FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Human Disease Model Report: azoospermia (postulated), ZNF622-related
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General Information
Name
azoospermia (postulated), ZNF622-related
FlyBase ID
FBhh0000238
Disease Ontology Term
Parent Disease
OMIM
Overview

Identified in a GWAS analysis of Chinese men with non-obstructive azoospermia (FBrf0227519), the human gene ZNF622 is proposed as a candidate gene for involvement in human male fertility. ZNF622 is a zinc finger protein postulated to act as an activator of specific transcription factors. There is a single fly ortholog, CG6769, for which RNAi-targeting constructs and an allele caused by insertional mutagenesis have been generated.

The ZNF622 gene has not been introduced into flies.

In Drosophila, tissue-specific knockdown of CG6769 using GAL4/UAS-RNAi results in reduced male fertility; functional CG6769 is required in the somatic cells of the testis for normal fertility. Physical interactions of the Dmel\CG6769 protein product have been described; see below and in the FlyBase gene report for CG6769.

[updated Apr. 2016 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: azoospermia, non-obstructive
Symptoms and phenotype

Non-obstructive azoospermia (NOA) is defined as absence of any measurable level of sperm in semen, resulting from a defect in the production of spermatozoa in the testes. [from MedGen, Non-obstructive azoospermia; MedGen UID: 866757]

(FlyBase Curators, 2013-)

Non-obstructive azoospermia (NOA), or failure of spermatogenesis within the testis, is diagnosed in approximately 10% of infertile men. NOA may be due to a lack of appropriate stimulation by gonadotropins, in which case hormonal therapy is usually effective. A larger category of non-obstructive azoospermia consists of men with an intrinsic testicular impairment. In these cases, the primary approach is to improve the quantity and quality of sperm retrieved from the testis for use for in vitro fertilization (Kumar, 2013; PMCID:PMC3583162).

(FlyBase Curators, 2013-)
Specific Disease Summary: azoospermia (postulated), ZNF622-related
OMIM report
Human gene(s) implicated
Symptoms and phenotype

Observation of non-obstructive azoospermia (NOA).

(Yu et al., 2015)
Genetics

Locus identified in a genome-wide association study (GWAS) of non-obstructive azoospermia in Chinese men.

(Yu et al., 2015)
Cellular phenotype and pathology
Molecular information

ZNF622 (zinc finger protein 622) may act as an activator of the transcription factor, MYBL2, and possibly other transcription factors. [from UniProt:Q969S3; 2016.04.07]

(FlyBase Curators, 2013-)
External links
Disease synonyms
male infertility
non-obstructive azoospermia
spermatogenic failure
Ortholog Information
Human gene(s) in FlyBase
    Human gene (HGNC)
    Symbol / Name
    ZNF622; zinc finger protein 622
    D. melanogaster ortholog (based on DIOPT)
    Dmel\CG6769
    (DIOPT, 2013-)
    Comments on ortholog(s)

    One to one: 1 human to 1 Drosophila.

    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (1)
      Dmel\CG6769
      Gene Snapshot
      Contributions welcome
      Molecular function (GO)
      Cellular component (GO)
      Gene Groups / Pathways
        Comments on ortholog(s)

        Ortholog of human ZNF622 (1 Drosophila to 1 human). Dmel\CG6769 shares 39% identity and 56% similarity with human ZNF622.

        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 (14 groups)
          CG6769
          protein-protein
          Interacting group
          Assay
          References
          CG6769 - CG1307
          anti tag coimmunoprecipitation, peptide massfingerprinting, experimental knowledge based
          (Rhee et al., 2014)
          CG6769 - CG4318
          two hybrid array
          (Shokri et al., 2019)
          CG6769 - CG6654
          two hybrid
          (Hu et al., 2017.6.13)
          CG6769 - CG11085
          two hybrid array
          (Shokri et al., 2019)
          CG6769 - CG31835
          two hybrid array
          (Shokri et al., 2019)
          CG6769 - chn
          two hybrid array
          (Shokri et al., 2019)
          CG6769 - drk
          anti tag coimmunoprecipitation, peptide massfingerprinting, experimental knowledge based
          (Rhee et al., 2014)
          CG6769 - drm
          two hybrid array
          (Shokri et al., 2019)
          CG6769 - e(r)
          anti tag coimmunoprecipitation, peptide massfingerprinting, experimental knowledge based
          (Rhee et al., 2014)
          CG6769 - foxo
          anti tag coimmunoprecipitation, Identification by mass spectrometry
          (Vinayagam et al., 2016)
          CG6769 - Irbp18
          anti tag coimmunoprecipitation, peptide massfingerprinting, experimental knowledge based
          (Rhee et al., 2014)
          CG6769 - Lkb1
          anti tag coimmunoprecipitation, Identification by mass spectrometry
          (Vinayagam et al., 2016)
          CG6769 - MrgBP
          anti tag coimmunoprecipitation, peptide massfingerprinting, experimental knowledge based
          (Rhee et al., 2014)
          CG6769 - Odj
          two hybrid
          (Hu et al., 2017.6.13)
          Alleles Reported to Model Human Disease (Disease Ontology) (3 alleles)
          CG6769
          Models Based on Experimental Evidence ( 1 )
          Allele
          Disease
          Evidence
          References
          CG6769RNAi.UAS.THFC
          model of  azoospermia
          CEA
          (Yu et al., 2015)
          Modifiers Based on Experimental Evidence ( 2 )
          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
          CG6769UAS.ORF.GW.Tag:HA
          M{UAS-CG6769.ORF.3xHA.GW}
          RNAi constructs available
          Allele
          Transgene
          Publicly Available Stocks
          CG6769HMJ23405
          P{TRiP.HMJ23405}
          y1 v1; P{TRiP.HMJ23405}attP40/CyO
          CG6769GD12034
          P{GD12034}
          CG6769KK102279
          P{KK102279}
          P{KK102279}VIE-260B
          CG6769NIG.6769R
          P{NIG.6769R}
          P{NIG.6769R}2
          CG6769GLC01853
          P{TRiP.GLC01853}
          y1 sc* v1 sev21; P{TRiP.GLC01853}attP2
          CG6769RNAi.UAS.THFC
          P{UAS-CG6769.RNAi.THFC}
          CG6769HMC05334
          P{TRiP.HMC05334}
          y1 sc* v1 sev21; P{TRiP.HMC05334}attP40
          Selected Drosophila classical alleles
          Allele
          Allele class
          Mutagen
          Publicly Available Stocks
          References (4)