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WNT3 gene

Wnt family member 3

Normal Function

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 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.

Health Conditions Related to Genetic Changes

Tetra-amelia syndrome

A mutation in the WNT3 gene has been shown to cause tetra-amelia syndrome. This condition is very rare and characterized by the absence of all four limbs. The WNT3 gene variant causes a form of this condition known as tetra-amelia syndrome type 1. Because children with this condition have such serious medical problems, most are stillborn or die shortly after birth. 

The WNT3 gene variant that causes tetra-amelia syndrome type 1, 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 variant is written as Gln83Ter or Q83X.

Researchers believe that the Gln83Ter variant results in the production of an abnormally short, nonfunctional version of the WNT3 protein. Loss of WNT3 protein activity disrupts normal limb formation before birth and leads to the other serious birth defects associated with tetra-amelia syndrome type 1.

More About This Health Condition

Other Names for This Gene

  • INT4
  • Oncogene INT4
  • Proto-oncogene protein Wnt-3
  • wingless-type MMTV integration site family member 3
  • wingless-type MMTV integration site family, member 3
  • WNT-3 proto-oncogene protein

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases


  • 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. doi: 10.1016/j.ydbio.2007.09.030. Epub 2007 Sep 26. Citation on PubMed
  • 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. doi: 10.1101/gad.1044903. Citation on PubMed or Free article on PubMed Central
  • Katoh M. Molecular cloning and characterization of human WNT3. Int J Oncol. 2001 Nov;19(5):977-82. doi: 10.3892/ijo.19.5.977. Citation on PubMed
  • 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. doi: 10.1038/11932. Citation on PubMed
  • Niemann S, Zhao C, Pascu F, Stahl U, Aulepp U, Niswander L, Weber JL, Muller U. Homozygous WNT3 mutation causes tetra-amelia in a large consanguineous family. Am J Hum Genet. 2004 Mar;74(3):558-63. doi: 10.1086/382196. Epub 2004 Feb 5. Citation on PubMed or Free article on PubMed Central
  • 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. doi: 10.1006/geno.1993.1412. Citation on PubMed

The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.