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Reviewed September 2014
What is the official name of the JAK2 gene?
The official name of this gene is “Janus kinase 2.”
JAK2 is the gene's official symbol. The JAK2 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the JAK2 gene?
The JAK2 gene provides instructions for making a protein that promotes the growth and division (proliferation) of cells. This protein is part of a signaling pathway called the JAK/STAT pathway, which transmits chemical signals from outside the cell to the cell's nucleus. The JAK2 protein is especially important for controlling the production of blood cells from hematopoietic stem cells. These stem cells are located within the bone marrow and have the potential to develop into red blood cells, white blood cells, and platelets.
Does the JAK2 gene share characteristics with other genes?
The JAK2 gene belongs to a family of genes called SH2 domain containing (SH2 domain containing).
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? in the Handbook.
How are changes in the JAK2 gene related to health conditions?
Where is the JAK2 gene located?
Cytogenetic Location: 9p24
Molecular Location on chromosome 9: base pairs 4,985,244 to 5,129,947
The JAK2 gene is located on the short (p) arm of chromosome 9 at position 24.
More precisely, the JAK2 gene is located from base pair 4,985,244 to base pair 5,129,947 on chromosome 9.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about JAK2?
You and your healthcare professional may find the following resources about JAK2 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the JAK2 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding JAK2?
amino acid ; blood clotting ; bone marrow ; cancer ; cell ; clotting ; collagen ; exon ; fibrosis ; gene ; hematopoietic ; inherited ; kinase ; leukemia ; mutation ; nucleus ; oxygen ; phenylalanine ; platelets ; proliferation ; protein ; somatic mutation ; stem cells ; syndrome ; thrombosis ; tissue ; tyrosine ; valine ; white blood cells
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (6 links)
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? in the Handbook.