ROR2 wt Allele

Preferred Label : ROR2 wt Allele;

NCIt synonyms : BDB1; Receptor Tyrosine Kinase-Like Orphan Receptor 2 wt Allele; BDB; NTRKR2;

NCIt definition : Human ROR2 wild-type allele is located within 9q22 and is approximately 228 kb in length. This allele, which encodes tyrosine-protein kinase transmembrane receptor ROR2 protein, may play a role in early chondrocyte formation or may be required for cartilage and growth plate development, but an exact function has yet to be determined. Mutations in the gene can cause brachydactyly type B and the autosomal recessive form of Robinow syndrome.;

GenBank Accession Number : NM_004560;

Details

Origin ID

C52216;

UMLS CUI

C1704846;

OMIM relation
- Receptor tyrosine kinase-like orphan receptor 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_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 9q22 [NCIt concept]
gene_is_element_in_pathway
- Noncanonical Wnt Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Migration Induction [NCIt concept]
- Cell Proliferation Regulatory Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Phosphorylation Process [NCIt concept]
- Receptor Signaling [NCIt concept]
- Tyrosine Phosphorylation [NCIt concept]

Keyword's position in hierarchy(ies) :

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