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alpha-actinin-2; alpha-actinin skeletal muscle isoform 2; F-actin cross-linking protein (ACTN2)
Function:
- F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures
- ACTN2 is a bundling protein
- interacts with ADAM12, MYOZ1, MYOZ2 & MYOZ3
- interacts via its C-terminal region with the LDB3 PDZ domain
- interacts with XIRP2
Structure:
- homodimer; antiparallel
- also forms heterodimers with ACTN3
- belongs to the alpha-actinin family
- contains 1 actin-binding domain
- contains 2 CH (calponin-homology) domains
- contains 2 EF-hand domains
- contains 4 spectrin repeats
Compartment:
- cytoplasm, myofibril, sarcomere, Z-disk
- colocalizes with MYOZ1 & FLNC at the Z-lines of skeletal muscle
Expression: expressed in both skeletal & cardiac muscle
Pathology:
- defects in ACTN2 are the cause of dilated cardiomyopathy type 1AA
General
alpha-actinin (ACTN)
Properties
CONFIGURATION: dimer
SIZE: entity length = 894 aa
MW = 104 kD
COMPARTMENT: cytoplasm
MOTIF: actin-binding site
SITE: 1-254
FOR-BINDING-OF: F-actin
MOTIF: calponin homology domain
NAME: calponin homology domain
SITE: 38-142
calponin homology domain
NAME: calponin homology domain
SITE: 151-254
spectrin repeat {281-391}
spectrin repeat {401-506}
spectrin repeat {516-627}
spectrin repeat {637-740}
EF hand
SITE: 753-788
MOTIF: Ca+2-binding site
SITE: 766-777
EF hand
SITE: 789-824
MOTIF: Ca+2-binding site
SITE: 802-813
Database Correlations
OMIM correlations
MORBIDMAP 102573
UniProt P35609
PFAM correlations
Entrez Gene 88
Kegg hsa:88
References
- UniProt :accession P35609
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=ACTN2
- Entrez Gene :accession 88