Entry - *164013 - NUCLEAR FACTOR RELATED TO KAPPA-B BINDING PROTEIN; NFRKB - OMIM

 
 
* 164013

NUCLEAR FACTOR RELATED TO KAPPA-B BINDING PROTEIN; NFRKB


HGNC Approved Gene Symbol: NFRKB

Cytogenetic location: 11q24.3     Genomic coordinates (GRCh38): 11:129,863,636-129,895,578 (from NCBI)


TEXT

▼ Cloning and Expression

Nuclear factor-kappa-B (NFKB1, 164011; NFKB2, 164012) binds in vitro to several of the kappa-B regulatory elements found in cellular and viral genes. Another DNA binding protein, R-kappa-B, binds to a related variant of the kappa-B site that regulates interleukin-2 receptor alpha-chain (IL2RA; 147730) gene expression, a critical event in T-cell activation (Adams et al., 1992).


▼ Mapping

By Southern blot analysis of a human-mouse somatic cell hybrid panel and in situ hybridization using a fluorescent genomic probe, Adams et al. (1992) mapped the NFRKB gene to 11q24-q25. It was the most telomeric marker identified up to that point on 11q.


▼ REFERENCES

  1. Adams, B. S., Leung, K., Meltzer, P. S., Lewis, K. A., Wagner-McPherson, C., Evans, G. A., Nabel, G. J. Localization of the gene encoding R-kappa-B (NFRKB), a tissue-specific DNA binding protein, to chromosome 11q24-q25. Genomics 14: 270-274, 1992. [PubMed: 1427843, related citations] [Full Text]


Creation Date:
Victor A. McKusick : 10/14/1992
Edit History:
carol : 01/16/2014
carol : 8/5/2008
carol : 10/14/1992

* 164013

NUCLEAR FACTOR RELATED TO KAPPA-B BINDING PROTEIN; NFRKB


HGNC Approved Gene Symbol: NFRKB

Cytogenetic location: 11q24.3     Genomic coordinates (GRCh38): 11:129,863,636-129,895,578 (from NCBI)


TEXT

Cloning and Expression

Nuclear factor-kappa-B (NFKB1, 164011; NFKB2, 164012) binds in vitro to several of the kappa-B regulatory elements found in cellular and viral genes. Another DNA binding protein, R-kappa-B, binds to a related variant of the kappa-B site that regulates interleukin-2 receptor alpha-chain (IL2RA; 147730) gene expression, a critical event in T-cell activation (Adams et al., 1992).


Mapping

By Southern blot analysis of a human-mouse somatic cell hybrid panel and in situ hybridization using a fluorescent genomic probe, Adams et al. (1992) mapped the NFRKB gene to 11q24-q25. It was the most telomeric marker identified up to that point on 11q.


REFERENCES

  1. Adams, B. S., Leung, K., Meltzer, P. S., Lewis, K. A., Wagner-McPherson, C., Evans, G. A., Nabel, G. J. Localization of the gene encoding R-kappa-B (NFRKB), a tissue-specific DNA binding protein, to chromosome 11q24-q25. Genomics 14: 270-274, 1992. [PubMed: 1427843] [Full Text: https://doi.org/10.1016/s0888-7543(05)80216-2]


Creation Date:
Victor A. McKusick : 10/14/1992

Edit History:
carol : 01/16/2014
carol : 8/5/2008
carol : 10/14/1992



NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.
Printed: May 6, 2024