FB2026_02 , released June 18, 2026
Human Disease Model Report: congenital heart defect (postulated), PSMD7-related
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General Information
Name
congenital heart defect (postulated), PSMD7-related
FlyBase ID
FBhh0001433
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 PSMD7 gene, which encodes a component of the 26S proteasome, was identified in this screen; the orthololgous Drosophila gene is Rpn8. Multiple genetic reagents have been generated for Dmel\Rpn8 including RNAi-targeting constructs, overexpression constructs, and alleles caused by insertional mutagenesis.

The human PSMD7 gene has not been introduced into flies.

Knockdown of Dmel\Rpn8 specifically in developing cardiac cells, effected by RNAi, results in detectable heart development defects in larvae and 96% lethality.

[updated Feb. 2022 by FlyBase; FBrf0222196]

Disease Summary Information
Disease Summary: congenital heart defect (postulated), PSMD7-related
OMIM report
Human gene(s) implicated
Symptoms and phenotype
Genetics
Cellular phenotype and pathology
Molecular information

PSMD7 encodes a component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. [Gene Cards, PSMD7; 2022.02.06]

External links
Disease synonyms
Ortholog Information
Human gene(s) in FlyBase
    Human gene (HGNC)
    D. melanogaster ortholog (based on DIOPT)
    Comments on ortholog(s)

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

    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (1)
      Gene Groups / Pathways
      Comments on ortholog(s)

      High-scoring ortholog of human PSMD7 (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
      Other Genes Used: Viral, Bacterial, Synthetic (0)
        Summary of Physical Interactions (27 groups)
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        Interacting group
        Assay
        References
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        Alleles Reported to Model Human Disease (Disease Ontology) (4 alleles)
        Models Based on Experimental Evidence ( 3 )
        Modifiers Based on Experimental Evidence ( 1 )
        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
        Selected Drosophila classical alleles
        Allele
        Allele class
        Mutagen
        Publicly Available Stocks
        References (3)