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ACTN2 actinin alpha 2 [ Homo sapiens (human) ]

Gene ID: 88, updated on 27-Nov-2024

Summary

Official Symbol
ACTN2provided by HGNC
Official Full Name
actinin alpha 2provided by HGNC
Primary source
HGNC:HGNC:164
See related
Ensembl:ENSG00000077522 MIM:102573; AllianceGenome:HGNC:164
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
MPD6; CMH23; CMYO8; CMYP8; CMD1AA; MYOCOZ
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]
Expression
Restricted expression toward heart (RPKM 342.0) See more
Orthologs
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Genomic context

See ACTN2 in Genome Data Viewer
Location:
1q43
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (236686499..236764631)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (236087386..236175684)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (236849799..236927931)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2004 Neighboring gene LGALS8 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 1811 Neighboring gene MPRA-validated peak785 silencer Neighboring gene galectin 8 Neighboring gene HEAT repeat containing 1 Neighboring gene MPRA-validated peak786 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2825 Neighboring gene MPRA-validated peak787 silencer Neighboring gene control region 3 heart enhancer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2005 Neighboring gene VISTA enhancer hs2135 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2826 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2827 Neighboring gene Sharpr-MPRA regulatory region 3741 Neighboring gene 5-methyltetrahydrofolate-homocysteine methyltransferase Neighboring gene ribosomal protein SA pseudogene 21 Neighboring gene uncharacterized LOC105373218

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Dilated cardiomyopathy 1AA not available
Myopathy, congenital, with structured cores and z-line abnormalities
MedGen: C5231445 OMIM: 618654 GeneReviews: Not available
not available
Myopathy, distal, 6, adult-onset, autosomal dominant
MedGen: C5203349 OMIM: 618655 GeneReviews: Not available
not available
Primary dilated cardiomyopathy not available
Primary familial hypertrophic cardiomyopathy not available

EBI GWAS Catalog

Description
Genome-wide association study of chronic periodontitis in a general German population.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables FATZ binding IDA
Inferred from Direct Assay
more info
PubMed 
enables LIM domain binding IEA
Inferred from Electronic Annotation
more info
 
enables actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
enables cytoskeletal protein binding IDA
Inferred from Direct Assay
more info
PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables integrin binding TAS
Traceable Author Statement
more info
PubMed 
enables nuclear receptor coactivator activity IEA
Inferred from Electronic Annotation
more info
 
enables phosphatidylinositol-4,5-bisphosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein domain specific binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables structural constituent of muscle TAS
Traceable Author Statement
more info
PubMed 
enables structural constituent of postsynaptic actin cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
enables titin Z domain binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables titin Z domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables titin binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables transmembrane transporter binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in actin cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in actin filament uncapping IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cardiac muscle cell development IEA
Inferred from Electronic Annotation
more info
 
involved_in cell adhesion TAS
Traceable Author Statement
more info
PubMed 
involved_in focal adhesion assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in microspike assembly IDA
Inferred from Direct Assay
more info
PubMed 
involved_in muscle cell development IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in negative regulation of potassium ion transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of potassium ion transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of protein localization to cell surface IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in phospholipase C-activating angiotensin-activated signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of cation channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of endocytic recycling IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of potassium ion transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of potassium ion transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in postsynaptic actin cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
 
involved_in protein localization to plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of apoptotic process NAS
Non-traceable Author Statement
more info
PubMed 
involved_in regulation of membrane potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in sarcomere organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 actin filament TAS
Traceable Author Statement
more info
PubMed 
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
 
located_in cytoskeleton NAS
Non-traceable Author Statement
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in dendritic spine TAS
Traceable Author Statement
more info
PubMed 
located_in extracellular exosome HDA PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
 
located_in filopodium IDA
Inferred from Direct Assay
more info
PubMed 
located_in focal adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
colocalizes_with plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in platelet alpha granule lumen TAS
Traceable Author Statement
more info
 
located_in postsynaptic actin cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
located_in postsynaptic density membrane IEA
Inferred from Electronic Annotation
more info
 
located_in postsynaptic density, intracellular component IEA
Inferred from Electronic Annotation
more info
 
located_in pseudopodium TAS
Traceable Author Statement
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_009081.2 RefSeqGene

    Range
    27359..105491
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_436

mRNA and Protein(s)

  1. NM_001103.4NP_001094.1  alpha-actinin-2 isoform 1

    See identical proteins and their annotated locations for NP_001094.1

    Status: REVIEWED

    Source sequence(s)
    AL359185, AL359921
    Consensus CDS
    CCDS1613.1
    UniProtKB/Swiss-Prot
    B1ANE4, B2RCS5, P35609, Q86TF4, Q86TI8
    UniProtKB/TrEMBL
    A0A804HI95
    Related
    ENSP00000355537.4, ENST00000366578.6
    Conserved Domains (5) summary
    COG5069
    Location:36299
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
    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
    cl25352
    Location:747851
    EFh_PEF; The penta-EF hand (PEF) family
  2. NM_001278343.2NP_001265272.1  alpha-actinin-2 isoform 2

    See identical proteins and their annotated locations for NP_001265272.1

    Status: REVIEWED

    Source sequence(s)
    AL359185, AL359921
    Consensus CDS
    CCDS60455.1
    UniProtKB/TrEMBL
    A0A494C1A0
    Related
    ENSP00000443495.1, ENST00000542672.7
    Conserved Domains (7) 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; ...
    pfam00307
    Location:39137
    CH; Calponin homology (CH) domain
    pfam00435
    Location:281391
    Spectrin; Spectrin repeat
    pfam08726
    Location:824890
    EFhand_Ca_insen; Ca2+ insensitive EF hand
    pfam13499
    Location:759818
    EF-hand_7; EF-hand domain pair

RNA

  1. NR_184402.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL359185, AL359921
    Related
    ENST00000683111.1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    236686499..236764631
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    236087386..236175684
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)