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


RefSeq Accession Definition Services Price Order
NM_001103 Homo sapiens actinin, alpha 2 (ACTN2), mRNA. ORF Sequence $778.65
Peptide Services
Antibody Services
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Gene Symbol ACTN2
Entrez Gene ID 88
Full Name actinin, alpha 2
Synonyms CMD1AA
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. [provided by RefSeq, Jul 2008].
Disorder

MIM: 102573

Cardiomyopathy, dilated, 1AA, 612158 (3)

mRNA Protein Product Sequence Price Select
NM_001103, 161377421 NP_001094, 4501893 alpha-actinin-2 Full Length $1584.80
ORF Sequence $778.65
KEGG
hsa05146Amoebiasis
hsa04520Adherens junction
hsa04810Regulation of actin cytoskeleton
hsa04530Tight junction
hsa05203Viral carcinogenesis
hsa05322Systemic lupus erythematosus
hsa05412Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa04510Focal adhesion
hsa04670Leukocyte transendothelial migration
WikiPathways
WP383Striated Muscle Contraction
WP2118Arrhythmogenic right ventricular cardiomyopathy
Reactome
REACT_20594Unblocking of NMDA receptor, glutamate binding and activation
REACT_23832Nephrin interactions
REACT_798Platelet activation, signaling and aggregation
REACT_13477Transmission across Chemical Synapses
REACT_20563Activation of NMDA receptor upon glutamate binding and postsynaptic events
REACT_1280Response to elevated platelet cytosolic Ca2+
REACT_20642CREB phosphorylation through the activation of CaMKII
REACT_318Platelet degranulation
REACT_111155Cell-Cell communication
REACT_16969Striated Muscle Contraction
REACT_15370Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell
REACT_20546Ras activation uopn Ca2+ infux through NMDA receptor
REACT_20593Post NMDA receptor activation events
REACT_604Hemostasis
REACT_13685Neuronal System
REACT_17044Muscle contraction
REACT_20568CREB phosphorylation through the activation of Ras
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
GeneCards ACTN2
PDB 1QUU, 1HCI, 1H8B
UniProt P35609
MIM 102573
Ensembl ENSG00000077522
HGNC 164
HPRD 00019

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

General protein information

Preferred Names
alpha-actinin-2
Names
alpha-actinin-2
F-actin cross-linking protein
alpha-actinin skeletal muscle

Interactant

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