Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Actn2. (This text reflects annotations as of Wednesday, January 23, 2013.)

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] 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. [provided by RefSeq, Jul 2008]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Actn2
  • participates in the following biological processes:
    • muscle contraction ^[12]
  • performs the following molecular functions:
    • actin filament binding ^[10]
    • cytoskeletal protein binding ^[14]
    • ligand-dependent nuclear receptor transcription coactivator activity ^[8]
    • thyroid hormone receptor coactivator activity ^[8]
  • is located in the following cellular components:
    • sarcomere ^[9]
    • Z disc ^{[1, 2, 4, 6, 7, 11, 13]}
• The gene product of Actn2 has been shown to bind to the gene products of Ldb3, Myoz1, Myoz2, Ncoa2. ^{[2, 3, 4, 5, 8, 14]}

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Actn2:
  • participates in the following biological processes:
    • focal adhesion assembly
    • microspike assembly
    • negative regulation of potassium ion transmembrane transporter activity
    • negative regulation of potassium ion transport
    • negative regulation of protein localization to cell surface
    • positive regulation of potassium ion transmembrane transporter activity
    • positive regulation of potassium ion transport
    • protein homotetramerization
    • regulation of membrane potential
  • performs the following molecular functions:
    • cytoskeletal protein binding
    • FATZ binding
    • identical protein binding
    • ion channel binding
    • protein dimerization activity
    • titin binding
    • titin Z domain binding
  • is located in the following cellular components:
    • cortical actin cytoskeleton
    • filopodium
    • focal adhesion
    • Z disc

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Summary text based on GO annotations supported by structural data

• Actn2 encodes a protein or proteins that contain the following InterPro domains: Actinin-type, actin-binding, conserved site, Calcium-binding EF-hand, Calponin homology domain, EF-HAND 2, EF-hand, Ca insensitive, EF-hand-like domain, Spectrin repeat, Spectrin/alpha-actinin, indicating that the gene product:
  • performs the following molecular functions:
    • actin binding
    • calcium ion binding

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Actn2 indicates that it:
  • performs the following molecular functions:
    • actin binding
    • metal ion binding
  • is located in the following cellular components:
    • cytoplasm

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References

1. Ajima R et al. (2008) Deficiency of Myo18B in mice results in embryonic lethality with cardiac myofibrillar aberrations. Genes Cells, 13:987-99. (PubMed:18761673)
2. Beqqali A et al. (2010) CHAP is a newly identified Z-disc protein essential for heart and skeletal muscle function. J Cell Sci, 123:1141-50. (PubMed:20215401)
3. Collin GB et al. (2012) The Alstrom syndrome protein, ALMS1, interacts with alpha-actinin and components of the endosome recycling pathway. PLoS One, 7:e37925. (PubMed:22693585)
4. Durham JT et al. (2006) Myospryn is a direct transcriptional target for MEF2A that encodes a striated muscle, alpha-actinin-interacting, costamere-localized protein. J Biol Chem, 281:6841-9. (PubMed:16407236)
5. Frey N et al. (2000) Calsarcins, a novel family of sarcomeric calcineurin-binding proteins Proc Natl Acad Sci U S A, 97:14632-7. (PubMed:11114196)
6. Gokhin DS et al. (2010) Tropomodulin isoforms regulate thin filament pointed-end capping and skeletal muscle physiology. J Cell Biol, 189:95-109. (PubMed:20368620)
7. Heineke J et al. (2005) Attenuation of cardiac remodeling after myocardial infarction by muscle LIM protein-calcineurin signaling at the sarcomeric Z-disc. Proc Natl Acad Sci U S A, 102:1655-60. (PubMed:15665106)
8. Huang SM et al. (2004) The enhancement of nuclear receptor transcriptional activation by a mouse actin-binding protein, alpha actinin 2. J Mol Endocrinol, 32:481-96. (PubMed:15072553)
9. Itoh S et al. (2006) Role of p90 ribosomal S6 kinase-mediated prorenin-converting enzyme in ischemic and diabetic myocardium. Circulation, 113:1787-98. (PubMed:16585392)
10. Keicher C et al. (2004) Phosphorylation of mouse LASP-1 on threonine 156 by cAMP- and cGMP-dependent protein kinase. Biochem Biophys Res Commun, 324:308-16. (PubMed:15465019)
11. Lu L et al. (2007) Molecular coupling of a Ca2+-activated K+ channel to L-type Ca2+ channels via alpha-actinin2. Circ Res, 100:112-20. (PubMed:17110593)
12. Schiaffino S et al. (1996) Molecular diversity of myofibrillar proteins: gene regulation and functional significance. Physiol Rev, 76:371-423. (PubMed:8618961)
13. Steiner-Champliaud MF et al. (2010) BPAG1 isoform-b: complex distribution pattern in striated and heart muscle and association with plectin and alpha-actinin. Exp Cell Res, 316:297-313. (PubMed:19932097)
14. Zhou Q et al. (1999) Cypher, a striated muscle-restricted PDZ and LIM domain-containing protein, binds to alpha-actinin-2 and protein kinase C. J Biol Chem, 274:19807-13. (PubMed:10391924)

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Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

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