BMPR1B wt Allele

Preferred Label : BMPR1B wt Allele;

NCIt synonyms : ALK6; CDw293; ALK-6; Bone Morphogenetic Protein Receptor, Type IB wt Allele;

NCIt definition : Human BMPR1B wild-type allele is located within 4q22-q24 and is approximately 397 kb in length. This allele, which encodes bone morphogenetic protein receptor type IB protein, plays a role in the regulation of signaling. Mutations in the gene are associated with both acromesomelic chondrodysplasia with genital anomalies and brachydactyly types A2 and C.;

NCIt note : Methylation of the BMPR1B gene may be a factor in the development of some brain tumors.;

GenBank Accession Number : D89675;

Details

Origin ID

C73560;

UMLS CUI

C2346901;

OMIM relation
- Bone morphogenetic protein receptor, type ib [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_is_element_in_pathway
- BMP Receptor Signaling Pathway [NCIt concept]
- Cytokine-Cytokine Receptor Signaling Pathway [NCIt concept]
- TGF-beta Signaling Pathway KEGG [NCIt concept]
gene_plays_role_in_process
- Ligand Binding [NCIt concept]
- Phosphorylation Process [NCIt concept]
- Receptor Signaling [NCIt concept]
- Serine/Threonine Phosphorylation [NCIt concept]
- Signal Transduction [NCIt concept]
- Skeletal Development [NCIt concept]

Keyword's position in hierarchy(ies) :

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