Actn2 actinin alpha 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Actn2provided by MGI
Official Full Name: actinin alpha 2provided by MGI
Primary source: MGI:MGI:109192
See related: Ensembl:ENSMUSG00000052374 AllianceGenome:MGI:109192
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 1110008F24Rik
Summary: Enables several functions, including LIM domain binding activity; nuclear receptor coactivator activity; and transmembrane transporter binding activity. Involved in cardiac muscle cell development; positive regulation of transport; and protein localization to plasma membrane. Acts upstream of or within muscle contraction. Located in Z disc. Is expressed in several structures, including alimentary system; heart; limb; musculature; and trunk somite. Human ortholog(s) of this gene implicated in arrhythmogenic right ventricular cardiomyopathy and dilated cardiomyopathy 1AA. Orthologous to human ACTN2 (actinin alpha 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in heart adult (RPKM 363.9), limb E14.5 (RPKM 39.1) and 1 other tissue See more
Orthologs: human all
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Genomic context

Location:: 13 A1; 13 4.54 cM

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	13	NC_000079.7 (12284312..12355613, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	13	NC_000079.6 (12269426..12340732, complement)

Chromosome 13 - NC_000079.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Induction of filopodia formation by alpha-Actinin-2 via RelA with a feedforward activation loop promoting overt bone marrow metastasis of gastric cancer.
Title: Induction of filopodia formation by α-Actinin-2 via RelA with a feedforward activation loop promoting overt bone marrow metastasis of gastric cancer.
Insights into the Role of a Cardiomyopathy-Causing Genetic Variant in ACTN2.
Title: Insights into the Role of a Cardiomyopathy-Causing Genetic Variant in ACTN2.
Differential regulation of Actn2 and Actn3 expression during unfolded protein response in C2C12 myotubes.
Title: Differential regulation of Actn2 and Actn3 expression during unfolded protein response in C2C12 myotubes.
Sarcomeres regulate murine cardiomyocyte maturation through MRTF-SRF signaling.
Title: Sarcomeres regulate murine cardiomyocyte maturation through MRTF-SRF signaling.
Cardiac MLC2 kinase is localized to the Z-disc and interacts with alpha-actinin2.
Title: Cardiac MLC2 kinase is localized to the Z-disc and interacts with α-actinin2.
Data suggest that kindlin-2 (Kind2/Fermt2) interacts with actin alpha 2 (Actn2) and integrin beta 1 (Itgb1) and co-localizes to cardiac sarcomere at Z-disc; knockdown of Kind2 leads to dissociation of Actn2 and Itgb1.
Title: Kindlin-2 interacts with α-actinin-2 and β1 integrin to maintain the integrity of the Z-disc in cardiac muscles.
Data show that alpha-Actinin 2 and CaMKIIalpha exist in complex with GluN2B in forebrain.
Title: Substrate-selective and calcium-independent activation of CaMKII by α-actinin.
Data demonstrated that the Z-disk proteins, ZASP, titin and vinculin preferentially bind to alpha-actinin-2. Thus, the loss of alpha-actinin-3 changes the overall protein composition of fast fiber Z-disks and alters their elastic properties.
Title: Deficiency of α-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodeling.
alpha-Actinin, rapsyn, and surface AChR form a ternary complex.
Title: alpha-Actinin interacts with rapsyn in agrin-stimulated AChR clustering.
BPAG1-b was detectable in vitro and in vivo as a high molecular mass protein in striated and heart muscle cells, co-localizing with alpha-actinin-2 and partially with the cytolinker plectin as well as with the intermediate filament protein desmin.
Title: BPAG1 isoform-b: complex distribution pattern in striated and heart muscle and association with plectin and alpha-actinin.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (1) 1 citation
Endonuclease-mediated (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Actn2 (e-PCR), detects polymorphism
- UniSTS:462637

