Gene Gene information from NCBI Gene database.
Entrez ID 4070
Gene name Tumor associated calcium signal transducer 2
Gene symbol TACSTD2
Synonyms (NCBI Gene)
EGP-1EGP1GA733-1GA7331GP50M1S1TROP2
Chromosome 1
Chromosome location 1p32.1
Summary 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]
SNPs SNP information provided by dbSNP.
7
SNP ID Visualize variation Clinical significance Consequence
rs80358223 G>A Pathogenic Coding sequence variant, stop gained
rs80358224 G>A Pathogenic Coding sequence variant, stop gained
rs80358225 G>T Pathogenic Coding sequence variant, stop gained
rs80358226 A>C,G,T Pathogenic Initiator codon variant, missense variant
rs80358227 A>T Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
143
miRTarBase ID miRNA Experiments Reference
MIRT001496 hsa-miR-155-5p pSILAC 18668040
MIRT017057 hsa-miR-335-5p Microarray 18185580
MIRT001496 hsa-miR-155-5p Proteomics;Other 18668040
MIRT438121 hsa-miR-125b-1-3p Luciferase reporter assay 23416980
MIRT438121 hsa-miR-125b-1-3p Luciferase reporter assay 23416980
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
32
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 15607035, 32296183
GO:0005615 Component Extracellular space IBA
GO:0005615 Component Extracellular space IEA
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
137290 11530 ENSG00000184292
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P09758
Protein name Tumor-associated calcium signal transducer 2 (Cell surface glycoprotein Trop-2) (Membrane component chromosome 1 surface marker 1) (Pancreatic carcinoma marker protein GA733-1)
Protein function May function as a growth factor receptor.
PDB 2MAE , 2MVK , 2MVL , 7E5M , 7E5N , 7PEE
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00086 Thyroglobulin_1 73 145 Thyroglobulin type-1 repeat Domain
Tissue specificity TISSUE SPECIFICITY: Placenta, pancreatic carcinoma cell lines.
Sequence
MARGPGLAPPPLRLPLLLLVLAAVTGHTAAQDNCTCPTNKMTVCSPDGPGGRCQCRALGS
GMAVDCSTLTSKCLLLKARMSAPKNARTLVRPSEHALVDNDGLYDPDCDPEGRFKARQCN
QTSVCWCVNSVGVRRTDKGDLSLRC
DELVRTHHILIDLRHRPTAGAFNHSDLDAELRRLF
RERYRLHPKFVAAVHYEQPTIQIELRQNTSQKAAGDVDIGDAAYYFERDIKGESLFQGRG
GLDLRVRGEPLQVERTLIYYLDEIPPKFSMKRLTAGLIAVIVVVVVALVAGMAVLVITNR
RKSGKYKKVEIKELGELRKEPSL
Sequence length 323
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Gelatinous droplike corneal dystrophy Pathogenic; Likely pathogenic rs780819073, rs80358223, rs80358224, rs80358225, rs1569579635, rs80358226, rs80358227, rs2523947665, rs80358228, rs2523948090 RCV002460351
RCV000017566
RCV000017567
RCV000017568
RCV000017569
View all (5 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AORTIC STENOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AORTIC VALVE CALCIFICATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORNEAL DYSTROPHY Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Corneal Dystrophy, Dominant/Recessive Uncertain significance; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 16232198, 20473768, 26015409, 28404926
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 16232198
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 16232198
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis LHGDN 17653040
★☆☆☆☆
Found in Text Mining only
Anaplastic thyroid carcinoma Anaplastic thyroid cancer BEFREE 26481593
★☆☆☆☆
Found in Text Mining only
Asymmetric Septal Hypertrophy Septal Hypertrophy BEFREE 29095436
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 28938585, 29901071
★☆☆☆☆
Found in Text Mining only
Bone Diseases Bone disease Pubtator 32283567 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 22053771, 23610368, 29901160, 30002602
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 23610368, 30268765, 35477165, 35882754, 36302269, 37517589, 37675806, 39837304, 40579360 Associate
★☆☆☆☆
Found in Text Mining only