Open Close
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]
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).
Specific Disease Summary: azoospermia (postulated), ZNF622-related
OMIM report
Human gene(s) implicated
Symptoms and phenotype
Observation of non-obstructive azoospermia (NOA).
Genetics
Locus identified in a genome-wide association study (GWAS) of non-obstructive azoospermia in Chinese men.
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]
External links
Disease synonyms
male infertility
spermatogenic failure
non-obstructive azoospermia
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 to 1 Drosophila.
    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (1)
      Gene Snapshot
      In progress.Contributions welcome.
      Molecular function (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
        Synthetic Gene(s) Used (0)
        Summary of Physical Interactions (14 groups)
        protein-protein
        Interacting group
        Assay
        References
        anti tag coimmunoprecipitation, peptide massfingerprinting, experimental knowledge based
        anti tag coimmunoprecipitation, peptide massfingerprinting, experimental knowledge based
        anti tag coimmunoprecipitation, peptide massfingerprinting, experimental knowledge based
        anti tag coimmunoprecipitation, Identification by mass spectrometry
        anti tag coimmunoprecipitation, peptide massfingerprinting, experimental knowledge based
        anti tag coimmunoprecipitation, Identification by mass spectrometry
        anti tag coimmunoprecipitation, peptide massfingerprinting, experimental knowledge based
        Alleles Reported to Model Human Disease (Disease Ontology) (1 alleles)
        Models Based on Experimental Evidence ( 1 )
        Allele
        Disease
        Evidence
        References
        Modifiers Based on Experimental Evidence ( 0 )
        Allele
        Disease
        Interaction
        References
        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
        Selected mammalian 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 (4)