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

Gene ID: 88, updated on 30-Oct-2014
Official Symbol
ACTN2provided by HGNC
Official Full Name
actinin, alpha 2provided by HGNC
Primary source
HGNC:HGNC:164
See related
Ensembl:ENSG00000077522; HPRD:00019; MIM:102573; Vega:OTTHUMG00000040059
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CMD1AA
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]
See ACTN2 in Epigenomics, MapViewer
Location:
1q42-q43
Exon count:
23
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 1 NC_000001.11 (236686454..236764631)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (236849754..236927931)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene LGALS8 antisense RNA 1 Neighboring gene lectin, galactoside-binding, soluble, 8 Neighboring gene HEAT repeat containing 1 Neighboring gene ribosomal protein SA pseudogene 21 Neighboring gene 5-methyltetrahydrofolate-homocysteine methyltransferase Neighboring gene ribosomal protein L35 pseudogene 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Activation of NMDA receptor upon glutamate binding and postsynaptic events, organism-specific biosystem (from REACTOME)
    Activation of NMDA receptor upon glutamate binding and postsynaptic events, organism-specific biosystemNMDA receptors are a subtype of ionotropic glutamate receptors that are specifically activated by a glutamate agonist N-methyl-D-aspartate (NMDA). Activation of NMDA receptor involves opening of the ...
  • Adherens junction, organism-specific biosystem (from KEGG)
    Adherens junction, organism-specific biosystemCell-cell adherens junctions (AJs), the most common type of intercellular adhesions, are important for maintaining tissue architecture and cell polarity and can limit cell movement and proliferation....
  • Adherens junction, conserved biosystem (from KEGG)
    Adherens junction, conserved biosystemCell-cell adherens junctions (AJs), the most common type of intercellular adhesions, are important for maintaining tissue architecture and cell polarity and can limit cell movement and proliferation....
  • Amoebiasis, organism-specific biosystem (from KEGG)
    Amoebiasis, organism-specific biosystemEntamoeba histolytica, an extracellular protozoan parasite is a human pathogen that invades the intestinal epithelium. Infection occurs on ingestion of contaminated water and food. The pathogenesis o...
  • Amoebiasis, conserved biosystem (from KEGG)
    Amoebiasis, conserved biosystemEntamoeba histolytica, an extracellular protozoan parasite is a human pathogen that invades the intestinal epithelium. Infection occurs on ingestion of contaminated water and food. The pathogenesis o...
  • Arrhythmogenic right ventricular cardiomyopathy, organism-specific biosystem (from WikiPathways)
    Arrhythmogenic right ventricular cardiomyopathy, organism-specific biosystemAdapted from KEGG: http://www.genome.jp/kegg/pathway/hsa/hsa05412.html
  • Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystem (from KEGG)
    Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
  • Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystem (from KEGG)
    Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
  • CREB phosphorylation through the activation of CaMKII, organism-specific biosystem (from REACTOME)
    CREB phosphorylation through the activation of CaMKII, organism-specific biosystemCa2+ signal generated through NMDA receptor in the post-synaptic neuron activates adenylate cyclase signal transduction, leading to the activation of PKA and phosphorylation and activation of CREB-in...
  • CREB phosphorylation through the activation of Ras, organism-specific biosystem (from REACTOME)
    CREB phosphorylation through the activation of Ras, organism-specific biosystemCa2+ influx through the NMDA receptor initiates subsequent molecular pathways that have a defined role in establishing long-lasting synaptic changes. The molecular signaling initiated by a rise in Ca...
  • Cell-Cell communication, organism-specific biosystem (from REACTOME)
    Cell-Cell communication, organism-specific biosystemCell-to-Cell communication is crucial for multicellular organisms because it allows organisms to coordinate the activity of their cells. Some cell-to-cell communication requires direct cell-cell cont...
  • Focal adhesion, organism-specific biosystem (from KEGG)
    Focal adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
  • Focal adhesion, conserved biosystem (from KEGG)
    Focal adhesion, conserved biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
  • Leukocyte transendothelial migration, organism-specific biosystem (from KEGG)
    Leukocyte transendothelial migration, organism-specific biosystemLeukocyte migaration from the blood into tissues is vital for immune surveillance and inflammation. During this diapedesis of leukocytes, the leukocytes bind to endothelial cell adhesion molecules (C...
  • Leukocyte transendothelial migration, conserved biosystem (from KEGG)
    Leukocyte transendothelial migration, conserved biosystemLeukocyte migaration from the blood into tissues is vital for immune surveillance and inflammation. During this diapedesis of leukocytes, the leukocytes bind to endothelial cell adhesion molecules (C...
  • Muscle contraction, organism-specific biosystem (from REACTOME)
    Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
  • Nephrin interactions, organism-specific biosystem (from REACTOME)
    Nephrin interactions, organism-specific biosystemNephrin is a member of the Super-IgG-Molecule family and is most prominently expressed in kidney podocytes. It is a major if not the most important structural component of the slit diaphragm, a modif...
  • Neuronal System, organism-specific biosystem (from REACTOME)
    Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
  • Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell, organism-specific biosystem (from REACTOME)
    Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell, organism-specific biosystemThe neurotransmitter in the synaptic cleft released by the pre-synaptic neuron binds specific receptors located on the post-synaptic terminal. These receptors are either ion channels or G protein cou...
  • Platelet activation, signaling and aggregation, organism-specific biosystem (from REACTOME)
    Platelet activation, signaling and aggregation, organism-specific biosystemPlatelet activation begins with the initial binding of adhesive ligands and of the excitatory platelet agonists (released or generated at the sites of vascular trauma) to cognate receptors on the pla...
  • Platelet degranulation, organism-specific biosystem (from REACTOME)
    Platelet degranulation, organism-specific biosystemPlatelets function as exocytotic cells, secreting a plethora of effector molecules at sites of vascular injury. Platelets contain a number of distinguishable storage granules including alpha granules...
  • Post NMDA receptor activation events, organism-specific biosystem (from REACTOME)
    Post NMDA receptor activation events, organism-specific biosystemCa2+ influx through the NMDA receptor initiates subsequent molecular pathways that have a defined role in establishing long-lasting synaptic changes. The molecular signaling initiated by a rise in Ca...
  • Ras activation uopn Ca2+ infux through NMDA receptor, organism-specific biosystem (from REACTOME)
    Ras activation uopn Ca2+ infux through NMDA receptor, organism-specific biosystemCa2+ influx through the NMDA receptor leads to the activation of Ras kinase via the activation of RasGRF.
  • Regulation of actin cytoskeleton, organism-specific biosystem (from KEGG)
    Regulation of actin cytoskeleton, organism-specific biosystem
    Regulation of actin cytoskeleton
  • Regulation of actin cytoskeleton, conserved biosystem (from KEGG)
    Regulation of actin cytoskeleton, conserved biosystem
    Regulation of actin cytoskeleton
  • Response to elevated platelet cytosolic Ca2+, organism-specific biosystem (from REACTOME)
    Response to elevated platelet cytosolic Ca2+, organism-specific biosystemActivation of phospholipase C enzymes results in the generation of second messengers of the phosphatidylinositol pathway. The events resulting from this pathway are a rise in intracellular calcium an...
  • Striated Muscle Contraction, organism-specific biosystem (from WikiPathways)
    Striated Muscle Contraction, organism-specific biosystemMuscle contraction is the process where muscle tissue is activated by a signal from the nervous system. In case of voluntary action the nervous signals are initiated from the brain by so called actio...
  • Striated Muscle Contraction, organism-specific biosystem (from REACTOME)
    Striated Muscle Contraction, organism-specific biosystemStriated muscle contraction is a process whereby force is generated within striated muscle tissue, resulting in a change in muscle geometry, or in short, increased force being exerted on the tendons....
  • Systemic lupus erythematosus, organism-specific biosystem (from KEGG)
    Systemic lupus erythematosus, organism-specific biosystemSystemic lupus erythematosus (SLE) is a prototypic autoimmune disease characterised by the production of IgG autoantibodies that are specific for self-antigens, such as DNA, nuclear proteins and cert...
  • Systemic lupus erythematosus, conserved biosystem (from KEGG)
    Systemic lupus erythematosus, conserved biosystemSystemic lupus erythematosus (SLE) is a prototypic autoimmune disease characterised by the production of IgG autoantibodies that are specific for self-antigens, such as DNA, nuclear proteins and cert...
  • Tight junction, organism-specific biosystem (from KEGG)
    Tight junction, organism-specific biosystemEpithelial tight junctions (TJs) are composed of at least three types of transmembrane protein -occludin, claudin and junctional adhesion molecules (JAMs)- and a cytoplasmic 'plaque' consisting of ma...
  • Tight junction, conserved biosystem (from KEGG)
    Tight junction, conserved biosystemEpithelial tight junctions (TJs) are composed of at least three types of transmembrane protein -occludin, claudin and junctional adhesion molecules (JAMs)- and a cytoplasmic 'plaque' consisting of ma...
  • Transmission across Chemical Synapses, organism-specific biosystem (from REACTOME)
    Transmission across Chemical Synapses, organism-specific biosystemChemical synapses are specialized junctions that are used for communication between neurons, neurons and muscle or gland cells. The synapse involves a pre-synaptic neuron and a post-synaptic neuron,...
  • Unblocking of NMDA receptor, glutamate binding and activation, organism-specific biosystem (from REACTOME)
    Unblocking of NMDA receptor, glutamate binding and activation, organism-specific biosystemAt resting membrane potential the NMDA receptor is blocked by extracellular Mg2+ ions and therefore is not activated in this state by ligands (glutamate, glycine, NMDA). The voltage block is removed ...
  • Viral carcinogenesis, organism-specific biosystem (from KEGG)
    Viral carcinogenesis, organism-specific biosystemThere is a strong association between viruses and the development of human malignancies. We now know that at least six human viruses, Epstein-Barr virus (EBV), hepatitis B virus (HBV), hepatitis C vi...
  • Viral carcinogenesis, conserved biosystem (from KEGG)
    Viral carcinogenesis, conserved biosystemThere is a strong association between viruses and the development of human malignancies. We now know that at least six human viruses, Epstein-Barr virus (EBV), hepatitis B virus (HBV), hepatitis C vi...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
FATZ binding IDA
Inferred from Direct Assay
more info
PubMed 
LIM domain binding IEA
Inferred from Electronic Annotation
more info
 
