TGFBR2 wt Allele

Preferred Label : TGFBR2 wt Allele;

NCIt synonyms : HNPCC6; Transforming Growth Factor, Beta Receptor II (70/80kDa) wt Allele; TGFBR2;

NCIt definition : Human TGFBR2 wild-type allele is located within 3p22 and is approximately 88 kb in length. This allele, which encodes TGF-beta receptor type-2 protein, plays a role in transcriptional regulation and cellular proliferation control. Mutations in this gene have been associated with Marfan Syndrome, Loeys-Deitz Aortic Aneurysm Syndrome, and the development of various types of tumors.;

GenBank Accession Number : NM_003242;

Details

Origin ID

C51733;

UMLS CUI

C1705614;

Automatic exact mappings (from CISMeF team)
- Receptor, Transforming Growth Factor-beta Type II [MeSH Descriptor]
- Transforming growth factor-beta receptor, type II [OMIM gene]
- colorectal cancer, hereditary nonpolyposis, type 6 [MeSH Supplementary Concept]
- hereditary nonpolyposis colorectal cancer type 6 [DO Concept]
- transforming growth factor beta receptor 2 [ORDO Gene]
OMIM relation
- Transforming growth factor-beta receptor, type II [OMIM gene]
See also inter- (CISMeF)
- Colorectal cancer, hereditary nonpolyposis, type 6 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_associated_with_disease
- Lynch Syndrome [NCIt concept]
- Malignant Colon Neoplasm [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_abnormality
- TGFBR2 Gene Inactivation [NCIt concept]
gene_in_chromosomal_location
- 3p22 [NCIt concept]
gene_is_element_in_pathway
- ALK Pathway [NCIt concept]
- Adherens Junction Assembly Pathway [NCIt concept]
- CTCF Pathway [NCIt concept]
- Chagas Disease Pathway [NCIt concept]
- Chronic Myeloid Leukemia Pathway [NCIt concept]
- Colorectal Cancer Pathway [NCIt concept]
- Cytokine-Cytokine Receptor Signaling Pathway [NCIt concept]
- Endocytosis Pathway [NCIt concept]
- Glypican 1 Signaling Pathway [NCIt concept]
- MAPK Signaling Pathway [NCIt concept]
- NFKB Activation Pathway [NCIt concept]
- Pancreatic Cancer Pathway [NCIt concept]
- TGF Beta Signaling Pathway BioCarta [NCIt concept]
- TGF-Beta Receptor Signaling Pathway [NCIt concept]
- TGF-beta Signaling Pathway KEGG [NCIt concept]
gene_plays_role_in_process
- Cell Proliferation [NCIt concept]
- Ligand Binding [NCIt concept]
- Phosphorylation Process [NCIt concept]
- Receptor Signaling [NCIt concept]
- Serine/Threonine Phosphorylation [NCIt concept]
- Signal Transduction [NCIt concept]
- Tumor Suppression [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients