RBPJ wt Allele

Preferred Label : RBPJ wt Allele;

NCIt synonyms : IGKJRB; AOS3; csl; KBF2; RBPSUH; Recombining Binding Protein Suppressor of Hairless (Drosophila) Gene; CBF1; Recombination Signal-Binding Protein Suppressor of Hairless, Drosophila, Homolog of Gene; Suppressor of Hairless Homolog (Drosophila) Gene; Recombination Signal Binding Protein For Immunoglobulin Kappa J Region wt Allele; RBP-J; RBPJK; IGKJRB1; SUH;

NCIt definition : Human RBPJ wild-type allele is located in the vicinity of 4p15.2 and is approximately 271 kb in length. This allele, which encodes recombining binding protein suppressor of hairless protein, is involved in both transcriptional regulation and intercellular communication. Mutation of the gene is associated with Adams-Oliver syndrome 3.;

GenBank Accession Number : L07872;

Details

Origin ID

C114509;

UMLS CUI

C3889252;

Automatic exact mappings (from CISMeF team)
- Chorionic somatomammotropin hormone-like 1 [OMIM gene]
- Recombination signal-binding protein for immunoglobulin kappa j region [OMIM gene]
- Small muscle protein, X-linked [OMIM gene]
- recombination signal binding protein for immunoglobulin kappa J region [ORDO Gene]
OMIM relation
- Recombination signal-binding protein for immunoglobulin kappa j region [OMIM gene]
See also inter- (CISMeF)
- Adams-oliver syndrome 3 [OMIM Phenotype]
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
- Notch Proteolysis and Signaling Pathway [NCIt concept]
- Notch Signaling Pathway [NCIt concept]
- Presenilin Action in Notch and Wnt Signaling Pathways [NCIt concept]
- Segmentation Clock Pathway [NCIt concept]
gene_plays_role_in_process
- Intercellular Communication Process [NCIt concept]
- Morphogenesis [NCIt concept]
- Signal Transduction [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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