Terminology Service for NFDI4Health
JSON

RBPJ wt Allele

Go to external page http://purl.obolibrary.org/obo/NCIT_C114509

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. [ ]

Term info

Label

RBPJ wt Allele

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

NCIT_C116977, NCIT_C142800, NCIT_C142799

Display Name

RBPJ wt Allele

OMIM Number

147183

Preferred Name

RBPJ wt Allele

Semantic Type

Gene or Genome

UMLS CUI

C3889252

code

C114509