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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