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] See more...

Aliases for TACSTD2 Gene

Aliases for TACSTD2 Gene

  • Tumor Associated Calcium Signal Transducer 2 2 3 5
  • GA733-1 2 3 4
  • TROP2 2 3 4
  • Membrane Component Chromosome 1 Surface Marker 1 2 4
  • Tumor-Associated Calcium Signal Transducer 2 3 4
  • Pancreatic Carcinoma Marker Protein GA733-1 3 4
  • Trophoblast Cell Surface Antigen 2 2 3
  • Cell Surface Glycoprotein Trop-2 3 4
  • Epithelial Glycoprotein-1 2 3
  • EGP-1 2 3
  • M1S1 3 4
  • 40kD Glycoprotein, Identified By Monoclonal Antibody GA733 3
  • Membrane Component, Chromosome 1, Surface Marker 1 3
  • Gastrointestinal Tumor-Associated Antigen GA7331 3
  • Pancreatic Carcinoma Marker Protein GA7331 3
  • Cell Surface Glycoprotein TROP2 3
  • Truncated TACSTD2 3
  • TACSTD2 5
  • GA7331 3
  • EGP1 3
  • GP50 3

External Ids for TACSTD2 Gene

Previous HGNC Symbols for TACSTD2 Gene

  • M1S1

Previous GeneCards Identifiers for TACSTD2 Gene

  • GC01M058957
  • GC01M057955
  • GC01M058398
  • GC01M058411
  • GC01M058412
  • GC01M058752
  • GC01M058813
  • GC01M059041
  • GC01M057151

Summaries for TACSTD2 Gene

Entrez Gene Summary for TACSTD2 Gene

  • 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]

CIViC Summary for TACSTD2 Gene

GeneCards Summary for TACSTD2 Gene

TACSTD2 (Tumor Associated Calcium Signal Transducer 2) is a Protein Coding gene. Diseases associated with TACSTD2 include Corneal Dystrophy, Gelatinous Drop-Like and Lattice Corneal Dystrophy. Among its related pathways are Ca, cAMP and Lipid Signaling and Adhesion. An important paralog of this gene is EPCAM.

UniProtKB/Swiss-Prot Summary for TACSTD2 Gene

Gene Wiki entry for TACSTD2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TACSTD2 Gene

Genomics for TACSTD2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TACSTD2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J058572 Promoter/Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 644.8 +1.7 1701 6.5 SP1 CREB1 POLR2A BACH1 TARDBP STAT3 JUND RELA SMAD5 TCF12 TACSTD2 OMA1 DAB1 RN7SL713P RF00017-226 lnc-TACSTD2-1
GH01J058544 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 30.7 +30.9 30889 2.9 CREB1 GATAD2A CTCF TEAD4 PRDM10 REST ZNF629 RFX1 IKZF1 ZNF692 OMA1 DAB1 ENSG00000286918 HSALNG0003928 TACSTD2
GH01J058583 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 44.7 -8.0 -7961 3.8 JUND PRDM1 IKZF2 YY1 PKNOX1 EED CEBPB SP1 SMARCC1 SMARCC2 HSALNG0003935 TACSTD2 OMA1 DAB1 MYSM1
GH01J058515 Enhancer 0.8 Ensembl ENCODE 46 +61.2 61166 0.6 CTCF IKZF1 REST RAD21 TRIM22 ZBTB40 SMC3 YY1 RFX5 ZNF654 TACSTD2 OMA1 DAB1 lnc-TACSTD2-4 ENSG00000286918
GH01J058591 Enhancer 1 Ensembl ENCODE dbSUPER 22 -15.3 -15264 2.6 ZNF692 ATF7 SP1 JUND CEBPB ESR1 CHD2 JUN RCOR1 ZBTB48 L13714-012 TACSTD2 HSALNG0003935 MYSM1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TACSTD2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TACSTD2

Top Transcription factor binding sites by QIAGEN in the TACSTD2 gene promoter:
  • AhR
  • AML1a
  • FOXD3
  • HEN1
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4
  • XBP-1

Genomic Locations for TACSTD2 Gene

Genomic Locations for TACSTD2 Gene
chr1:58,575,433-58,577,252
(GRCh38/hg38)
Size:
1,820 bases
Orientation:
Minus strand
chr1:59,041,095-59,043,166
(GRCh37/hg19)
Size:
2,072 bases
Orientation:
Minus strand

Genomic View for TACSTD2 Gene

Genes around TACSTD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TACSTD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TACSTD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TACSTD2 Gene

Proteins for TACSTD2 Gene

  • Protein details for TACSTD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P09758-TACD2_HUMAN
    Recommended name:
    Tumor-associated calcium signal transducer 2
    Protein Accession:
    P09758
    Secondary Accessions:
    • Q15658
    • Q6FG48
    • Q7Z7Q4
    • Q96QD2

