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    ACTN2 actinin alpha 2 [ Homo sapiens (human) ]

    Gene ID: 88, updated on 31-Mar-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; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ACTN2 in Genome Data Viewer
    Location:
    1q43
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (236686499..236764631)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (236087386..236175684)
    105.20220307 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?

    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 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 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_2023_10

    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)