Database for Annotation, Visualization and Integrated Discovery 2.1
National Institute of Allergy and Infectious Disease
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actinin alpha 2(ACTN2) actinin alpha 2(ACTN2) Related Genes Homo sapiens
CYTOBAND 1q42-q43,
GENERIF_SUMMARY Spectrin-like repeats from dystrophin and alpha-actinin-2 are not functionally interchangeable., Association of Ca2+-activated K+ channel with alpha-actinin2 localizes channel to entry of external Ca(2+) source, which regulates channel function., actinin-2 participate in sequestering parafibromin in the cytoplasmic compartment., ACTN2 expression is affected by the content of alpha-actinin-3., demonstrate that proper membrane localization of a small-conductance Ca(2+)-activated K(+) channel (SK2 or K(Ca)2.2) is dependent on its interacting protein, alpha-actinin2, a major F-actin crosslinking protein., BPAG1-b was detectable in vitro and in vivo as a high molecular mass protein in striated and heart muscle cells, co-localizing with alpha-actinin-2 and partially with the cytolinker plectin as well as with the intermediate filament protein desmin., This is the first genome-wide linkage analysis that shows mutations in ACTN2 cause HCM, This study generated the genomic sequences of K88-positive and F18-positive porcine enteroteoxigenic E. coli (ETEC) strains and examined the phylogenetic distribution of clinical porcine ETEC strains and their plasmid-associated genetic content., data provide functional evidence that the primary sequences of alpha-actinin-2 and alpha-actinin-3 evolved differences to optimize their functions, Findigs show that the F-actin-binding protein alpha-actinin-2 targets CaMKIIalpha to F-actin in cells by binding to the CaMKII regulatory domain., study strengthens the hypothesis that ACTN2 influences caries risk., The novel heterozygous missense sequence variant ACTN2 cosegregated with a complex cardiomyopathic trait, characterized by the interplay of midapical, nonobstructive HCM, early onset of AF and AV block, as well as regional LV noncompaction., Clinical evaluation of an Australian family revealed diverse cardiac pathologies in four affected members and genetic testing of the exome identified a pathogenic ACTN2 heterozygous variant (Ala119Thr) that co-segregated with disease., Study reports a complete high-resolution structure of the 200 kDa alpha-actinin-2 dimer from striated muscle and explore its functional implications on the biochemical and cellular level.,
OMIM_DISEASE Cardiomyopathy, dilated, 1AA, with or without LVNC, Cardiomyopathy, hypertrophic, 23, with or without LVNC,
SP_COMMENT 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., function:F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein., 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., subcellular location:Colocalizes with MYOZ1 and FLNC at the Z-lines of skeletal muscle., 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., tissue specificity:Expressed in both skeletal and cardiac muscle.,