Homo sapiens Gene: ACTN2
Summary
InnateDB Gene IDBG-107634.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ACTN2
Gene Name actinin, alpha 2
Synonyms CMD1AA;
Species Homo sapiens
Ensembl Gene ENSG00000077522
Encoded Proteins
actinin, alpha 2
actinin, alpha 2
actinin, alpha 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
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 Information
Type Protein coding
Genomic Location Chromosome 1:236686454-236764631
Strand Forward strand
Band q43
Transcripts
ENST00000366578 ENSP00000355537
ENST00000492634
ENST00000494762
ENST00000492101
ENST00000461367
ENST00000542672 ENSP00000443495
ENST00000546208 ENSP00000438384
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:0030274 LIM domain binding
GO:0030374 ligand-dependent nuclear receptor transcription coactivator activity
GO:0030375 thyroid hormone receptor coactivator activity
GO:0031432 titin binding
GO:0042802 identical protein binding
GO:0044325 ion channel binding
GO:0046983 protein dimerization activity
GO:0051015 actin filament binding
GO:0051373 FATZ binding
GO:0070080 titin Z domain binding
Biological Process
GO:0002576 platelet degranulation
GO:0006936 muscle contraction
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
GO:2000273 positive regulation of receptor activity
GO:2001141 regulation of RNA biosynthetic process
Cellular Component
GO:0005576 extracellular region
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005884 actin filament
GO:0005925 focal adhesion
GO:0030017 sarcomere
GO:0030018 Z disc
GO:0030175 filopodium
GO:0030864 cortical actin cytoskeleton
GO:0031093 platelet alpha granule lumen
GO:0031143 pseudopodium
GO:0043197 dendritic spine
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
REACTOME
Cell-Cell communication pathway
Nephrin interactions pathway
Neuronal System pathway
Unblocking of NMDA receptor, glutamate binding and activation pathway
Platelet degranulation pathway
Platelet activation, signaling and aggregation pathway
Post NMDA receptor activation events pathway
Ras activation uopn Ca2+ infux through NMDA receptor pathway
Activation of NMDA receptor upon glutamate binding and postsynaptic events pathway
CREB phosphorylation through the activation of Ras pathway
Response to elevated platelet cytosolic Ca2+ pathway
Transmission across Chemical Synapses pathway
Muscle contraction pathway
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell pathway
CREB phosphorylation through the activation of CaMKII pathway
Striated Muscle Contraction pathway
Hemostasis pathway
KEGG
Focal adhesion pathway
Adherens junction pathway
Tight junction pathway
Leukocyte transendothelial migration pathway
Regulation of actin cytoskeleton pathway
Amoebiasis pathway
Systemic lupus erythematosus pathway
Arrhythmogenic right ventricular cardiomyopathy (ARVC) pathway
INOH
PID BIOCARTA
Ucalpain and friends in cell spread [Biocarta view]
Integrin signaling pathway [Biocarta view]
Erk and pi-3 kinase are necessary for collagen binding in corneal epithelia [Biocarta view]
PID NCI
Cross-References
SwissProt P35609
TrEMBL B7Z4P8
UniProt Splice Variant
Entrez Gene 88
UniGene Hs.498178 Hs.601529 Hs.607367
RefSeq NM_001103 NM_001278343 NM_001278344
HUGO HGNC:164
OMIM 102573
CCDS CCDS1613 CCDS60455 CCDS73053
HPRD 00019
IMGT
EMBL AJ249756 AJ249757 AJ249758 AJ249759 AJ249760 AJ249761 AJ249762 AJ249763 AJ249764 AJ249765 AJ249766 AJ249767 AJ249768 AJ249769 AJ249770 AJ249771 AJ249772 AJ249773 AJ249774 AJ249775 AJ249776 AK297628 AK315250 AL359185 AL359921 BC047901 BC051770 CH471098 M86406 M86804
GenPept AAA51583 AAA51584 AAH47901 AAH51770 BAG37672 BAH12634 CAB61269 CAH73201 CAI13778 EAW70064 EAW70065
RNA Seq Atlas 88