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ACTN2

ACTN2

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

What is the official name of the ACTN2 gene?

The official name of this gene is “actinin, alpha 2.”

ACTN2 is the gene's official symbol. The ACTN2 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 ACTN2 gene?

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

Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a muscle-specific, alpha actinin isoform that is expressed in both skeletal and cardiac muscles. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013]

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

F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein.

How are changes in the ACTN2 gene related to health conditions?

Genetics Home Reference provides information about these conditions associated with changes in the ACTN2 gene:
UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the ACTN2 gene's known or predicted involvement in human disease.

Cardiomyopathy, dilated 1AA (CMD1AA): 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 ACTN2 gene.
  • Dilated cardiomyopathy 1AA
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 ACTN2 gene and its association with health conditions.
OMIM
Number
Title

Where is the ACTN2 gene located?

Cytogenetic Location: 1q42-q43

Molecular Location on chromosome 1: base pairs 236,686,453 to 236,764,630

The ACTN2 gene is located on the long (q) arm of chromosome 1 between positions 42 and 43.

The ACTN2 gene is located on the long (q) arm of chromosome 1 between positions 42 and 43.

More precisely, the ACTN2 gene is located from base pair 236,686,453 to base pair 236,764,630 on chromosome 1.

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

Where can I find additional information about ACTN2?

You and your healthcare professional may find the following resources about ACTN2 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 ACTN2 gene or gene products?

  • CMD1AA

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 ACTN2?

actin ; arrhythmia ; cardiac ; cardiomyopathy ; cell ; dilated ; dilation ; expressed ; gene ; heart failure ; intracellular ; isoforms ; protein ; transcript

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: January 27, 2015