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MGP000043

UniProt Annotations

Entry Information
Gene Nameactinin, alpha 2
Protein EntryACTN2_HUMAN
UniProt IDP35609
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P35609-1; Sequence=Displayed; Name=2; IsoId=P35609-2; Sequence=VSP_054923; Note=No experimental confirmation available.;
DiseaseCardiomyopathy, dilated 1AA (CMD1AA) [MIM:612158]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269|PubMed:14567970}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionF-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein.
InteractionSelf; NbExp=8; 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; P22460:KCNA5; NbExp=6; IntAct=EBI-77797, EBI-6426121; P54296:MYOM2; NbExp=2; IntAct=EBI-77797, EBI-5357134; Q8WZ42:TTN; NbExp=16; IntAct=EBI-77797, EBI-681210;
PtmUbiquitinated by FBXL22, leading to proteasomal degradation. {ECO:0000269|PubMed:22972877}.
SimilarityBelongs to the alpha-actinin family. {ECO:0000305}.
SimilarityContains 1 actin-binding domain. {ECO:0000305}.
SimilarityContains 2 CH (calponin-homology) domains. {ECO:0000255|PROSITE-ProRule:PRU00044}.
SimilarityContains 2 EF-hand domains. {ECO:0000255|PROSITE- ProRule:PRU00448}.
SimilarityContains 4 spectrin repeats. {ECO:0000305}.
Subcellular LocationCytoplasm, myofibril, sarcomere, Z line {ECO:0000269|PubMed:11171996, ECO:0000269|PubMed:19932097}. Note=Colocalizes with MYOZ1 and FLNC at the Z-lines of skeletal muscle.
SubunitHomodimer; 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). Interacts with PARVB. {ECO:0000269|PubMed:10427098, ECO:0000269|PubMed:10984498, ECO:0000269|PubMed:11114196, ECO:0000269|PubMed:11171996, ECO:0000269|PubMed:11842093, ECO:0000269|PubMed:15159419, ECO:0000269|PubMed:17046827, ECO:0000269|PubMed:19932097}.
Tissue SpecificityExpressed in both skeletal and cardiac muscle.
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