Reviewed April 2013
What is the official name of the WISP3 gene?
The official name of this gene is “WNT1 inducible signaling pathway protein 3.”
WISP3 is the gene's official symbol. The WISP3 gene is also known by other names, listed below.
What is the normal function of the WISP3 gene?
The WISP3 gene provides instructions for making a protein that appears to be involved in bone growth and the maintenance of cartilage, which covers and protects the ends of bones. The function of the WISP3 protein is not well understood. It is part of a family of proteins that are involved in the growth and maintenance of connective tissues, such as bone, cartilage, and blood vessels. The WISP3 protein is made in cells called chondrocytes, which produce and maintain cartilage, and is associated with the production of certain proteins that make up cartilage, but its role in their production is unclear. WISP3 may also help control signaling pathways involved in the development of cartilage and bone and may help regulate the breakdown of cartilage components.
How are changes in the WISP3 gene related to health conditions?
- progressive pseudorheumatoid dysplasia - caused by mutations in the WISP3 gene
Mutations in the WISP3 gene cause progressive pseudorheumatoid dysplasia (PPRD), which is a condition that causes stiffness and pain in the joints of the hands, hips, knees, and spine. The joint problems worsen over time, and movement in the joints becomes limited. Most of the mutations involved in this condition lead to production of an abnormally short WISP3 protein that is probably nonfunctional. Other mutations change single protein building blocks (amino acids) in the protein. Loss of WISP3 protein function likely disrupts normal cartilage maintenance and bone growth, leading to the joint problems in PPRD.
Where is the WISP3 gene located?
Cytogenetic Location: 6q21
Molecular Location on chromosome 6: base pairs 112,053,516 to 112,069,686
(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/8838))
The WISP3 gene is located on the long (q) arm of chromosome 6 at position 21.
More precisely, the WISP3 gene is located from base pair 112,053,516 to base pair 112,069,686 on chromosome 6.
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 WISP3?
You and your healthcare professional may find the following resources about WISP3 helpful.
- Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK327267)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for WISP3 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8838%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=%28%28WISP3%5BTIAB%5D%29%20OR%20%28WNT1%20inducible%20signaling%20pathway%20protein%203%5BTIAB%5D%29%29%20OR%20%28%28WNT1-inducible-signaling%20pathway%20protein%203%5BTIAB%5D%29%20OR%20%28WISP-3%5BTIAB%5D%29%29%20AND%20%28%28Genes%5BMH%5D%29%20OR%20%28Genetic%20Phenomena%5BMH%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/603400)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/WISP3ID469ch6q22.html)
- HGNC Gene Family: CYR61/CTGF/NOV matricellular proteins (http://www.genenames.org/cgi-bin/genefamilies/set/1046)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=12771)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/8838)
What other names do people use for the WISP3 gene or gene products?
- CCN family member 6
- WNT1-inducible-signaling pathway protein 3
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 WISP3?
You may find definitions for these and many other terms in the Genetics Home Reference
- Baker N, Sharpe P, Culley K, Otero M, Bevan D, Newham P, Barker W, Clements KM, Langham CJ, Goldring MB, Gavrilović J. Dual regulation of metalloproteinase expression in chondrocytes by Wnt-1-inducible signaling pathway protein 3/CCN6. Arthritis Rheum. 2012 Jul;64(7):2289-99. doi: 10.1002/art.34411. (http://www.ncbi.nlm.nih.gov/pubmed/22294415?dopt=Abstract)
- Davis L, Chen Y, Sen M. WISP-3 functions as a ligand and promotes superoxide dismutase activity. Biochem Biophys Res Commun. 2006 Mar 31;342(1):259-65. Epub 2006 Feb 3. (http://www.ncbi.nlm.nih.gov/pubmed/16480948?dopt=Abstract)
- Nakamura Y, Weidinger G, Liang JO, Aquilina-Beck A, Tamai K, Moon RT, Warman ML. The CCN family member Wisp3, mutant in progressive pseudorheumatoid dysplasia, modulates BMP and Wnt signaling. J Clin Invest. 2007 Oct;117(10):3075-86. (http://www.ncbi.nlm.nih.gov/pubmed/17823661?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/8838)
- Sen M, Cheng YH, Goldring MB, Lotz MK, Carson DA. WISP3-dependent regulation of type II collagen and aggrecan production in chondrocytes. Arthritis Rheum. 2004 Feb;50(2):488-97. (http://www.ncbi.nlm.nih.gov/pubmed/14872491?dopt=Abstract)
- OMIM: WNT1-INDUCIBLE SIGNALING PATHWAY PROTEIN 3 (http://omim.org/entry/603400)
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
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.