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 |