TGFBR1 wt Allele

Preferred Label : TGFBR1 wt Allele;

NCIt synonyms : TGFBR1; ACVRLK4; ALK-5; Transforming Growth Factor, Beta Receptor I Gene; Multiple Self-Healing Squamous Epithelioma Gene; Activin A Receptor Type II-Like Kinase, 53kDa Gene; LDS1; SKR4; Transforming Growth Factor-Beta Receptor, Type I Gene; MSSE; TbetaR-I; LDS2A; Transforming Growth Factor, Beta Receptor I (Activin A Receptor Type II-Like Kinase, 53kDa) Gene; AAT5; TBR-I; LDS1A; TGFR-1; ALK5; Transforming Growth Factor Beta Receptor 1 wt Allele; ESS1; TBRI;

NCIt definition : Human TGFBR1 wild-type allele is located within 9q22 and is approximately 45 kb in length. This allele, which encodes TGF-beta receptor type-1 protein, is involved in TGF-beta signal transduction. Mutations in this gene have been associated with Loeys-Dietz aortic aneurysm syndrome.;

GenBank Accession Number : NM_004612;

Details

Origin ID

C51730;

UMLS CUI

C1705613;

OMIM relation
- Transforming growth factor-beta receptor, type I [OMIM gene]
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_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 9q22 [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]
- MAPKinase 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]
- p38 MAPK Signaling Pathway BioCarta [NCIt concept]
gene_plays_role_in_process
- Cell Cycle Progression [NCIt concept]
- Ligand Binding [NCIt concept]
- Phosphorylation Process [NCIt concept]
- Receptor Signaling [NCIt concept]
- Serine/Threonine Phosphorylation [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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