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    SPATA16 spermatogenesis associated 16 [ Homo sapiens (human) ]

    Gene ID: 83893, updated on 10-Dec-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    SPATA16 promoter hypermethylation and downregulation in male infertility.

    SPATA16 promoter hypermethylation and downregulation in male infertility.
    Sujit KM, Pallavi S, Singh V, Andrabi SW, Trivedi S, Sankhwar SN, Gupta G, Rajender S.

    10/22/2022
    Association of CATSPER1, SPATA16 and TEX11 genes polymorphism with idiopathic azoospermia and oligospermia risk in Iranian population.

    Association of CATSPER1, SPATA16 and TEX11 genes polymorphism with idiopathic azoospermia and oligospermia risk in Iranian population.
    Behvarz M, Rahmani SA, Siasi Torbati E, Danaei Mehrabad S, Bikhof Torbati M., Free PMC Article

    04/30/2022
    Study showed that SPATA16 defects could be associated with an abnormal meiosis leading to a particular morphological sperm defect of double/multiple round-headed and multi-flagella and a higher sperm aneuploidy rate than in case of DPY19L2-defects in classic globozoospermia.

    Comparison of sperm morphology and nuclear sperm quality in SPATA16- and DPY19L2-mutated globozoospermic patients.
    Ghédir H, Braham A, Viville S, Saad A, Ibala-Romdhane S.

    01/11/2020
    This study demonstrates that Spata16 is indispensable for male fertility in mice, as well as in humans.

    Human Globozoospermia-Related Gene Spata16 Is Required for Sperm Formation Revealed by CRISPR/Cas9-Mediated Mouse Models.
    Fujihara Y, Oji A, Larasati T, Kojima-Kita K, Ikawa M., Free PMC Article

    07/14/2018
    Mutation of SPATA16 is associated with globozoospermia.

    A new mutation identified in SPATA16 in two globozoospermic patients.
    ElInati E, Fossard C, Okutman O, Ghédir H, Ibala-Romdhane S, Ray PF, Saad A, Hennebicq S, Viville S., Free PMC Article

    03/11/2017
    Case Report: report of a pregnancy obtained in a man with homozygous SPATA16 mutated globozoospermia.

    First successful pregnancy in a globozoospermic patient having homozygous mutation in SPATA16.
    Karaca N, Yilmaz R, Kanten GE, Kervancioglu E, Solakoglu S, Kervancioglu ME.

    08/30/2014
    Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)

    Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article

    06/30/2010
    Results indicate that NYD-SP12 evolves rapidly in both the human and the chimpanzee lineages, which is likely caused by Darwinian positive selection and/or sexual selection.

    Rapid evolution, genetic variations, and functional association of the human spermatogenesis-related gene NYD-SP12.
    Zhang Q, Zhang F, Chen XH, Wang YQ, Wang WQ, Lin AA, Cavalli-Sforza LL, Jin L, Huo R, Sha JH, Li Z, Su B.

    01/21/2010
    consanguineous family with three affected brothers, in whom we have identified a homozygous mutation in the spermatogenesis-specific gene SPATA16. This is the first example of a nonsyndromic male infertility condition caused by an autosomal gene defect.

    Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia.
    Dam AH, Koscinski I, Kremer JA, Moutou C, Jaeger AS, Oudakker AR, Tournaye H, Charlet N, Lagier-Tourenne C, van Bokhoven H, Viville S., Free PMC Article

    01/21/2010
    results suggest that NYD-SP12 is involved in spermatogenesis, and that NYD-SP12-encoded protein might function in the Golgi apparatus

    Identification and characterization of a novel human testis-specific Golgi protein, NYD-SP12.
    Xu M, Xiao J, Chen J, Li J, Yin L, Zhu H, Zhou Z, Sha J.

    01/21/2010
    study demonstrated NYD-SP12 protein was involved in the formation of the acrosome during spermatogenesis

    Gene functional research using polyethylenimine-mediated in vivo gene transfection into mouse spermatogenic cells.
    Lu L, Lin M, Xu M, Zhou ZM, Sha JH.

    01/21/2010
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