InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ACTN2

Summary

InnateDB Protein

IDBP-107636.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ACTN2

Protein Name

actinin, alpha 2

Synonyms

CMD1AA;

Species

Homo sapiens

Ensembl Protein

ENSP00000355537

InnateDB Gene

IDBG-107634 (ACTN2)

Protein Structure

UniProt Annotation

Function

F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein.

Subcellular Localization

Cytoplasm, myofibril, sarcomere, Z line {ECO:0000269PubMed:11171996, ECO:0000269PubMed:19932097}. Note=Colocalizes with MYOZ1 and FLNC at the Z-lines of skeletal muscle.

Disease Associations

Cardiomyopathy, dilated 1AA (CMD1AA) [MIM:612158]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269PubMed:14567970}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in both skeletal and cardiac muscle.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 72 experimentally validated interaction(s) in this database.
They are also associated with 8 interaction(s) predicted by orthology.

Experimentally validated
Total	72 [view]
Protein-Protein	72 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	8 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005178	integrin binding
GO:0005509	calcium ion binding
GO:0005515	protein binding
GO:0008092	cytoskeletal protein binding
GO:0008307	structural constituent of muscle
GO:0031432	titin binding
GO:0042802	identical protein binding
GO:0044325	ion channel binding
GO:0046983	protein dimerization activity
GO:0051373	FATZ binding
GO:0070080	titin Z domain binding

Biological Process

GO:0002576	platelet degranulation
GO:0007155	cell adhesion
GO:0007268	synaptic transmission
GO:0007596	blood coagulation
GO:0030035	microspike assembly
GO:0030049	muscle filament sliding
GO:0030168	platelet activation
GO:0042391	regulation of membrane potential
GO:0042981	regulation of apoptotic process
GO:0043267	negative regulation of potassium ion transport
GO:0043268	positive regulation of potassium ion transport
GO:0048041	focal adhesion assembly
GO:0051289	protein homotetramerization
GO:1901017	negative regulation of potassium ion transmembrane transporter activity
GO:1901018	positive regulation of potassium ion transmembrane transporter activity
GO:2000009	negative regulation of protein localization to cell surface

Cellular Component

GO:0005576	extracellular region
GO:0005829	cytosol
GO:0005856	cytoskeleton
GO:0005884	actin filament
GO:0005925	focal adhesion
GO:0030018	Z disc
GO:0030175	filopodium
GO:0031093	platelet alpha granule lumen
GO:0031143	pseudopodium
GO:0043197	dendritic spine
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR001715 Calponin homology domain
IPR002017 Spectrin repeat
IPR002048 EF-hand domain
IPR014837 EF-hand, Ca insensitive
IPR018159 Spectrin/alpha-actinin
IPR022613 Calmodulin-regulated spectrin-associated protein, CH domain

PFAM