BMP2 wt Allele

Preferred Label : BMP2 wt Allele;

NCIt synonyms : Bone Morphogenetic Protein 2 wt Allele; Bone Morphogenetic Protein 2A Gene; BMP2A; BDA2;

NCIt definition : Human BMP2 wild-type allele is located within 20p12 and is approximately 11 kb in length. This allele, which encodes bone morphogenetic protein 2, is involved in the induction of bone and cartilage formation. Variant alleles stemming from the BMP2 gene are involved in the autosomal dominant disease of fibrodysplasia (myositis) ossificans progressiva.;

GenBank Accession Number : NM_001200;

Details

Origin ID

C51529;

UMLS CUI

C1706894;

Automatic exact mappings (from CISMeF team)
- Bone morphogenetic protein 2 [OMIM gene]
- Brachydactyly, type a2 [OMIM Phenotype]
- bone morphogenetic protein 2 [ORDO Gene]
- brachydactyly type A2 [DO Concept]
OMIM relation
- Bone morphogenetic protein 2 [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_associated_with_disease
- Fibrodysplasia Ossificans Progressiva [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 20: 6697207-6707769 [NCIt concept]
gene_in_chromosomal_location
- 20p12 [NCIt concept]
gene_is_element_in_pathway
- ALK Pathway [NCIt concept]
- Basal Cell Carcinoma Pathway [NCIt concept]
- Cytokine-Cytokine Receptor Signaling Pathway [NCIt concept]
- Hedgehog Signaling Pathway [NCIt concept]
- TGF-beta Signaling Pathway KEGG [NCIt concept]
gene_plays_role_in_process
- Cell Differentiation Process [NCIt concept]
- Cell Proliferation Regulatory Process [NCIt concept]
- Cytokine Signaling [NCIt concept]
- Cytokine Signaling Process [NCIt concept]
- Developmental Process [NCIt concept]
- Intercellular Communication Process [NCIt concept]
- Receptor Signaling [NCIt concept]
- Skeletal Development [NCIt concept]

Keyword's position in hierarchy(ies) :

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