FB2026_02 , released June 18, 2026
FB2026_02 , released June 18, 2026
Human Disease Model Report: congenital heart defect (postulated), RPL14-related
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General Information
Name
congenital heart defect (postulated), RPL14-related
FlyBase ID
FBhh0001432
Disease Ontology Term
Parent Disease
OMIM
Overview

In an effort to identify genes critical to human heart development that are also expressed in other tissues, a screen for genes with cardiac-specific cis-regulatory elements was conducted in human. Identified candidate genes were assessed using orthologous genes in animal models, including Drosophila. The human ribosomal protein gene RPL14 was identified in this screen; the orthololgous Drosophila gene is RpL14. Multiple genetic reagents have been generated for Dmel\RpL14 including RNAi-targeting constructs, overexpression constructs, and alleles caused by insertional mutagenesis.

The human RPL14 gene has not been introduced into flies.

The RpL14 gene is haploinsufficient: heterozygous mutants display the 'Minute' phenotype, characterized by a slower developmental rate and small adult bristles. Severe loss-of-function genotypes result in embryonic lethality. Knockdown of Dmel\RpL14 specifically in developing cardiac cells, effected by RNAi, results in detectable heart development defects in larvae and 100% lethality by the third larval instar stage.

[updated Feb. 2022 by FlyBase; FBrf0222196]

Disease Summary Information
Disease Summary: congenital heart defect (postulated), RPL14-related
OMIM report
Human gene(s) implicated
Symptoms and phenotype
Genetics
Cellular phenotype and pathology
Molecular information

Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. RPS24 encodes a ribosomal protein that is a component of the 60S subunit. [Gene Cards, RPL14; 2022.02.06]

(FlyBase Curators, 2013-)
External links
Disease synonyms
Search term: ribosomopathy
Ortholog Information
Human gene(s) in FlyBase
    Human gene (HGNC)
    Symbol / Name
    RPL14; ribosomal protein L14
    D. melanogaster ortholog (based on DIOPT)
    Dmel\RpL14
    (DIOPT, 2013-)
    Comments on ortholog(s)

    One to one: 1 human gene to 1 Drosophila gene.

    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (1)
      Dmel\RpL14
      Gene Snapshot
      Ribosomal protein L14 (RpL14) encodes a component of the large subunit of cytoplasmic ribosomes, which translate mRNAs encoded by the nuclear genome. RpL14 is haploinsufficient - heterozygous mutants display the 'Minute' phenotype, characterized by a slower developmental rate and small adult bristles. [Date last reviewed: 2019-03-14]
      Molecular function (GO)
      Cellular component (GO)
      Gene Groups / Pathways
      Comments on ortholog(s)

      High-scoring ortholog of human RPL14 (1 Drosophila to 1 human).

      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 (99 groups)
        RpL14
        RNA-protein
        Interacting group
        Assay
        References
        RpL14 - 2SrRNA
        cosedimentation, electron microscopy
        (Anger et al., 2013)
        RpL14 - 5.8SrRNA
        cosedimentation, electron microscopy
        (Anger et al., 2013)
        RpL14 - 5SrRNA
        cosedimentation, electron microscopy
        (Anger et al., 2013)
        RpL14 - 18SrRNA
        cosedimentation, electron microscopy
        (Anger et al., 2013)
        RpL14 - 28SrRNA
        cosedimentation, electron microscopy
        (Anger et al., 2013)
        RpL14 - grk
        pull down, peptide massfingerprinting
        (McDermott et al., 2012)
        protein-protein
        Interacting group
        Assay
        References
        RpL14 - chico
        anti tag coimmunoprecipitation, Identification by mass spectrometry
        (Vinayagam et al., 2016)
        RpL14 - eEF2
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - foxo
        anti tag coimmunoprecipitation, Identification by mass spectrometry
        (Vinayagam et al., 2016)
        RpL14 - gig
        anti tag coimmunoprecipitation, Identification by mass spectrometry
        (Vinayagam et al., 2016)
        RpL14 - Lkb1
        anti tag coimmunoprecipitation, Identification by mass spectrometry
        (Vinayagam et al., 2016)
        RpL14 - Pi3K21B
        anti tag coimmunoprecipitation, Identification by mass spectrometry
        (Vinayagam et al., 2016)
        RpL14 - Pi3K92E
        anti tag coimmunoprecipitation, Identification by mass spectrometry
        (Vinayagam et al., 2016)
        RpL14 - Rack1
        cosedimentation, electron microscopy
        (Anger et al., 2013)
        RpL14 - Rheb
        anti tag coimmunoprecipitation, Identification by mass spectrometry
        (Vinayagam et al., 2016)
        RpL14 - rictor
        anti tag coimmunoprecipitation, Identification by mass spectrometry
        (Vinayagam et al., 2016)
        RpL14 - RpL3
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpL4
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpL5
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpL6
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpL7
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpL7A
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpL8
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpL9
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpL10
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpL10Ab
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpL11
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpL12
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpL13
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpL13A
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpL15
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpL17
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpL18
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpL18A
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpL19
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpL21
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpL22
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpL23
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpL23A
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpL24
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpL26
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpL27
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpL27A
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpL28
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpL29
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpL30
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpL31
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpL32
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpL34a
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpL35
        cosedimentation, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpL35A
        cosedimentation, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpL36
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpL36A
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpL37-1
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpL37A
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpL38
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpL39
        cosedimentation, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpL40
        cosedimentation, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpL41
        cosedimentation, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpLP0
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpLP1
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpLP2
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpS2
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpS3
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpS3A
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpS4
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpS5a
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpS6
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpS7
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpS8
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpS9
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpS10a
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpS11
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpS12
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpS13
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpS14a
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpS14b
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpS15
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpS15Aa
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpS16
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpS17
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpS18
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpS19a
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpS20
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpS21
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpS23
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpS24
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpS25
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpS26
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpS27
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpS27A
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpS28b
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpS29
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - RpS30
        cosedimentation, electron microscopy
        (Anger et al., 2013)
        RpL14 - S6kII
        anti tag coimmunoprecipitation, Identification by mass spectrometry
        (Vinayagam et al., 2016)
        RpL14 - sima
        anti tag coimmunoprecipitation, Identification by mass spectrometry
        (Vinayagam et al., 2016)
        RpL14 - sta
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        RpL14 - Thor
        anti tag coimmunoprecipitation, Identification by mass spectrometry
        (Vinayagam et al., 2016)
        RpL14 - vig2
        cosedimentation, Identification by mass spectrometry, electron microscopy
        (Anger et al., 2013)
        Alleles Reported to Model Human Disease (Disease Ontology) (2 alleles)
        RpL14
        Models Based on Experimental Evidence ( 2 )
        Allele
        Disease
        Evidence
        References
        RpL141
        model of  carcinoma
        CEA with TSG1012
        (Moberg et al., 2005)
        RpL14KK109141
        model of  congenital heart disease
        CEA
        (Nim et al., 2021)
        Modifiers Based on Experimental Evidence ( 0 )
        Allele
        Disease
        Interaction
        References
        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
        RpL14HMS05999
        P{TRiP.HMS05999}
        y1 sc* v1 sev21; P{TRiP.HMS05999}attP2/TM3, Sb1
        RpL14RNAi.UAS.cEa
        P{UAS-RpL14.RNAi.E}
        RpL14GD13508
        P{GD13508}
        w1118; P{GD13508}v44629/TM3
        RpL14KK109141
        P{KK109141}
        P{KK109141}VIE-260B
        RpL14NIG.6253R
        P{NIG.6253R}
        P{NIG.6253R}8
        RpL14RNAi.UAS
        M{UAS-RpL14.RNAi}
        RpL14RNAi.UAS.RpL14-r
        M{UAS-RpL14.RNAi.RpL14r}
        w*; P{Act5C-GAL4}25FO1/CyO; M{UAS-RpL14.RNAi.RpL14r}ZH-86Fb
        Selected Drosophila classical alleles
        Allele
        Allele class
        Mutagen
        Publicly Available Stocks
        RpL141
        P-element activity
        y1 w*; P{lacW}RpL141/TM2
        References (3)