FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Human Disease Model Report: azoospermia and testicular germ cell cancer (postulated), FOXN3-related
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General Information
Name
azoospermia and testicular germ cell cancer (postulated), FOXN3-related
FlyBase ID
FBhh0001122
Disease Ontology Term
Parent Disease
OMIM
Overview

Identified in a GWAS analysis of Chinese men with non-obstructive azoospermia, the human gene FOXN3 is proposed as a candidate gene for involvement in human male infertility and development of testicular germ cell tumors. FOXN3 is a transcriptional repressor involved in DNA damage-inducible cell cycle arrests (checkpoints). There is a single fly ortholog, CHES-1-like, for which amorphic alleles created by targeted recombination, RNAi-targeting constructs and alleles caused by insertional mutagenesis have been generated. CHES-1-like is also orthologous to the human gene FOXN2.

The FOXN3 gene has not been introduced into flies.

Animals carrying amorphic mutations of CHES-1-like are viable and fertile, and show no defects in spermatogenesis. Ectopic expression of CHES-1-like in germ cells significantly reduces male fertility; spermatogonia fail to differentiate after four rounds of mitotic division, but continue to divide to form tumor-like structures.

[updated Oct. 2019 by FlyBase; FBrf0222196]

Disease Summary Information
Disease Summary: azoospermia and testicular germ cell cancer (postulated), FOXN3-related
OMIM report
Human gene(s) implicated
Symptoms and phenotype
Genetics
Cellular phenotype and pathology
Molecular information

FOXN3 is a member of the forkhead/winged helix transcription factor family; it appears to act as a transcriptional repressor. May be involved in DNA damage-inducible cell cycle arrests (checkpoints) at G1 and G2. [from Gene Cards, FOXN3; 2019.10.23]

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

    Many to one: 2 human to 1 Drosophila.

    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (1)
      Gene Snapshot
      Checkpoint suppressor 1-like (CHES-1-like) encodes a transcription factor that regulates the division of cardiac progenitor cells and dpp transcription in testis. [Date last reviewed: 2019-09-12]
      Cellular component (GO)
      Gene Groups / Pathways
      Comments on ortholog(s)

      Moderate-scoring ortholog of human FOXN3 and FOXN2 (1 Drosophila to 2 human). Dmel\CHES-1-like shares 25-26% identity and 36-39% 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
      Other Genes Used: Viral, Bacterial, Synthetic (0)
        Summary of Physical Interactions (0 groups)
        Alleles Reported to Model Human Disease (Disease Ontology) (0 alleles)
        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)