D13Mit173 (e-PCR), detects polymorphism
- UniSTS:116534

Actn2 (e-PCR), detects polymorphism
- UniSTS:228475

Actn2 (e-PCR), detects polymorphism
- UniSTS:508559

Actn2 (e-PCR), detects polymorphism
- UniSTS:141020

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables FATZ binding	ISO Inferred from Sequence Orthology more info
enables LIM domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables actin binding	IEA Inferred from Electronic Annotation more info
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables actin filament binding	IDA Inferred from Direct Assay more info	PubMed
enables actin filament binding	TAS Traceable Author Statement more info	PubMed
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables cytoskeletal protein binding	IDA Inferred from Direct Assay more info	PubMed
enables cytoskeletal protein binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables nuclear receptor coactivator activity	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-4,5-bisphosphate binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	ISO Inferred from Sequence Orthology more info
enables protein-macromolecule adaptor activity	TAS Traceable Author Statement more info	PubMed
enables titin Z domain binding	ISO Inferred from Sequence Orthology more info
enables titin binding	ISO Inferred from Sequence Orthology more info
enables transmembrane transporter binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane transporter binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in actin cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in actin filament uncapping	ISO Inferred from Sequence Orthology more info
involved_in cardiac muscle cell development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in focal adhesion assembly	ISO Inferred from Sequence Orthology more info
involved_in microspike assembly	ISO Inferred from Sequence Orthology more info
involved_in muscle cell development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within muscle contraction	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of potassium ion transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of potassium ion transport	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of protein localization to cell surface	ISO Inferred from Sequence Orthology more info
involved_in phospholipase C-activating angiotensin-activated signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cation channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cation channel activity	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of endocytic recycling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of endocytic recycling	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of potassium ion transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of potassium ion transport	ISO Inferred from Sequence Orthology more info
involved_in protein localization to plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to plasma membrane	ISO Inferred from Sequence Orthology more info
involved_in regulation of membrane potential	ISO Inferred from Sequence Orthology more info
involved_in sarcomere organization	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in Z disc	IBA Inferred from Biological aspect of Ancestor more info
located_in Z disc	IDA Inferred from Direct Assay more info	PubMed
located_in Z disc	ISO Inferred from Sequence Orthology more info
is_active_in cell junction	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cell projection	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cortical actin cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
colocalizes_with cortical actin cytoskeleton	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in filopodium	ISO Inferred from Sequence Orthology more info
located_in focal adhesion	ISO Inferred from Sequence Orthology more info
is_active_in glutamatergic synapse	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
colocalizes_with plasma membrane	ISO Inferred from Sequence Orthology more info
is_active_in postsynaptic actin cytoskeleton	ISO Inferred from Sequence Orthology more info
is_active_in postsynaptic density membrane	ISO Inferred from Sequence Orthology more info
is_active_in postsynaptic density, intracellular component	ISO Inferred from Sequence Orthology more info
located_in sarcomere	IDA Inferred from Direct Assay more info	PubMed
located_in striated muscle thin filament	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: alpha-actinin-2

Names: F-actin cross-linking protein; alpha-actinin skeletal muscle

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_033268.4 → NP_150371.4 alpha-actinin-2

See identical proteins and their annotated locations for NP_150371.4

Status: VALIDATED

Source sequence(s)

AF248643, BC089579

Consensus CDS

CCDS26239.1

UniProtKB/Swiss-Prot

G3UW84, Q9JI91

UniProtKB/TrEMBL

Q8K3Q4

Related

ENSMUSP00000067708.8, ENSMUST00000064204.14

Conserved Domains (6) summary

PTZ00184
Location:747 → 851

PTZ00184; calmodulin; Provisional

cd00176
Location:402 → 629

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:281 → 391

Spectrin; Spectrin repeat

pfam08726
Location:824 → 890

EFhand_Ca_insen; Ca2+ insensitive EF hand

cd21214
Location:35 → 139

CH_ACTN_rpt1; first calponin homology (CH) domain found in the alpha-actinin family

cd21216
Location:143 → 257

CH_ACTN_rpt2; second calponin homology (CH) domain found in the alpha-actinin family

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000079.7 Reference GRCm39 C57BL/6J

Range

12284312..12355613 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036157837.1 → XP_036013730.1 alpha-actinin-2 isoform X1

Conserved Domains (4) summary

PTZ00184
Location:489 → 593

PTZ00184; calmodulin; Provisional

cd00176
Location:144 → 371

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:23 → 133

Spectrin; Spectrin repeat

pfam08726
Location:566 → 632

EFhand_Ca_insen; Ca2+ insensitive EF hand