RSPO2 wt Allele

Preferred Label : RSPO2 wt Allele;

NCIt synonyms : UNQ9384/PRO34209; CRISTIN2; R-Spondin 2 wt Allele; MGC35555; TETAMS2; HHRRD; R-Spondin Family, Member 2 Gene;

NCIt definition : Human RSPO2 wild-type allele is located in the vicinity of 8q23.1 and is approximately 184 kb in length. This allele, which encodes R-spondin-2 protein, is involved in both signal transduction and embryonic limb formation.;

NCIt note : Chromosomal aberrations resulting in RSPO2 gene fusions are associated with colon cancer. (Nature. 2012; 488:660-664.);

GenBank Accession Number : AK123023;

Details

Origin ID

C106068;

UMLS CUI

C3813154;

Automatic exact mappings (from CISMeF team)
- Humerofemoral hypoplasia with radiotibial ray deficiency [OMIM Phenotype]
- R-spondin 2 [ORDO Gene]
- R-spondin 2 [OMIM gene]
- Tetraamelia syndrome 2 [OMIM Phenotype]
- tetraamelia syndrome 2 [DO Concept]
OMIM relation
- R-spondin 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_plays_role_in_process
- Limb Development [NCIt concept]
- Morphogenesis [NCIt concept]
- Signal Transduction [NCIt concept]
- Signal Transduction Induction [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients