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Genetics Home Reference: your guide to understanding genetic conditions
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CNBP

Reviewed October 2010

What is the official name of the CNBP gene?

The official name of this gene is “CCHC-type zinc finger, nucleic acid binding protein.”

CNBP is the gene's official symbol. The CNBP gene is also known by other names, listed below.

What is the normal function of the CNBP gene?

The CNBP gene (also known as ZNF9) provides instructions for making a protein called CCHC-type zinc finger, nucleic acid binding protein. This protein has seven regions, called zinc finger domains, which are thought to attach (bind) to specific sites on DNA and its chemical cousin, RNA.

The CNBP protein is found in many of the body's tissues, but it is most abundant in the heart and in muscles used for movement (skeletal muscles). Although the exact function of this protein is unclear, it appears to regulate the activity of other genes. The CNBP protein is necessary for normal embryonic development.

One region of the CNBP gene contains a segment of four DNA building blocks (nucleotides) that is repeated multiple times. This sequence, which is written as CCTG, is called a tetranucleotide repeat. In most people, the CCTG sequence is repeated fewer than 26 times.

Does the CNBP gene share characteristics with other genes?

The CNBP gene belongs to a family of genes called RNF (RING-type zinc fingers). It also belongs to a family of genes called ZCCHC (zinc fingers, CCHC domain containing).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the CNBP gene related to health conditions?

myotonic dystrophy - caused by mutations in the CNBP gene

Type 2 myotonic dystrophy results from a mutation in the CNBP gene known as a tetranucleotide repeat expansion. This mutation increases the size of the repeated CCTG segment in the CNBP gene. People with type 2 myotonic dystrophy have from 75 to more than 11,000 CCTG repeats.

The mutated CNBP gene produces an altered version of messenger RNA, which is a molecular blueprint of the gene that is normally used to guide the production of proteins. Researchers have found that the altered messenger RNA traps proteins to form clumps within the cell. The clumps interfere with the production of many other proteins. These changes prevent muscle cells and cells in other tissues from functioning properly, leading to muscle weakness and the other features of type 2 myotonic dystrophy.

Where is the CNBP gene located?

Cytogenetic Location: 3q21

Molecular Location on chromosome 3: base pairs 129,167,814 to 129,183,966

The CNBP gene is located on the long (q) arm of chromosome 3 at position 21.

The CNBP gene is located on the long (q) arm of chromosome 3 at position 21.

More precisely, the CNBP gene is located from base pair 129,167,814 to base pair 129,183,966 on chromosome 3.

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 CNBP?

You and your healthcare professional may find the following resources about CNBP helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the CNBP gene or gene products?

  • cellular nucleic acid binding protein
  • cellular retroviral nucleic acid-binding protein 1
  • CNBP1
  • CNBP_HUMAN
  • DM2
  • ZCCHC22
  • zinc finger 9 protein
  • zinc finger protein 9
  • zinc finger protein 9 (a cellular retroviral nucleic acid binding protein)
  • zinc finger protein 273
  • ZNF9

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 CNBP?

cell ; chaperone ; DNA ; embryonic ; gene ; messenger RNA ; muscle cells ; mutation ; nucleic acid ; protein ; RNA

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Armas P, Agüero TH, Borgognone M, Aybar MJ, Calcaterra NB. Dissecting CNBP, a zinc-finger protein required for neural crest development, in its structural and functional domains. J Mol Biol. 2008 Oct 17;382(4):1043-56. doi: 10.1016/j.jmb.2008.07.079. Epub 2008 Aug 5. (http://www.ncbi.nlm.nih.gov/pubmed/18703071?dopt=Abstract)
  • Armas P, Nasif S, Calcaterra NB. Cellular nucleic acid binding protein binds G-rich single-stranded nucleic acids and may function as a nucleic acid chaperone. J Cell Biochem. 2008 Feb 15;103(3):1013-36. (http://www.ncbi.nlm.nih.gov/pubmed/17661353?dopt=Abstract)
  • Bachinski LL, Czernuszewicz T, Ramagli LS, Suominen T, Shriver MD, Udd B, Siciliano MJ, Krahe R. Premutation allele pool in myotonic dystrophy type 2. Neurology. 2009 Feb 10;72(6):490-7. doi: 10.1212/01.wnl.0000333665.01888.33. Epub 2008 Nov 19. (http://www.ncbi.nlm.nih.gov/pubmed/19020295?dopt=Abstract)
  • Botta A, Caldarola S, Vallo L, Bonifazi E, Fruci D, Gullotta F, Massa R, Novelli G, Loreni F. Effect of the [CCTG]n repeat expansion on ZNF9 expression in myotonic dystrophy type II (DM2). Biochim Biophys Acta. 2006 Mar;1762(3):329-34. Epub 2005 Dec 6. (http://www.ncbi.nlm.nih.gov/pubmed/16376058?dopt=Abstract)
  • Cho DH, Tapscott SJ. Myotonic dystrophy: emerging mechanisms for DM1 and DM2. Biochim Biophys Acta. 2007 Feb;1772(2):195-204. Epub 2006 Jun 20. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16876389?dopt=Abstract)
  • Day JW, Ranum LP. RNA pathogenesis of the myotonic dystrophies. Neuromuscul Disord. 2005 Jan;15(1):5-16. Epub 2004 Nov 26. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15639115?dopt=Abstract)
  • Day JW, Ricker K, Jacobsen JF, Rasmussen LJ, Dick KA, Kress W, Schneider C, Koch MC, Beilman GJ, Harrison AR, Dalton JC, Ranum LP. Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum. Neurology. 2003 Feb 25;60(4):657-64. (http://www.ncbi.nlm.nih.gov/pubmed/12601109?dopt=Abstract)
  • Fardaei M, Rogers MT, Thorpe HM, Larkin K, Hamshere MG, Harper PS, Brook JD. Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells. Hum Mol Genet. 2002 Apr 1;11(7):805-14. (http://www.ncbi.nlm.nih.gov/pubmed/11929853?dopt=Abstract)
  • Finsterer J. Myotonic dystrophy type 2. Eur J Neurol. 2002 Sep;9(5):441-7. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12220374?dopt=Abstract)
  • Larkin K, Fardaei M. Myotonic dystrophy--a multigene disorder. Brain Res Bull. 2001 Oct-Nov 1;56(3-4):389-95. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11719277?dopt=Abstract)
  • Liquori CL, Ricker K, Moseley ML, Jacobsen JF, Kress W, Naylor SL, Day JW, Ranum LP. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science. 2001 Aug 3;293(5531):864-7. (http://www.ncbi.nlm.nih.gov/pubmed/11486088?dopt=Abstract)
  • Meola G, Moxley RT 3rd. Myotonic dystrophy type 2 and related myotonic disorders. J Neurol. 2004 Oct;251(10):1173-82. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15503094?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/7555)
  • Ranum LP, Day JW. Myotonic dystrophy: RNA pathogenesis comes into focus. Am J Hum Genet. 2004 May;74(5):793-804. Epub 2004 Apr 2. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15065017?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 healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: October 2010
Published: December 22, 2014