Reviewed November 2015
What is the official name of the RBPJ gene?
The official name of this gene is “recombination signal binding protein for immunoglobulin kappa J region.”
RBPJ is the gene's official symbol. The RBPJ gene is also known by other names, listed below.
What is the normal function of the RBPJ gene?
The RBPJ gene provides instructions for making a protein called RBP-J, which is an integral part of a signaling pathway known as the Notch pathway. Notch signaling controls how certain types of cells develop in the growing embryo, including those that form the bones, heart, muscles, nerves, and blood. Signaling through the Notch pathway stimulates the RBP-J protein to attach (bind) to specific regions of DNA and control the activity of genes that play a role in cellular development.
How are changes in the RBPJ gene related to health conditions?
- Adams-Oliver syndrome - caused by mutations in the RBPJ gene
Mutations in the RBPJ gene lead to Adams-Oliver syndrome, a condition characterized by areas of missing skin (aplasia cutis congenita), usually on the scalp, and malformations of the hands and feet. These mutations change single protein building blocks in the RBP-J protein, altering the region of the protein that normally binds to DNA. The altered proteins are unable to bind to DNA, preventing the activation of particular genes. These changes in gene activity impair the proper development of the skin on the top of the head and the bones in the hands and feet. It is unclear why impaired development primarily affects these tissues.
Where is the RBPJ gene located?
Cytogenetic Location: 4p15.2
Molecular Location on chromosome 4: base pairs 26,163,494 to 26,435,131
(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/3516))
The RBPJ gene is located on the short (p) arm of chromosome 4 at position 15.2.
More precisely, the RBPJ gene is located from base pair 26,163,494 to base pair 26,435,131 on chromosome 4.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about RBPJ?
You and your healthcare professional may find the following resources about RBPJ helpful.
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for RBPJ (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3516%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28%28RBPJ%5BTIAB%5D%29%20OR%20%28recombination%20signal%20binding%20protein%20for%20immunoglobulin%20kappa%20J%20region%5BTIAB%5D%29%29%20AND%20%28%28Genes%5BMH%5D%29%20OR%20%28Genetic%20Phenomena%5BMH%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201800%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/147183)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_RBPJ.html)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=5724)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/3516)
What other names do people use for the RBPJ gene or gene products?
- H-2K binding factor-2
- immunoglobulin kappa J region recombination signal binding protein 1
- RBP-J kappa
- recombining binding protein suppressor of hairless
- recombining binding protein suppressor of hairless isoform 3
- renal carcinoma antigen NY-REN-30
- suppressor of hairless homolog
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding RBPJ?
You may find definitions for these and many other terms in the Genetics Home Reference
- Castel D, Mourikis P, Bartels SJ, Brinkman AB, Tajbakhsh S, Stunnenberg HG. Dynamic binding of RBPJ is determined by Notch signaling status. Genes Dev. 2013 May 1;27(9):1059-71. doi: 10.1101/gad.211912.112. Erratum in: Genes Dev. 2013 Jun 1;27(11):1313. (http://www.ncbi.nlm.nih.gov/pubmed/23651858?dopt=Abstract)
- Hassed SJ, Wiley GB, Wang S, Lee JY, Li S, Xu W, Zhao ZJ, Mulvihill JJ, Robertson J, Warner J, Gaffney PM. RBPJ mutations identified in two families affected by Adams-Oliver syndrome. Am J Hum Genet. 2012 Aug 10;91(2):391-5. doi: 10.1016/j.ajhg.2012.07.005. (http://www.ncbi.nlm.nih.gov/pubmed/22883147?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/3516)
- OMIM: RECOMBINATION SIGNAL-BINDING PROTEIN FOR IMMUNOGLOBULIN KAPPA J REGION (http://omim.org/entry/147183)
- Zanotti S, Canalis E. Notch signaling in skeletal health and disease. Eur J Endocrinol. 2013 May 8;168(6):R95-103. doi: 10.1530/EJE-13-0115. Print 2013 Jun. Review. (http://www.ncbi.nlm.nih.gov/pubmed/23554451?dopt=Abstract)
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.