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The information on this page was automatically extracted from online scientific databases.

What is the official name of the JPH2 gene?

The official name of this gene is “junctophilin 2.”

JPH2 is the gene's official symbol. The JPH2 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 JPH2 gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. This gene is a member of the junctophilin gene family. Alternative splicing has been observed at this locus and two variants encoding distinct isoforms are described. [provided by RefSeq, Jul 2008]

From UniProtThis link leads to a site outside Genetics Home Reference.:

Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasma membrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a structural foundation for functional cross-talk between the cell surface and intracellular calcium release channels. JPH2 is necessary for proper intracellular Ca(2+) signaling in cardiac myocytes via its involvement in ryanodine receptor-mediated calcium ion release. Contributes to the construction of skeletal muscle triad junctions.

How are changes in the JPH2 gene related to health conditions?

Genetics Home Reference provides information about familial hypertrophic cardiomyopathy, which is associated with changes in the JPH2 gene.
UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the JPH2 gene's known or predicted involvement in human disease.

Cardiomyopathy, familial hypertrophic 17 (CMH17): A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.[1]This link leads to a site outside Genetics Home Reference. The disease is caused by mutations affecting the gene represented in this entry.

NCBI GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the JPH2 gene.
  • Familial hypertrophic cardiomyopathy 17[1]This link leads to a site outside Genetics Home Reference.
UniProt and NCBI Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.
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Where is the JPH2 gene located?

Cytogenetic Location: 20q13.12

Molecular Location on chromosome 20: base pairs 44,111,696 to 44,187,577

The JPH2 gene is located on the long (q) arm of chromosome 20 at position 13.12.

The JPH2 gene is located on the long (q) arm of chromosome 20 at position 13.12.

More precisely, the JPH2 gene is located from base pair 44,111,696 to base pair 44,187,577 on chromosome 20.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about JPH2?

You and your healthcare professional may find the following resources about JPH2 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 JPH2 gene or gene products?

  • CMH17
  • JP2
  • JP-2

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 JPH2?


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.

Published: October 20, 2014