    Protein attributes for TACSTD2 Gene

    Size:
    323 amino acids
    Molecular mass:
    35709 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for TACSTD2 Gene

neXtProt entry for TACSTD2 Gene

Post-translational modifications for TACSTD2 Gene

  • The N-terminus is blocked.
  • Glycosylation at Asn33, Ser93, Asn120, Asn168, and Asn208
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • TACD2_HUMAN (1865)

Other Protein References for TACSTD2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for TACSTD2
  • Boster Bio Antibodies for TACSTD2

No data available for DME Specific Peptides for TACSTD2 Gene

Domains & Families for TACSTD2 Gene

Gene Families for TACSTD2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for TACSTD2 Gene

InterPro:
Blocks:
  • Thyroglobulin type-1
ProtoNet:

Suggested Antigen Peptide Sequences for TACSTD2 Gene

GenScript: Design optimal peptide antigens:
  • Tumor-associated calcium signal transducer 2 (C5IX07_HUMAN)
  • Tumor-associated calcium signal transducer 2 (D1MF27_HUMAN)
  • Pancreatic carcinoma marker protein GA733-1 (TACD2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P09758

UniProtKB/Swiss-Prot:

TACD2_HUMAN :
  • Belongs to the EPCAM family.
Family:
  • Belongs to the EPCAM family.
genes like me logo Genes that share domains with TACSTD2: view

Function for TACSTD2 Gene

Molecular function for TACSTD2 Gene

UniProtKB/Swiss-Prot Function:
May function as a growth factor receptor.

Phenotypes From GWAS Catalog for TACSTD2 Gene

Gene Ontology (GO) - Molecular Function for TACSTD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15607035
genes like me logo Genes that share ontologies with TACSTD2: view
genes like me logo Genes that share phenotypes with TACSTD2: view

Human Phenotype Ontology for TACSTD2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TACSTD2 Gene

MGI Knock Outs for TACSTD2:

Animal Model Products

CRISPR Products

miRNA for TACSTD2 Gene

miRTarBase miRNAs that target TACSTD2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TACSTD2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TACSTD2 Gene

Localization for TACSTD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TACSTD2 Gene

Membrane. Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TACSTD2 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 5
nucleus 4
cytoskeleton 2
mitochondrion 2
peroxisome 2
endoplasmic reticulum 2
lysosome 2
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Nucleoli (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TACSTD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IEA,IBA 21873635
GO:0005634 nucleus IEA,IBA 21873635
GO:0005829 cytosol TAS 10192395
GO:0005886 plasma membrane IEA --
GO:0009925 basal plasma membrane IEA,ISS --
genes like me logo Genes that share ontologies with TACSTD2: view

Pathways & Interactions for TACSTD2 Gene

PathCards logo

SuperPathways for TACSTD2 Gene

genes like me logo Genes that share pathways with TACSTD2: view

Pathways by source for TACSTD2 Gene

2 Cell Signaling Technology pathways for TACSTD2 Gene

Gene Ontology (GO) - Biological Process for TACSTD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007601 visual perception TAS,IEA --
GO:0010633 negative regulation of epithelial cell migration IEA,ISS --
GO:0050678 regulation of epithelial cell proliferation IEA --
GO:0050896 response to stimulus IEA --
GO:0051497 negative regulation of stress fiber assembly IEA,ISS --
genes like me logo Genes that share ontologies with TACSTD2: view

No data available for SIGNOR curated interactions for TACSTD2 Gene

Drugs & Compounds for TACSTD2 Gene

(4) Drugs for TACSTD2 Gene - From: DrugBank, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sacituzumab govitecan Approved, Investigational Pharma Target, antibody 0
IMMU-132 Pharma inhibitor TROP2-targeted TOPO I inhibitor 0

(1) Additional Compounds for TACSTD2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TACSTD2: view

Transcripts for TACSTD2 Gene

mRNA/cDNA for TACSTD2 Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TACSTD2

Alternative Splicing Database (ASD) splice patterns (SP) for TACSTD2 Gene

No ASD Table

Relevant External Links for TACSTD2 Gene

GeneLoc Exon Structure for
TACSTD2

Expression for TACSTD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TACSTD2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TACSTD2 Gene

This gene is overexpressed in Esophagus - Mucosa (x14.5), Minor Salivary Gland (x9.4), Skin - Not Sun Exposed (Suprapubic) (x5.5), Skin - Sun Exposed (Lower leg) (x5.5), and Vagina (x4.9).

Protein differential expression in normal tissues from HIPED for TACSTD2 Gene

This gene is overexpressed in Nasal epithelium (53.3) and Liver (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TACSTD2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TACSTD2

SOURCE GeneReport for Unigene cluster for TACSTD2 Gene:

Hs.23582

mRNA Expression by UniProt/SwissProt for TACSTD2 Gene:

P09758-TACD2_HUMAN
Tissue specificity: Placenta, pancreatic carcinoma cell lines.

