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CNBP

Reviewed November 2006

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 provides instructions for making a protein called CCHC-type zinc finger, nucleic acid binding protein. This protein is found in many of the body's tissues, but is most abundant in the heart and in muscles used for movement (skeletal muscles). Although the exact function of this protein remains unclear, it probably helps regulate genes involved in the production and use of cholesterol. The protein has seven regions, called zinc finger domains, which are thought to attach (bind) to specific sites on messenger RNA (a molecule similar to DNA that forms a blueprint for making proteins).

One region of the CNBP gene has a particular repeating sequence of four DNA building blocks (nucleotides), written as CCTG. The CCTG sequence is usually repeated fewer than 26 times within the gene and is called a tetranucleotide repeat.

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

myotonic dystrophy - caused by mutations in the CNBP gene

Type 2 myotonic dystrophy is caused by an expansion of the CCTG tetranucleotide repeat in the CNBP gene. This condition occurs when the CCTG segment is abnormally repeated 75 to more than 11,000 times.

Researchers have found that the mutated CNBP gene produces an altered messenger RNA, which interacts with certain proteins to form clumps within the cell. The abnormal clumps interfere with the production of many other proteins. These changes prevent cells in muscles and other tissues from functioning normally, leading to the signs and symptoms of type 2 myotonic dystrophy.

Where is the CNBP gene located?

Cytogenetic Location: 3q21

Molecular Location on chromosome 3: base pairs 130,371,121 to 130,385,391

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 130,371,121 to base pair 130,385,391 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.

  • Educational resources - Information pages
    Molecular Biology of the Cell (fourth edition, 2002): There Are Several Types of DNA-binding Zinc Finger Motifs (http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=mboc4.section.1222#1242)
  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=myotonic-d2)
  • Gene Tests - DNA tests ordered by healthcare professionals (http://www.genetests.org/query?testid=113763)

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/entrez/query.fcgi?CMD=search&DB=PubMed&term=((ZNF9[TIAB])+OR+(zinc+finger+protein+9[TIAB]))+OR+((Cellular+nucleic+acid+binding+protein[TIAB])+OR+(Cellular+retroviral+nucleic+acid-binding+protein+1[TIAB])+OR+(CNBP[TIAB])+OR+(CNBP1[TIAB])+OR+(DM2[TIAB])+OR+(zinc+finger+9+protein[TIAB])+OR+(zinc+finger+protein+273[TIAB]))+AND+((Genes[MH])+OR+(Genetic+Phenomena[MH]))+AND+english[la]+AND+human[mh]&orig_db=PubMed&filters=ON&pmfilter_EDatLimit=720+Days)
  • OMIM - Genetic disorder catalog (http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116955)
  • Research Resources - Tools for researchers
    • Entrez Gene (http://view.ncbi.nlm.nih.gov/gene/7555)
    • GeneCards (http://www.genecards.org/cgi-bin/carddisp?ZNF9)
    • HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=13164)

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?

acids ; cell ; cholesterol ; DNA ; domain ; gene ; messenger RNA ; molecule ; nucleic acid ; nucleotide ; protein ; RNA ; sign ; skeletal muscle ; symptom ; tissue ; zinc finger domain

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

References
  • 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/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=16376058)
  • 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/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=15639115)
  • 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/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=12601109)
  • 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/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=11929853)
  • Finsterer J. Myotonic dystrophy type 2. Eur J Neurol. 2002 Sep;9(5):441-7. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=12220374)
  • 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/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=11719277)
  • 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/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=11486088)
  • Machuca-Tzili L, Brook D, Hilton-Jones D. Clinical and molecular aspects of the myotonic dystrophies: a review. Muscle Nerve. 2005 Jul;32(1):1-18. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=15770660)
  • 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/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=15503094)
  • Ranum LP, Day JW. Myotonic dystrophy: RNA pathogenesis comes into focus. Am J Hum Genet. 2004 May;74(5):793-804. Epub 2004 Apr 02. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=15065017)

 

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: November 2006
Published: January 23, 2009