ACTN2

Gene Symbol ACTN2
Entrez Gene 88
Alt Symbol CMD1AA
Species Human
Gene Type protein-coding
Description actinin, alpha 2
Other Description F-actin cross-linking protein|alpha-actinin skeletal muscle|alpha-actinin-2
Swissprots B1ANE4 P35609 Q86TF4 B2RCS5 Q86TI8
Accessions AAA51584 CAB61269 EAW70064 EAW70065 P35609 AB209521 BAD92758 AK294906 BAH11921 AK297469 BAH12587 AK297618 BAH12632 AK297628 BAH12634 AK297886 BAH12687 AK315250 BAG37672 BC047901 AAH47901 BC051770 AAH51770 BX103017 CB153006 DC378038 M86406 AAA51583 NM_001103 NP_001094 NM_001278343 NP_001265272 NM_001278344 NP_001265273
Function F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein.
Subcellular Location Cytoplasm, 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.
Tissue Specificity Expressed in both skeletal and cardiac muscle.
Top Pathways Systemic lupus erythematosus, Adherens junction, Arrhythmogenic right ventricular cardiomyopathy (ARVC), Leukocyte transendothelial migration, Amoebiasis