGFR-Mutated Locally Advanced or Metastatic Non-Small Cell Lung Cancer

RECRUITING
NCT06417814Phase PHASE3AstraZenecaStarted 2024-10-04
Dato-DXdOsimertinibPemetrexed
Breast Cancer

Genomic and Transcriptomic Predictors of Sequential SG Sensitivity After T-DXd in ER+/HER2-Low Metastatic Breast Cancer

RECRUITING
NCT06665178Phase PHASE2British Columbia Cancer AgencyStarted 2025-03-31
Sacituzumab Govitecan

External Resources

Links to major genomics databases and tools