actin filament binding IEA
Inferred from Electronic Annotation
more info
 
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
cytoskeletal protein binding IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
integrin binding TAS
Traceable Author Statement
more info
PubMed 
ion channel binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein dimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
structural constituent of muscle TAS
Traceable Author Statement
more info
PubMed 
thyroid hormone receptor coactivator activity IEA
Inferred from Electronic Annotation
more info
 
titin Z domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
titin binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
blood coagulation TAS
Traceable Author Statement
more info
 
cell adhesion TAS
Traceable Author Statement
more info
PubMed 
focal adhesion assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
microspike assembly IDA
Inferred from Direct Assay
more info
PubMed 
muscle filament sliding TAS
Traceable Author Statement
more info
 
negative regulation of potassium ion transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of potassium ion transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of protein localization to cell surface IMP
Inferred from Mutant Phenotype
more info
PubMed 
platelet activation TAS
Traceable Author Statement
more info
 
platelet degranulation TAS
Traceable Author Statement
more info
 
positive regulation of potassium ion transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of potassium ion transport IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of receptor activity IEA
Inferred from Electronic Annotation
more info
 
protein homotetramerization IDA
Inferred from Direct Assay
more info
PubMed 
regulation of RNA biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
regulation of apoptotic process NAS
Non-traceable Author Statement
more info
PubMed 
regulation of membrane potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
synaptic transmission TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
Z disc IDA
Inferred from Direct Assay
more info
PubMed 
actin filament TAS
Traceable Author Statement
more info
PubMed 
cytoskeleton NAS
Non-traceable Author Statement
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
dendritic spine TAS
Traceable Author Statement
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
 
filopodium IDA
Inferred from Direct Assay
more info
PubMed 
focal adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
platelet alpha granule lumen TAS
Traceable Author Statement
more info
 
pseudopodium TAS
Traceable Author Statement
more info
PubMed 
Preferred Names
alpha-actinin-2
Names
alpha-actinin-2
F-actin cross-linking protein
alpha-actinin skeletal muscle

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009081.1 

    Range
    4985..83162
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001103.3NP_001094.1  alpha-actinin-2 isoform 1

    See proteins identical to NP_001094.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes one of the longer isoforms (1) of this gene.
    Source sequence(s)
    AK315250, AL359185, BC047901, BX103017
    Consensus CDS
    CCDS1613.1
    UniProtKB/Swiss-Prot
    P35609
    Related
    ENSP00000355537, OTTHUMP00000037963, ENST00000366578, OTTHUMT00000096628
    Conserved Domains (6) summary
    cd00014
    Location:152257
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00051
    Location:757819
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    cd00176
    Location:402629
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    pfam00435
    Location:281391
    Spectrin; Spectrin repeat
    pfam08726
    Location:824890
    EFhand_Ca_insen; Ca2+ insensitive EF hand
    pfam13499
    Location:765818
    EF-hand_7; EF-hand domain pair
  2. NM_001278343.1NP_001265272.1  alpha-actinin-2 isoform 2

    See proteins identical to NP_001265272.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate internal coding exon and contains another compared to variant 1. The resulting isoform (2) has a few internal differences but is the same length as isoform 1.
    Source sequence(s)
    AK315250, AL359185, BX103017
    Consensus CDS
    CCDS60455.1
    UniProtKB/Swiss-Prot
    P35609
    Related
    ENSP00000443495, ENST00000542672
    Conserved Domains (6) summary
    cd00014
    Location:152257
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00051
    Location:757819
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    cd00176
    Location:402629
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    pfam00435
    Location:281391
    Spectrin; Spectrin repeat
    pfam08726
    Location:824890
    EFhand_Ca_insen; Ca2+ insensitive EF hand
    pfam13499
    Location:765818
    EF-hand_7; EF-hand domain pair
  3. NM_001278344.1NP_001265273.1  alpha-actinin-2 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains two alternate internal exons compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (3) with a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AB209521, AK315250, AL359185, BX103017
    Consensus CDS
    CCDS73053.1
    UniProtKB/Swiss-Prot
    P35609
    UniProtKB/TrEMBL
    Q59FD9
    Related
    ENSP00000438384, ENST00000546208
    Conserved Domains (5) summary
    cd00051
    Location:549611
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    cd00176
    Location:194421
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    pfam00435
    Location:73183
    Spectrin; Spectrin repeat
    pfam08726
    Location:616682
    EFhand_Ca_insen; Ca2+ insensitive EF hand
    pfam13499
    Location:557610
    EF-hand_7; EF-hand domain pair

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000001.11 

    Range
    236686454..236764631
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000133.1 

    Range
    207337725..207384040
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 

    Range
    238123313..238199388
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)