TACSTD2

Chr 1AR

tumor associated calcium signal transducer 2

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

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]

OMIMResearchGenerating clinical summary…
MultiplemechanismARLOEUF 1.531 OMIM phenotype
Clinical SummaryTACSTD2
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
11 unique Pathogenic / Likely Pathogenic· 78 VUS of 119 total submissions
💊
Clinical Trials
12 active or recruiting trials — potential therapeutic options may be available

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.53LOEUF
pLI 0.005
Z-score 0.69
OE 0.69 (0.341.53)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.56Z-score
OE missense 0.89 (0.791.01)
187 obs / 209.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.69 (0.341.53)
00.351.4
Missense OE?0.89 (0.791.01)
00.61.4
Synonymous OE?0.75
01.21.6
LoF obs/exp: 4 / 5.8Missense obs/exp: 187 / 209.9Syn Z: 1.99
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
definitiveTACSTD2-related corneal dystrophy, gelatinous drop-likeOTHERAR

This gene — mechanism propensity

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

DN
0.6842th %ile
GOF
0.6638th %ile
LOF
0.2970th %ile

The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.

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

ClinVar Variant Classifications

119 submitted variants in ClinVar

Classification Summary

Pathogenic10
Likely Pathogenic1
VUS78
Likely Benign10
Benign16
Conflicting4
10
Pathogenic
1
Likely Pathogenic
78
VUS
10
Likely Benign
16
Benign
4
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
7
3
0
0
10
Likely Pathogenic
0
1
0
0
1
VUS
0
59
16
3
78
Likely Benign
0
1
4
5
10
Benign
0
4
11
1
16
Conflicting
4
Total768319119

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

View in ClinVar →

10 pathogenic / likely-pathogenic (of 14) ClinVar copy-number / structural variants overlap TACSTD2 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →

Protein Context — Lollipop Plot

TACSTD2 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

Bladder (Urothelial, Transitional Cell) Cancer Metastatic or UnresectableUpper Tract Urothelial Cancer

DDR Genes Alteration and Response to Platinum-based Chemotherapy in Advanced Urothelial Cancer.

RECRUITING
NCT06820255Phase PHASE4Fondazione Policlinico Universitario Agostino Gemelli IRCCSStarted 2025-01-07
Platinum + GemcitabineAvelumab first-line maintenanceNGS test for DDR alterations
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
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
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)

ACTIVE NOT RECRUITING
NCT06074588Phase PHASE3Merck Sharp & Dohme LLCStarted 2023-11-12
Sacituzumab tirumotecanDocetaxelPemetrexed
Recurrent Platinum-Sensitive Fallopian Tube Endometrioid AdenocarcinomaRecurrent Platinum-Sensitive Fallopian Tube High Grade Serous AdenocarcinomaRecurrent Platinum-Sensitive Ovarian High Grade Endometrioid Adenocarcinoma

Sacituzumab Govitecan With Bevacizumab Compared to Usual Chemotherapy (Carboplatin, Pegylated Liposomal Doxorubicin and Bevacizumab) for Treating Recurrent Platinum-Sensitive Ovarian Cancer After PARP Inhibitor Maintenance Therapy

NOT YET RECRUITING
NCT07504588Phase PHASE2National Cancer Institute (NCI)Started 2026-09-10
Anti-VEGF Monoclonal AntibodyBevacizumabBiospecimen Collection
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
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
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
Differentiated Thyroid CancerAnaplastic Thyroid Cancer

Sacituzumab govitEcan in THYroid Cancers

RECRUITING
NCT06235216Phase PHASE2Grupo Espanol de Tumores NeuroendocrinosStarted 2024-09-13
Sacituzumab govitecan
NSCLC Stage IVEGFR Gene Mutation

A Phase II Study of Sacituzumab Tirumotecan in Combination With Furmonertinib in Patients With Non-squamous Non-Small Cell Lung Cancer Who Have Progressed After EGFR-TKI and Platinum-Based Chemotherapy

RECRUITING
NCT07548060Phase PHASE2Tianjin Medical University Cancer Institute and HospitalStarted 2026-02-01
sacituzumab tirumotecan
Advanced Breast Cancer

Sacituzumab Govitecan Plus Bevacizumab in Metastatic TNBC

ENROLLING BY INVITATION
NCT07359404Phase PHASE2YING FANStarted 2024-04-01
Sacituzumab Govitecan (SG)Bevacizumab
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