Preferred Label : TACSTD2 wt Allele;
NCIt synonyms : GA733-1; TROP2; TACSTD2; Gastrointestinal Tumor-Associated Antigen 1, 40-kD Glycoprotein Gene; M1S1; Tumor-Associated Calcium Signal Transducer 2 Gene; EGP1; GA7331; GP50; EGP-1; Membrane Component, Chromosome 1, Surface Marker 1 Gene; Tumor Associated Calcium Signal Transducer 2 wt Allele;
NCIt definition : Human TACSTD2 wild-type allele is located within 1p32-p31 and is approximately 3 kb
in length. This allele, which encodes tumor-associated calcium signal transducer 2
protein, is involved in intracellular calcium signal transduction. Mutations of the
gene result in gelatinous drop-like corneal dystrophy.;
NCIt note : The TACSTD2 gene contains one thyroglobulin type-I domain and a single exon that encodes
a predicted 35.7-kD protein with four potential N-linked glycosylation sites and a
conserved potential cytoplasmic phosphorylation site. TACSTD2 is expressed in the
cornea as well as in kidney, lung, placenta, pancreas, prostate, gastrointestinal
tumors, and pancreatic carcinoma cell lines. Deletion or truncation of the gene product
appears to be associated with Gelatinous Drop-Like Corneal Dystrophy, an autosomal
recessive disorder characterized by grayish corneal amyloid deposits that cause severe
visual impairment. This intronless gene encodes a carcinoma-associated antigen defined
by the monoclonal antibody GA733.;
GenBank Accession Number : NM_002353; X77753;
Origin ID : C52232;
UMLS CUI : C1705835;
Automatic exact mappings (from CISMeF team)
- OMIM relation
- Semantic type(s)
- concept_is_in_subset
- gene_found_in_organism
- gene_in_chromosomal_location
- gene_plays_role_in_process