Evidence on tissue expression from TISSUES for TACSTD2 Gene

  • Pancreas(4.6)
  • Kidney(3.6)
  • Skin(3.5)
  • Lung(3.1)
  • Intestine(3)
  • Stomach(2.6)
  • Heart(2.5)
  • Blood(2.4)
  • Liver(2.4)
  • Nervous system(2.2)
  • Eye(2.2)
  • Muscle(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TACSTD2 Gene

Germ Layers:
  • ectoderm
Systems:
  • nervous
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with TACSTD2: view

No data available for Protein tissue co-expression partners for TACSTD2 Gene

Orthologs for TACSTD2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TACSTD2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TACSTD2 30 31
  • 99.78 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TACSTD2 30
  • 88.13 (n)
Cow
(Bos Taurus)
Mammalia TACSTD2 30 31
  • 86.31 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tacstd2 30
  • 82.22 (n)
Mouse
(Mus musculus)
Mammalia Tacstd2 30 17 31
  • 81.94 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TACSTD2 31
  • 65 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TACSTD2 30 31
  • 52.41 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TACSTD2 31
  • 52 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii epcam 31
  • 35 (a)
OneToMany
Species where no ortholog for TACSTD2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for TACSTD2 Gene

ENSEMBL:
Gene Tree for TACSTD2 (if available)
TreeFam:
Gene Tree for TACSTD2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TACSTD2: view image

Paralogs for TACSTD2 Gene

Paralogs for TACSTD2 Gene

(1) SIMAP similar genes for TACSTD2 Gene using alignment to 3 proteins:

  • TACD2_HUMAN
  • C5IX07_HUMAN
  • D1MF27_HUMAN
genes like me logo Genes that share paralogs with TACSTD2: view

Variants for TACSTD2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TACSTD2 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
16185 Pathogenic: Lattice corneal dystrophy Type III 58,576,524(-) CT/C FRAMESHIFT_VARIANT
715494 Conflicting Interpretations: Lattice corneal dystrophy Type III; not provided 58,576,422(-) G/A SYNONYMOUS_VARIANT
740065 Likely Benign: not provided 58,576,362(-) G/A SYNONYMOUS_VARIANT
873846 Benign: Lattice corneal dystrophy Type III 58,576,258(-) C/T MISSENSE_VARIANT
873847 Uncertain Significance: Lattice corneal dystrophy Type III 58,576,437(-) G/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for TACSTD2 Gene

Structural Variations from Database of Genomic Variants (DGV) for TACSTD2 Gene

Variant ID Type Subtype PubMed ID
dgv40e212 CNV loss 25503493
nsv1003930 CNV gain 25217958

Variation tolerance for TACSTD2 Gene

Residual Variation Intolerance Score: 64.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.41; 85.58% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TACSTD2 Gene

Human Gene Mutation Database (HGMD)
TACSTD2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TACSTD2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TACSTD2 Gene

Disorders for TACSTD2 Gene

MalaCards: The human disease database

(14) MalaCards diseases for TACSTD2 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
corneal dystrophy, gelatinous drop-like
  • gdld
lattice corneal dystrophy
  • familial amyloid neuropathy, finnish type
corneal dystrophy
epithelial and subepithelial dystrophy
taeniasis
  • beef tapeworm infection
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TACD2_HUMAN
  • Corneal dystrophy, gelatinous drop-like (GDLD) [MIM:204870]: A form of lattice corneal dystrophy, a class of inherited stromal amyloidoses characterized by pathognomonic branching lattice figures in the cornea. GDLD is an autosomal recessive disorder characterized by severe corneal amyloidosis leading to blindness. Clinical manifestations, which appear in the first decade of life, include blurred vision, photophobia, and foreign-body sensation. By the third decade, raised, yellowish-gray, gelatinous masses severely impair visual acuity. {ECO:0000269 PubMed:10192395}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TACSTD2

genes like me logo Genes that share disorders with TACSTD2: view

No data available for Genatlas for TACSTD2 Gene

Publications for TACSTD2 Gene

  1. Retroposition in a family of carcinoma-associated antigen genes. (PMID: 8382772) Linnenbach AJ … Huebner K (Molecular and cellular biology 1993) 2 3 4 23
  2. Compound heterozygous mutations of M1S1 gene in gelatinous droplike corneal dystrophy. (PMID: 15013888) Tian X … Liu Z (American journal of ophthalmology 2004) 3 23 41
  3. A novel mutation in the M1S1 gene responsible for gelatinous droplike corneal dystrophy. (PMID: 11687514) Tasa G … Lang A (Investigative ophthalmology & visual science 2001) 3 4 23
  4. Cloning of the gene encoding Trop-2, a cell-surface glycoprotein expressed by human carcinomas. (PMID: 7665234) Fornaro M … Alberti S (International journal of cancer 1995) 3 4 23
  5. Identification and characterization of a novel TACSTD2 mutation in gelatinous drop-like corneal dystrophy. (PMID: 20454699) Paliwal P … Vajpayee RB (Molecular vision 2010) 3 23

Products for TACSTD2 Gene

Sources for TACSTD2 Gene