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
- Position
- 236,664,141–236,764,631 (+)
- Aliases
- CMD1AA, CMH23, CMYO8, CMYP8, MPD6, MYOCOZ
- Ensembl
- ENSG00000077522
- RefSeq RNA
- NM_001103.4, NM_001278343.2, NR_184402.1
- RefSeq protein
- NP_001094.1, NP_001265272.1
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].
Gene Ontology
Biological process
Molecular function
Pathways
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
~2 min read
Encyclopedic overview
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.
Excerpted from Wikipedia’s “ACTN2” article, available under the CC BY-SA 4.0 licence.