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Genetics Home Reference: your guide to understanding genetic conditions
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WNT3

Reviewed February 2008

What is the official name of the WNT3 gene?

The official name of this gene is “wingless-type MMTV integration site family, member 3.”

WNT3 is the gene's official symbol. The WNT3 gene is also known by other names, listed below.

What is the normal function of the WNT3 gene?

The WNT3 gene is part of a large family of WNT genes, which play critical roles in development before birth. WNT genes provide instructions for making proteins that participate in chemical signaling pathways in the body. These pathways control the activity of certain genes and regulate the interactions between cells during embryonic development.

Research in animals indicates that the protein produced from the WNT3 gene is critical for the outgrowth of the limbs in the developing embryo. The WNT3 protein also appears to play an important role in determining the anterior-posterior axis (the imaginary line that runs from head to tail in animals) during the earliest stages of embryonic development. Additionally, the effects of mutations in the human WNT3 gene suggest that the protein may be involved in the normal formation of the facial features, head, heart, lungs, nervous system, skeleton, and genitalia.

Does the WNT3 gene share characteristics with other genes?

The WNT3 gene belongs to a family of genes called WNT (wingless-type MMTV integration site family).

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 WNT3 gene related to health conditions?

tetra-amelia syndrome - caused by mutations in the WNT3 gene

A mutation in the WNT3 gene has been shown to cause tetra-amelia syndrome among members of one large family from Turkey. This mutation, which occurs in both copies of the WNT3 gene in each cell, replaces one protein building block (amino acid) with a premature stop signal in the instructions for making the WNT3 protein. This mutation is written as Gln83Ter or Q83X.

Researchers believe that the Gln83Ter mutation results in the production of an abnormally short, nonfunctional version of the WNT3 protein. Loss of the WNT3 protein disrupts normal limb formation before birth and leads to the other serious birth defects associated with tetra-amelia syndrome.

Where is the WNT3 gene located?

Cytogenetic Location: 17q21

Molecular Location on chromosome 17: base pairs 44,841,685 to 44,896,081

The WNT3 gene is located on the long (q) arm of chromosome 17 at position 21.

The WNT3 gene is located on the long (q) arm of chromosome 17 at position 21.

More precisely, the WNT3 gene is located from base pair 44,841,685 to base pair 44,896,081 on chromosome 17.

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 WNT3?

You and your healthcare professional may find the following resources about WNT3 helpful.

  • Educational resources - Information pages
    Developmental Biology (sixth edition, 2000): The Wnt Family (http://www.ncbi.nlm.nih.gov/books/NBK10071/)
  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1276/)

  • Genetic Testing Registry - Repository of genetic test information

    • GTR: Genetic tests for WNT3 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7473%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=(WNT3%5BTIAB%5D)%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201440%20days%22%5Bdp%5D)
  • OMIM - Genetic disorder catalog (http://omim.org/entry/165330)

  • Research Resources - Tools for researchers

    • Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_WNT3.html)
    • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/7473)
    • GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=7473)
    • HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=12782)

What other names do people use for the WNT3 gene or gene products?

  • INT4
  • Oncogene INT4
  • Proto-oncogene protein Wnt-3
  • WNT3_HUMAN
  • WNT-3 proto-oncogene protein

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 WNT3?

amelia ; amino acid ; anterior ; axis ; cell ; embryo ; embryonic ; gene ; genitalia ; mutation ; nervous system ; oncogene ; posterior ; protein ; proto-oncogene ; syndrome

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

References

  • Barrow JR, Howell WD, Rule M, Hayashi S, Thomas KR, Capecchi MR, McMahon AP. Wnt3 signaling in the epiblast is required for proper orientation of the anteroposterior axis. Dev Biol. 2007 Dec 1;312(1):312-20. Epub 2007 Sep 26. (http://www.ncbi.nlm.nih.gov/pubmed/18028899?dopt=Abstract)
  • Barrow JR, Thomas KR, Boussadia-Zahui O, Moore R, Kemler R, Capecchi MR, McMahon AP. Ectodermal Wnt3/beta-catenin signaling is required for the establishment and maintenance of the apical ectodermal ridge. Genes Dev. 2003 Feb 1;17(3):394-409. (http://www.ncbi.nlm.nih.gov/pubmed/12569130?dopt=Abstract)
  • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/7473)
  • Gene Review: Tetra-Amelia Syndrome (http://www.ncbi.nlm.nih.gov/books/NBK1276/)
  • Katoh M. Molecular cloning and characterization of human WNT3. Int J Oncol. 2001 Nov;19(5):977-82. (http://www.ncbi.nlm.nih.gov/pubmed/11604997?dopt=Abstract)
  • Liu P, Wakamiya M, Shea MJ, Albrecht U, Behringer RR, Bradley A. Requirement for Wnt3 in vertebrate axis formation. Nat Genet. 1999 Aug;22(4):361-5. (http://www.ncbi.nlm.nih.gov/pubmed/10431240?dopt=Abstract)
  • Niemann S, Zhao C, Pascu F, Stahl U, Aulepp U, Niswander L, Weber JL, Müller U. Homozygous WNT3 mutation causes tetra-amelia in a large consanguineous family. Am J Hum Genet. 2004 Mar;74(3):558-63. Epub 2004 Feb 5. (http://www.ncbi.nlm.nih.gov/pubmed/14872406?dopt=Abstract)
  • Roelink H, Wang J, Black DM, Solomon E, Nusse R. Molecular cloning and chromosomal localization to 17q21 of the human WNT3 gene. Genomics. 1993 Sep;17(3):790-2. (http://www.ncbi.nlm.nih.gov/pubmed/8244403?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: February 2008
Published: May 20, 2013