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RBM20

RBM20

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

What is the official name of the RBM20 gene?

The official name of this gene is “RNA binding motif protein 20.”

RBM20 is the gene's official symbol. The RBM20 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 RBM20 gene?

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

This gene encodes a protein that binds RNA and regulates splicing. Mutations in this gene have been associated with familial dilated cardiomyopathy. [provided by RefSeq, Apr 2014]

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

RNA-binding protein that acts as a regulator of mRNA splicing of a subset of genes involved in cardiac development. Regulates splicing of TTN (Titin).

How are changes in the RBM20 gene related to health conditions?

Genetics Home Reference provides information about familial dilated cardiomyopathy, which is associated with changes in the RBM20 gene.
UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the RBM20 gene's known or predicted involvement in human disease.

Cardiomyopathy, dilated 1DD (CMD1DD): A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. 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 RBM20 gene.
  • Dilated cardiomyopathy 1DD
OMIM.orgThis link leads to a site outside Genetics Home Reference., a catalog designed for genetics professionals and researchers, provides the following information about the RBM20 gene and its association with health conditions.
OMIM
Number
Title

Where is the RBM20 gene located?

Cytogenetic Location: 10q25.2

Molecular Location on chromosome 10: base pairs 110,644,396 to 110,839,468

The RBM20 gene is located on the long (q) arm of chromosome 10 at position 25.2.

The RBM20 gene is located on the long (q) arm of chromosome 10 at position 25.2.

More precisely, the RBM20 gene is located from base pair 110,644,396 to base pair 110,839,468 on chromosome 10.

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

Where can I find additional information about RBM20?

You and your healthcare professional may find the following resources about RBM20 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

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 RBM20?

arrhythmia ; cardiac ; cardiomyopathy ; dilated ; dilation ; familial ; gene ; heart failure ; mRNA ; protein ; RNA ; splicing

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: November 24, 2014