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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
60
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Gelatinous droplike corneal dystrophy Pathogenic; Likely pathogenic rs780819073, rs80358223, rs80358224, rs80358225, rs1569579635, rs80358226, rs80358227, rs2523947665, rs80358228, rs2523948090 RCV002460351
RCV000017566
RCV000017567
RCV000017568
RCV000017569
RCV000017570
RCV000017571
RCV000017572
RCV000017573
RCV004584275
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Corneal Dystrophy, Dominant/Recessive Uncertain significance; Likely benign rs886046455, rs6683669 RCV000292133
RCV000315074
TACSTD2-related disorder Likely benign rs766747165, rs756761287, rs539258485 RCV003946680
RCV003981361
RCV003969275
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 16232198, 22482828
Adenocarcinoma Stimulate 28404926
Adenocarcinoma Bronchiolo Alveolar Associate 16232198
Adenocarcinoma Follicular Associate 37505760
Adenocarcinoma of Lung Associate 16232198, 33882870
Bone Diseases Associate 32283567
Breast Neoplasms Associate 23610368, 30268765, 35477165, 35882754, 36302269, 37517589, 37675806, 39837304, 40579360
Calcinosis Cutis Associate 37344281
Carcinogenesis Associate 22482828, 28709407
Carcinoma Associate 23416980, 31969666