Description: Homo sapiens actinin, alpha 2 (ACTN2), transcript variant 1, mRNA. RefSeq Summary (NM_001103): 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]. Transcript (Including UTRs) Position: hg19 chr1:236,849,770-236,927,558 Size: 77,789 Total Exon Count: 21 Strand: + Coding Region Position: hg19 chr1:236,849,974-236,925,919 Size: 75,946 Coding Exon Count: 21
ID:ACTN2_HUMAN DESCRIPTION: RecName: Full=Alpha-actinin-2; AltName: Full=Alpha-actinin skeletal muscle isoform 2; AltName: Full=F-actin cross-linking protein; FUNCTION: F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein. SUBUNIT: Homodimer; antiparallel. Also forms heterodimers with ACTN3. Interacts with ADAM12, MYOZ1, MYOZ2 and MYOZ3. Interacts via its C-terminal region with the LDB3 PDZ domain. Interacts with XIRP2. Interacts with DST isoform 1 (via N-terminus). INTERACTION: Self; NbExp=2; IntAct=EBI-77797, EBI-77797; Q61824:Adam12 (xeno); NbExp=3; IntAct=EBI-77797, EBI-77785; P03950:ANG; NbExp=4; IntAct=EBI-77797, EBI-525291; Q9UKG1:APPL1; NbExp=2; IntAct=EBI-77797, EBI-741243; Q9NRI5:DISC1; NbExp=3; IntAct=EBI-77797, EBI-529989; O75923:DYSF; NbExp=2; IntAct=EBI-77797, EBI-2799016; P54296:MYOM2; NbExp=2; IntAct=EBI-77797, EBI-5357134; Q8WZ42:TTN; NbExp=7; IntAct=EBI-77797, EBI-681210; SUBCELLULAR LOCATION: Cytoplasm, myofibril, sarcomere, Z line. Note=Colocalizes with MYOZ1 and FLNC at the Z-lines of skeletal muscle. TISSUE SPECIFICITY: Expressed in both skeletal and cardiac muscle. DISEASE: Defects in ACTN2 are the cause of cardiomyopathy dilated type 1AA (CMD1AA) [MIM:612158]. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. SIMILARITY: Belongs to the alpha-actinin family. SIMILARITY: Contains 1 actin-binding domain. SIMILARITY: Contains 2 CH (calponin-homology) domains. SIMILARITY: Contains 2 EF-hand domains. SIMILARITY: Contains 4 spectrin repeats. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ACTN2";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P35609
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
