Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

PTP gene family

Reviewed September 2011

What are the PTP genes?

Members of the PTP (protein tyrosine phosphatases) family help remove a phosphate group, a cluster of one phosphorus and three oxygen atoms, from other proteins. Specifically, these enzymes target an amino acid called tyrosine, which is one of the building blocks used to make proteins. Removal of a phosphate group from tyrosines modifies the activity of a protein. Based on the action of removing phosphate groups, these proteins are called phosphatases.

Through their phosphatase function, PTP proteins play a role in regulating a process called signal transduction. In signal transduction, the protein relays signals from outside the cell to the cell nucleus. These signals instruct the cell to grow and divide or to mature and take on specialized functions.

When mutated, some PTP proteins are associated with various types of cancers, such as colorectal, lung, breast, and gastric cancers, and some leukemias. The mutations associated with cancers are somatic mutations, meaning they are not inherited and are not passed on to the next generation. Two examples of PTP genes that normally help regulate cell growth and division, but when mutated can lead to various cancers, are the PTEN and PTPN11 genes.

The PTP gene family is sometimes referred to as a superfamily, meaning that genes belonging to the superfamily can be further categorized into smaller subfamilies. The PTP superfamily has four such subfamilies categorized according to the function and structure of the proteins the genes produce.

Which genes are included in the PTP gene family?

The HUGO Gene Nomenclature Committee (HGNC) provides a list of genes in the PTP family (http://www.genenames.org/genefamily/ptp.php).

Genetics Home Reference summarizes the normal function and health implications of these members of the PTP gene family: EPM2A, EYA1, EYA4, MTM1, MTMR2, PTEN, PTPN11, PTPN22, and SBF2.

What conditions are related to genes in the PTP gene family?

Genetics Home Reference includes these conditions related to genes in the PTP gene family:

  • autoimmune Addison disease
  • Bannayan-Riley-Ruvalcaba syndrome
  • branchiootorenal syndrome
  • Charcot-Marie-Tooth disease
  • Cowden syndrome
  • familial dilated cardiomyopathy
  • Graves disease
  • idiopathic inflammatory myopathy
  • juvenile idiopathic arthritis
  • Lafora progressive myoclonus epilepsy
  • multiple lentigines syndrome
  • nonsyndromic deafness
  • Noonan syndrome
  • rheumatoid arthritis
  • systemic lupus erythematosus
  • systemic scleroderma
  • type 1 diabetes
  • vitiligo
  • X-linked myotubular myopathy

Where can I find additional information about the PTP gene family?

You may find the following resources about the PTP gene family helpful.

  • Basic Neurochemistry (sixth edition, 1999): Protein Tyrosine Phosphatases (http://www.ncbi.nlm.nih.gov/books/NBK28097/) (U.S. National Library of Medicine)
  • Basic Neurochemistry (sixth edition, 1999): Tyrosine Phosphorylation in the Nervous System (http://www.ncbi.nlm.nih.gov/books/NBK28192/) (U.S. National Library of Medicine)
  • Molecular Biology of the Cell (fourth edition, 2002): Some Protein Tyrosine Phosphatases May Act as Cell-Surface Receptors (http://www.ncbi.nlm.nih.gov/books/NBK26822/) (U.S. National Library of Medicine)

What glossary definitions help with understanding the PTP gene family?

amino acid ; Asp ; cell ; cell nucleus ; colorectal ; epilepsy ; gastric ; gene ; inherited ; lymphoid ; myoclonus ; nucleus ; oxygen ; phosphatase ; phosphate ; phosphorus ; protein ; receptor ; signal transduction ; specificity ; transduction ; transmembrane ; tyrosine

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

References

These sources were used to develop the Genetics Home Reference summary for the PTP gene family.

  • Andersen JN, Jansen PG, Echwald SM, Mortensen OH, Fukada T, Del Vecchio R, Tonks NK, Møller NP. A genomic perspective on protein tyrosine phosphatases: gene structure, pseudogenes, and genetic disease linkage. FASEB J. 2004 Jan;18(1):8-30. Review. (http://www.ncbi.nlm.nih.gov/pubmed/14718383?dopt=Abstract)
  • Wälchli S, Colinge J, Hooft van Huijsduijnen R. MetaBlasts: tracing protein tyrosine phosphatase gene family roots from Man to Drosophila melanogaster and Caenorhabditis elegans genomes. Gene. 2000 Aug 8;253(2):137-43. (http://www.ncbi.nlm.nih.gov/pubmed/10940550?dopt=Abstract)
  • Wang Z, Shen D, Parsons DW, Bardelli A, Sager J, Szabo S, Ptak J, Silliman N, Peters BA, van der Heijden MS, Parmigiani G, Yan H, Wang TL, Riggins G, Powell SM, Willson JK, Markowitz S, Kinzler KW, Vogelstein B, Velculescu VE. Mutational analysis of the tyrosine phosphatome in colorectal cancers. Science. 2004 May 21;304(5674):1164-6. (http://www.ncbi.nlm.nih.gov/pubmed/15155950?dopt=Abstract)
  • Tonks NK. Protein tyrosine phosphatases: from genes, to function, to disease. Nat Rev Mol Cell Biol. 2006 Nov;7(11):833-46. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17057753?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: September 2011
Published: October 20, 2014