FB2026_02 , released June 18, 2026
Human Disease Model Report: cardiac dysfunction (postulated), talin-related
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General Information
Name
cardiac dysfunction (postulated), talin-related
FlyBase ID
FBhh0001023
Disease Ontology Term
Parent Disease
OMIM
Overview

Findings in Drosophila have implicated the fly talin gene (designated rhea) in cardiac dysfunction. Dmel\rhea is orthologous to two human talin genes, TLN2 and TLN1. Talins are cytoskeletal proteins that play a significant role in the assembly of actin filaments; they are major components of focal adhesion plaques that link integrin to the actin cytoskeleton. Amorphic and hypomorphic mutations, RNAi-targeting constructs, and alleles caused by insertional mutagenesis have been generated for Dmel\rhea.

Neither human gene (TLN2, TLN1) has been introduced into flies.

Targeted knockdown of Dmel\rhea specifically in cardiac cells and at different developmental times has revealed a continuous requirement for talin during heart growth and during heart remodeling after hatching and during metamorphosis; restoration of rhea expression does not compensate in either case. A deficit of talin during heart growth reduces heart contraction and lifespan; a deficit during heart remodeling results in dilated cardiomyopathy and a fibrillating heart with poor rhythmicity.

Physical and genetic interactions have been described for Dmel\rhea; see below and in the rhea gene report.

[updated May 2019 by FlyBase; FBrf0222196]

Disease Summary Information
Disease Summary: cardiac dysfunction (postulated), talin-related
OMIM report
Human gene(s) implicated
Symptoms and phenotype

Mechanotransduction of tension plays a role in the remodeling of cardiomyocytes during growth or cardiomyopathy; tension is signaled through the integrin adhesion complexes. Mutations in Integrin ligands or the Integrin Adhesion complex are associated with human cardiomyopathies (FBrf0228814 and references cited therein).

(FlyBase Curators, 2013-)
Genetics
Cellular phenotype and pathology
Molecular information

The Drosophila talin, rhea, localizes to focal adhesions, small regions on the surface of a cell that anchor the cell to the extracellular matrix and that forms a point of termination of actin filaments. (FlyBase gene report, rhea.)

(FlyBase Curators, 2013-)

Talins are cytoskeletal proteins that play a significant role in the assembly of actin filaments and in spreading and migration of various cell types, including fibroblasts and osteoclasts. They are major components of focal adhesion plaques that link integrin to the actin cytoskeleton; involved in connections of major cytoskeletal structures to the plasma membrane. [Gene Cards, TLN2, TLN1; 2019.05.13]

(FlyBase Curators, 2013-)
External links
Disease synonyms
Ortholog Information
Human gene(s) in FlyBase
    Human gene (HGNC)
    Symbol / Name
    TLN1; talin 1
    D. melanogaster ortholog (based on DIOPT)
    Dmel\rhea
    (DIOPT, 2013-)
    Comments on ortholog(s)

    Many to one: 2 human to 1 Drosophila. The human genes are TLN1 and TLN2.

    Human gene (HGNC)
    Symbol / Name
    TLN2; talin 2
    D. melanogaster ortholog (based on DIOPT)
    Dmel\rhea
    (DIOPT, 2013-)
    Comments on ortholog(s)

    Many to one: 2 human to 1 Drosophila. The human genes are TLN1 and TLN2.

    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (1)
      Dmel\rhea
      Gene Snapshot
      rhea (rhea) encodes fly talin, a large adaptor protein that is essential for all adhesive functions of integrins. It also has at least one role independent of integrins: repressing shg transcription in follicle cells. [Date last reviewed: 2019-03-14]
      Molecular function (GO)
      Cellular component (GO)
      Gene Groups / Pathways
        Comments on ortholog(s)

        High-scoring ortholog of human TLN2 and TLN1 (1 Drosophila to 2 human). Dmel\rhea shares 44-47% identity and 66-67% similarity with the human genes.

        Orthologs and Alignments from DRSC
        DIOPT - DRSC Integrative Ortholog Prediction Tool - Click the link below to search for orthologs in Humans
        H. sapiens (Human)
        Other Genes Used: Viral, Bacterial, Synthetic (0)
          Summary of Physical Interactions (7 groups)
          rhea
          protein-protein
          Interacting group
          Assay
          References
          rhea - CalpB
          enzymatic study, western blot, anti bait coimmunoprecipitation
          (Kókai et al., 2012)
          rhea - mew
          anti tag coimmunoprecipitation, anti tag western blot
          (Orr et al., 2022)
          rhea - mys
          anti tag coimmunoprecipitation, anti tag western blot, phenotype-based detection assay, fluorescence microscopy, inferred by author
          (Orr et al., 2022, Tanentzapf et al., 2006)
          rhea - Rab30
          pull down, peptide massfingerprinting
          (Gillingham et al., 2014)
          rhea - Slik
          protein kinase assay, western blot
          (Katzemich et al., 2019)
          rhea - Vinc
          phenotype-based detection assay, fluorescence microscopy, inferred by author
          (Maartens et al., 2016)
          rhea - wech
          pull down, western blot, anti tag coimmunoprecipitation, anti tag western blot
          (Loer et al., 2008)
          Alleles Reported to Model Human Disease (Disease Ontology) (2 alleles)
          rhea
          Models Based on Experimental Evidence ( 0 )
          Allele
          Disease
          Evidence
          References
          Modifiers Based on Experimental Evidence ( 2 )
          Allele
          Disease
          Interaction
          References
          rhea1
          ameliorates  tauopathy
          modeled by Hsap\MAPTUAS.2N4R.cUa
          (Gusareva et al., 2018)
          rheaHM05161
          ameliorates  intestinal cancer
          modeled by ykiS111A.S168A.S250A.UAS.Tag:V5
          (Bajpai et al., 2020)
          Alleles Representing Disease-Implicated Variants
          Genetic Tools, Stocks and Reagents
          Sources of Stocks
          Contact lab of origin for a reagent not available from a public stock center.
          Bloomington Stock Center Disease Page
          Related mammalian, viral, bacterial, or synthetic transgenes
          Allele
          Transgene
          Publicly Available Stocks
          Selected Drosophila transgenes
          Allele
          Transgene
          Publicly Available Stocks
          RNAi constructs available
          Allele
          Transgene
          Publicly Available Stocks
          rheaGD12050
          P{GD12050}
          w1118; P{GD12050}v40399
          rheaHM05161
          P{TRiP.HM05161}
          y1 v1; P{TRiP.HM05161}attP2
          rheaHMS00799
          P{TRiP.HMS00799}
          y1 sc* v1 sev21; P{TRiP.HMS00799}attP2
          rheaHMS00856
          P{TRiP.HMS00856}
          y1 sc* v1 sev21; P{TRiP.HMS00856}attP2
          rheaRNAi.UAS.cUa
          P{UAS-rhea.RNAi.U}
          rheaNIG.6831R
          P{NIG.6831R}
          P{NIG.6831R}1
          Selected Drosophila classical alleles
          Allele
          Allele class
          Mutagen
          Publicly Available Stocks
          rheaK17E
          amorphic allele - genetic evidence
          CRISPR/Cas9
          rheaABS2
          loss of function allele
          CRISPR/Cas9
          rheaABS3
          loss of function allele
          CRISPR/Cas9
          rhea1
          X ray
          rheaC69
          amorphic allele - molecular evidence
          ethyl methanesulfonate
          rheaC92
          amorphic allele - molecular evidence
          ethyl methanesulfonate
          rheaC49
          amorphic allele - molecular evidence
          ethyl methanesulfonate
          References (4)