The ACTN2 gene homepage

General information
Gene symbol ACTN2
Gene name actinin, alpha 2
Chromosome 1
Chromosomal band q42-q43
Imprinted Unknown
Genomic reference NG_009081.1
Transcript reference NM_001103.2, NM_001103.3, NM_001278343.1, NM_001278344.1, XM_005273339.1
Associated with diseases WD
Citation reference(s) Pan M et al, 2011
Zhang T et al, 2010
Refseq URL Coding DNA reference sequence
Curators (0) -
Total number of public variants reported 78
Unique public DNA variants reported 72
Individuals with public variants 0
Hidden variants -
Notes 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. [provided by RefSeq, Jul 2008]
Also known as: CMD1AA
Date created April 14, 2013
Date last updated November 13, 2018
Version ACTN2:181113

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL http://www.genomed.org/lovd3/genes/ACTN2
HGNC 164
Entrez Gene 88
PubMed articles ACTN2
OMIM - Gene 102573
OMIM - Diseases WD (wilson disease)
HGMD ACTN2
GeneCards ACTN2
GeneTests ACTN2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000024 1 actinin, alpha 2 (expired, new version available) NM_001103.2 - 78
00000019 1 transcript variant 1 NM_001103.3 NP_001094.1 -
00000020 1 transcript variant 2 NM_001278343.1 NP_001265272.1 -
00000021 1 transcript variant 3 NM_001278344.1 NP_001265273.1 -
00000022 1 transcript variant X1 XM_005273339.1 XP_005273396.1 -


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2013-2024. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), curator(s), or any of their employees or agents for the effects of any product, process, or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.