ZFIN ID: ZDB-GENE-051127-39
Gene Name: actinin, alpha 2b
Gene Symbol: actn2b    Nomenclature History

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Previous Names: actn2, wu:fd44c03, zgc:123223

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 17 Mapping Details/Browsers
Description: Predicted to have actin binding activity and calcium ion binding activity. Involved in animal organ development and striated muscle cell development. Human ortholog(s) of this gene implicated in arrhythmogenic right ventricular cardiomyopathy and dilated cardiomyopathy 1AA. Is expressed in several structures, including brain; cardiovascular system; eye; muscle; and ovary. Orthologous to human ACTN2 (actinin alpha 2).
Genome Resources: Alliance (1),  Gene:641575 (1),  Ensembl(GRCz11):ENSDARG00000071090 (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
sa274 Point Mutation Unknown Stop Loss, Premature Stop ENU
sa36379 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa36380 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa42906 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • Sequence Targeting Reagents
    Targeting Reagent Created Alleles Publications
    MO1-actn2b N/A 2
    MO2-actn2b N/A 1
    MO3-actn2b N/A 1
    MO4-actn2b N/A 1
    MO5-actn2b N/A 1
    DISEASE ASSOCIATED WITH actn2b HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    dilated cardiomyopathy 1AA Alliance Cardiomyopathy, dilated, 1AA, with or without LVNC 612158
    Cardiomyopathy, hypertrophic, 23, with or without LVNC 612158
    Myopathy, congenital with structured cores and Z-line abnormalities 618654
    Myopathy, distal, 6, adult onset 618655
    DISEASE ASSOCIATED WITH actn2b VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process eye development (more)
    Molecular Function actin binding (more)
    GO Terms (all 7)
    PROTEIN FAMILIES, DOMAINS AND SITES
    Type InterPro ID Name
    Conserved_site IPR001589 Actinin-type actin-binding domain, conserved site
    Domain IPR001715 Calponin homology domain
    Repeat IPR002017 Spectrin repeat
    Domain IPR002048 EF-hand domain
    Homologous_superfamily IPR011992 EF-hand domain pair
    Domain IPR014837 EF-hand, Ca insensitive
    Repeat IPR018159 Spectrin/alpha-actinin
    Homologous_superfamily IPR036872 CH domain superfamily
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    aberrant processed transcript actn2b-201 (1)    Ensembl 2470
    mRNA actn2b-202 (1)    Ensembl 2986
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    SignaFish
    ANTIBODIES
    Name Type Isotype Host Organism Assay Source Publications
    Ab1-actn2 Rabbit IHC 1
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM actn2b
    Construct Regulatory Regions Coding Sequences Species Tg Lines Publications
    Tg(myl7:actn2b-tdEos) myl7 actn2btdEos Danio rerio 1 1
    Tg(ttn.2:actn2-EGFP) ttn.2 actn2bEGFP Danio rerio 1 4
    MARKER RELATIONSHIPS
    actn2b Contained in: [BAC] CH211-248A14 (1), DKEY-13B19 (1) (order this)
    actn2b Encodes: [EST] fd44c03
    [cDNA] MGC:123223 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:NM_001037573 (1) 2986 bp
    Genomic GenBank:BX005070 242955 bp Blast at MegaBLAST
    Polypeptide UniProtKB:A0A2R8QBL5 (1) 895 aa
    Sequence Information (all 17)
    ORTHOLOGY for actn2b ( Chr: 17 )
    CITATIONS (35)