ACTN2
Sign in to saveAlso known as CMD1AA, CMH23, actinin alpha 2, MYOCOZ, MPD6
Alpha-actinin-2 is a protein which in humans is encoded by the ACTN2 gene. This gene encodes an alpha-actinin isoform that is expressed in both skeletal and cardiac muscles and functions to anchor myofibrillar actin thin filaments and titin to Z-discs.
Gene data
ACTN2- Name
- actinin alpha 2
- Type
- protein-coding
- Aliases
- CMD1AA, CMH23, CMYO8, CMYP8, MPD6, MYOCOZ
Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a muscle-specific, alpha actinin isoform that is expressed in both skeletal and cardiac muscles. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013].
via MyGene.info
Gene · Ensembl
actinin alpha 2
- Symbol
- ACTN2
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 1:236,664,141-236,764,631
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Image
- Protein ACTN2 PDB 1h8b.png
Show 5 more facts
- HomoloGene ID
- 31016
- exact match
- identifiers.org/ncbigene/88
- genomic end
- 236927931
- genomic start
- 236664141
- cytogenetic location
- 1q43
Sources (4)
via Wikidata · CC0
~2 min read
Article
6 sectionsContents
- Structure
- Function
- Clinical significance
- References
- Further reading
- External links
Alpha-actinin-2 is a protein which in humans is encoded by the ACTN2 gene. This gene encodes an alpha-actinin isoform that is expressed in both skeletal and cardiac muscles and functions to anchor myofibrillar actin thin filaments and titin to Z-discs.
==Structure== Alpha-actinin-2 is a 103.8 kDa protein composed of 894 amino acids. Each molecule is rod-shaped (35 nm in length) and it homodimerizes in an anti-parallel fashion. Each monomer has an N-terminal actin-binding region composed of two calponin homology domains, two C-terminal EF hand domains, and four tandem spectrin-like repeats form the rod domain in the central region of the molecule. The high-resolution crystal structure of human alpha-actinin 2 at 3.5 Å was recently resolved. Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of actin-binding cytoskeletal proteins, including spectrin, dystrophin, utrophin and fimbrin. Skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. Alpha-actinin 2 has been shown to interact with KCNA5, DLG1, DISC1, MYOZ1, GRIN2B, ADAM12, ACTN3, MYPN, PDLIM3, PKN, MYOT, TTN, NMDAR, SYNPO2, LDB3, and FATZ.