RHBDF2 wt Allele

Preferred Label : RHBDF2 wt Allele;

NCIt synonyms : FLJ22341; TEC; IRHOM2; Rhomboid 5, Drosophila, Homolog of, 2 Gene; Tylosis With Esophageal Cancer Gene; Rhomboid 5 Homolog 2 (Drosophila) Gene; Rhomboid 5 Homolog 2 wt Allele; TOCG; Rhomboid, Veinlet-Like 6 (Drosophila) Gene; RHBDL5; RHBDL6; TOC;

NCIt definition : Human RHBDF2 wild-type allele is located in the vicinity of 17q25.3 and is approximately 31 kb in length. This allele, which encodes inactive rhomboid protein 2, is involved in the regulation of the secretion of various ligands of the epidermal growth factor receptor. Mutation of the gene is associated with tylosis with esophageal cancer.;

NCI Metathesaurus CUI : CL520213;

GenBank Accession Number : BC016034;

Details

Origin ID

C132323;

UMLS CUI

C4321442;

Automatic exact mappings (from CISMeF team)
- Rhomboid 5 homolog 2 [OMIM gene]
- Tec protein tyrosine kinase [OMIM gene]
- Transient erythroblastopenia of childhood [OMIM Phenotype]
- Tylosis with esophageal cancer [OMIM Phenotype]
- obsessive-compulsive disorder [MeSH Descriptor]
- palmoplantar keratoderma-esophageal carcinoma syndrome [DO Concept]
- rhomboid 5 homolog 2 [ORDO Gene]
- tomography, optical coherence [MeSH Descriptor]
OMIM relation
- Rhomboid 5 homolog 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 17q25.3 [NCIt concept]
gene_plays_role_in_process
- Intercellular Communication Process [NCIt concept]
- Protein Secretion [NCIt concept]
- Receptor Signaling [NCIt concept]

Keyword's position in hierarchy(ies) :

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