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ACTN2 actinin, alpha 2 [Homo sapiens (human)]


Clone ID RefSeq Accession Definition Vector Stock Status *Turnaround time Price Order
OHu22647 NM_001103 Homo sapiens actinin, alpha 2 (ACTN2), transcript variant 1, mRNA. pcDNA3.1+-DYK In-stock 5-7 $99.00
OHu22707 NM_001278344 Homo sapiens actinin, alpha 2 (ACTN2), transcript variant 3, mRNA. pcDNA3.1+-DYK On-demand 12-14 $279.00
OHu23009 NM_001278343 Homo sapiens actinin, alpha 2 (ACTN2), transcript variant 2, mRNA. pcDNA3.1+-DYK On-demand 12-14 $279.00
OHu22647C NM_001103 Homo sapiens actinin, alpha 2 (ACTN2), transcript variant 1, mRNA. Customized vector In-stock 5-7 $149.00
OHu22707C NM_001278344 Homo sapiens actinin, alpha 2 (ACTN2), transcript variant 3, mRNA. Customized vector On-demand 12-14 $329.00
OHu23009C NM_001278343 Homo sapiens actinin, alpha 2 (ACTN2), transcript variant 2, mRNA. Customized vector On-demand 12-14 $329.00

*Business Day

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Gene Symbol ACTN2
Entrez Gene ID 88
Full Name actinin, alpha 2
Synonyms CMD1AA
General protein information
Preferred Names
alpha-actinin-2
Names
alpha-actinin-2
F-actin cross-linking protein
alpha-actinin skeletal muscle
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

1

1q42-q43

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. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013].
Disorder

MIM: 102573

Cardiomyopathy, dilated, 1AA, 612158 (3)

mRNA Protein Product Sequence Price Select
NM_001103, 507588246 NP_001094, 4501893 alpha-actinin-2 isoform 1 ORF Sequence $660.00
NM_001278343, 507588247 NP_001265272, 507588248 alpha-actinin-2 isoform 2 ORF Sequence $750.00
NM_001278344, 507588249 NP_001265273, 507588250 alpha-actinin-2 isoform 3 ORF Sequence $700.00
KEGG
hsa04510Focal adhesion
hsa04520Adherens junction
hsa04530Tight junction
hsa04670Leukocyte transendothelial migration
hsa04810Regulation of actin cytoskeleton
hsa05322Systemic lupus erythematosus
hsa05412Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa05146Amoebiasis
hsa05203Viral carcinogenesis
WikiPathways
WP383Striated Muscle Contraction
WP2118Arrhythmogenic right ventricular cardiomyopathy
Reactome
REACT_798Platelet activation, signaling and aggregation
REACT_604Hemostasis
REACT_318Platelet degranulation
REACT_1280Response to elevated platelet cytosolic Ca2+
REACT_16969Striated Muscle Contraction
REACT_17044Muscle contraction
REACT_15370Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell
REACT_13477Transmission across Chemical Synapses
REACT_13685Neuronal System
REACT_20594Unblocking of NMDA receptor, glutamate binding and activation
REACT_20568CREB phosphorylation through the activation of Ras
REACT_20563Activation of NMDA receptor upon glutamate binding and postsynaptic events
REACT_20546Ras activation uopn Ca2+ infux through NMDA receptor
REACT_20593Post NMDA receptor activation events
REACT_20642CREB phosphorylation through the activation of CaMKII
REACT_23832Nephrin interactions
REACT_111155Cell-Cell communication
Homo sapiens (human)ACTN2NP_001094.1
Pan troglodytes (chimpanzee)ACTN2XP_001158729.2
Macaca mulatta (Rhesus monkey)ACTN2XP_001097795.1
Canis lupus familiaris (dog)ACTN2XP_856116.1
Bos taurus (cattle)ACTN2NP_001029807.1
Mus musculus (house mouse)Actn2NP_150371.4
Rattus norvegicus (Norway rat)Actn2NP_001163796.1
Gallus gallus (chicken)ACTN2NP_990654.1
Danio rerio (zebrafish)actn2NP_001032662.1
Xenopus (Silurana) tropicalis (western clawed frog)actn2NP_001005053.1
Process
IDNameEvidence
GO:0002576platelet degranulationTAS
GO:0007155cell adhesionTAS
GO:0007268synaptic transmissionTAS
GO:0007596blood coagulationTAS
GO:0030035microspike assemblyIDA
GO:0030049muscle filament slidingTAS
GO:0030168platelet activationTAS
GO:0042391regulation of membrane potentialIMP
GO:0042981regulation of apoptotic processNAS
GO:0043267negative regulation of potassium ion transportIMP
GO:0043268positive regulation of potassium ion transportIDA
GO:0048041focal adhesion assemblyIMP
GO:0051289protein homotetramerizationIDA
GO:1901017negative regulation of potassium ion transmembrane transporter activityIMP
GO:1901018positive regulation of potassium ion transmembrane transporter activityIDA
GO:2000009negative regulation of protein localization to cell surfaceIMP
GO:2000273positive regulation of receptor activityIEA
GO:2001141regulation of RNA biosynthetic processIEA
Component
IDNameEvidence
GO:0005576extracellular regionTAS
GO:0005829cytosolTAS
GO:0005856cytoskeletonNAS
GO:0005884actin filamentTAS
GO:0005925focal adhesionIMP
GO:0030018Z discIDA
GO:0030175filopodiumIDA
GO:0031093platelet alpha granule lumenTAS
GO:0031143pseudopodiumTAS
GO:0043197dendritic spineTAS
GO:0070062extracellular vesicular exosomeIDA
Function
IDNameEvidence
GO:0005178integrin bindingTAS
GO:0005509calcium ion bindingIEA
GO:0005515protein bindingIPI
GO:0008092cytoskeletal protein bindingIDA
GO:0008307structural constituent of muscleTAS
GO:0030274LIM domain bindingIEA
GO:0030375thyroid hormone receptor coactivator activityIEA
GO:0031432titin bindingIPI
GO:0042802identical protein bindingIPI
GO:0044325ion channel bindingIPI
GO:0046983protein dimerization activityIDA
GO:0051015actin filament bindingIEA
GO:0051373FATZ bindingIDA
GO:0070080titin Z domain bindingIPI
GeneCards ACTN2
PDB 1QUU, 1HCI, 1H8B
UniProt Q59FD9, P35609
Vega OTTHUMG00000040059
MIM 102573
Ensembl ENSG00000077522
HGNC 164
HPRD 00019

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Interactant

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