Property Summary

NCBI Gene PubMed Count 11
PubMed Score 6.85
PubTator Score 12.82

Knowledge Summary

Patent

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TINX Plot

  Disease Sources (3)

Gene RIF (6)

PMID Text
24825417 Case Report: report of a pregnancy obtained in a man with homozygous SPATA16 mutated globozoospermia.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
17847006 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.
17665087 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.
16372119 study demonstrated NYD-SP12 protein was involved in the formation of the acrosome during spermatogenesis
12529416 results suggest that NYD-SP12 is involved in spermatogenesis, and that NYD-SP12-encoded protein might function in the Golgi apparatus

AA Sequence

MDAGSSRSLENAVNRIYHDQLVPKINTSKKMSTLAHPPNILEMSQEIKKNCGGKQVEITLERTKMTKGIK      1 - 70
EKQSNDLEKAAFKRKAEGEEKPTRKKQAKITELDNQLITMPLPHIPLKNIMDVEMKLVYIDEMGVRYEFV     71 - 140
ESFMSTGSQPTCQAAEIVDPLSVHNFSFLPQIDKWLQVALKDASSCYRQKKYALAAGQFRTALELCSKGA    141 - 210
VLGEPFDAPAEDIASVASFIETKLVTCYLRMRKPDLALNHAHRSIVLNPAYFRNHLRQATVFRCLERYSE    211 - 280
AARSAMIADYMFWLGGGREESISKLIKLYWQAMIEEAITRAESFSVMYTPFATKIRADKIEKVKDAFTKT    281 - 350
HPAYAEYMYTDLQALHMLPQTVDWSSFPPQQYLLTLGFKNKDDGKFLEKISSRKLPIFTEHKTPFGLTRE    351 - 420
DTVRQMETMGKRILPILDFIRSTQLNGSFPASSGVMEKLQYASLLSQLQRVKEQSQVINQAMAELATIPY    421 - 490
LQDISQQEAELLQSLMADAMDTLEGRRNNNERVWNMIQKVGQIEDFLYQLEDSFLKTKKLRTARRQKTKM    491 - 560
KRLQTVQQR                                                                 561 - 569
//

Text Mined References (13)

PMID Year Title
24839885 2014 A genome-wide association meta-analysis of preschool internalizing problems.
24825417 2014 First successful pregnancy in a globozoospermic patient having homozygous mutation in SPATA16.
22219177 2012 A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
17847006 2007 Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia.
17665087 2007 Rapid evolution, genetic variations, and functional association of the human spermatogenesis-related gene NYD-SP12.
16641997 2006 The DNA sequence, annotation and analysis of human chromosome 3.
16372119 2006 Gene functional research using polyethylenimine-mediated in vivo gene transfection into mouse spermatogenic cells.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
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