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CALR3

CALR3

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

What is the official name of the CALR3 gene?

The official name of this gene is “calreticulin 3.”

CALR3 is the gene's official symbol. The CALR3 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 CALR3 gene?

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

The protein encoded by this gene belongs to the calreticulin family, members of which are calcium-binding chaperones localized mainly in the endoplasmic reticulum. This protein is also localized to the endoplasmic reticulum lumen, however, its capacity for calcium-binding may be absent or much lower than other family members. This gene is specifically expressed in the testis, and may be required for sperm fertility. Mutation in this gene has been associated with familial hypertrophic cardiomyopathy. [provided by RefSeq, Dec 2011]

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

During spermatogenesis, may act as a lectin-independent chaperone for specific client proteins such as ADAM3. Required for sperm fertility (By similarity). CALR3 capacity for calcium-binding may be absent or much lower than that of CALR.

How are changes in the CALR3 gene related to health conditions?

Genetics Home Reference provides information about familial hypertrophic cardiomyopathy, which is associated with changes in the CALR3 gene.
UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the CALR3 gene's known or predicted involvement in human disease.

Cardiomyopathy, familial hypertrophic 19 (CMH19): 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 CALR3 gene.
  • Familial hypertrophic cardiomyopathy 19[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.
 Article
Number
Main Topic
[1]

Where is the CALR3 gene located?

Cytogenetic Location: 19p13.11

Molecular Location on chromosome 19: base pairs 16,479,056 to 16,496,191

The CALR3 gene is located on the short (p) arm of chromosome 19 at position 13.11.

The CALR3 gene is located on the short (p) arm of chromosome 19 at position 13.11.

More precisely, the CALR3 gene is located from base pair 16,479,056 to base pair 16,496,191 on chromosome 19.

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

Where can I find additional information about CALR3?

You and your healthcare professional may find the following resources about CALR3 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 CALR3 gene or gene products?

  • CMH19
  • CRT2
  • CT93

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 CALR3?

benign ; calcium ; cardiac ; cardiomyopathy ; chaperone ; dyspnea ; endoplasmic reticulum ; expressed ; familial ; fertility ; gene ; hereditary ; hypertrophic ; hypertrophy ; intrafamilial variability ; mutation ; palpitations ; protein ; septum ; sperm ; spermatogenesis ; syncope ; testis

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

 

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