Property Summary

NCBI Gene PubMed Count 16
PubMed Score 20.69
PubTator Score 15.63

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (3)

Disease Target Count P-value
osteosarcoma 7933 2.3e-04
Disease Target Count Z-score Confidence
Male infertility 170 4.325 2.2
Disease Target Count
Spermatogenic failure 10 1

Expression

  Differential Expression (1)

Disease log2 FC p
osteosarcoma 1.102 2.3e-04

Gene RIF (8)

PMID Text
25588830 results demonstrate the molecular architecture of SEPT12 filaments at the sperm annulus, their mechanical support of sperm motility, and their correlation with male infertility.
24213608 we discovered that the SEPTIN12-microtubule complexes are critical for sperm formation during spermiogenesis
22479503 SEPTIN12 genetic variants confer susceptibility to teratozoospermia
22275165 SEPT12 mutations cause male infertility with defective sperm annulus and disrupt sperm structural integrity
22116646 The c.204G>C (Gln38His) variant in the SEPTIN12 gene was associated with increased susceptibility to azoospermia caused by meiotic arrest
21636737 Eight coding single-nucleotide polymorphisms in SEPTIN12 were detected in the patients with Sertoli cell-only syndrome. Analysis of the results suggest that SEPTIN12 might play a critical role in human spermatogenesis.
19359518 Decreases in SEPTIN12 expression is associated with male infertility.
18047794 While SEPT12 formed filamentous structures at interphase, it was localized to the central spindle and to midbody during anaphase and cytokinesis, respectively.

AA Sequence

MDPLRRSPSPCLSSQPSSPSTPPCEMLGPVGIEAVLDQLKIKAMKMGFEFNIMVVGQSGLGKSTMVNTLF      1 - 70
KSKVWKSNPPGLGVPTPQTLQLHSLTHVIEEKGVKLKLTVTDTPGFGDQINNDNCWDPILGYINEQYEQY     71 - 140
LQEEILITRQRHIPDTRVHCCVYFVPPTGHCLRPLDIEFLQRLCRTVNVVPVIARADSLTMEEREAFRRR    141 - 210
IQQNLRTHCIDVYPQMCFDEDINDKILNSKLRDRIPFAVVGADQEHLVNGRCVLGRKTKWGIIEVENMAH    211 - 280
CEFPLLRDLLIRSHLQDLKDITHNIHYENYRVIRLNESHLLPRGPGWVNLAPASPGQLTTPRTFKVCRGA    281 - 350
HDDSDDEF                                                                  351 - 358
//

Text Mined References (19)

PMID Year Title
25775403 2015 SEPT12/SPAG4/LAMINB1 complexes are required for maintaining the integrity of the nuclear envelope in postmeiotic male germ cells.
25588830 2015 SEPT12 orchestrates the formation of mammalian sperm annulus by organizing core octameric complexes with other SEPT proteins.
25416956 2014 A proteome-scale map of the human interactome network.
24213608 2013 SEPT12-microtubule complexes are required for sperm head and tail formation.
22479503 2012 SEPTIN12 genetic variants confer susceptibility to teratozoospermia.
22275165 2012 SEPT12 mutations cause male infertility with defective sperm annulus.
22116646 2012 Single nucleotide polymorphisms in the SEPTIN12 gene may be associated with azoospermia by meiotic arrest in Japanese men.
21636737 Single-nucleotide polymorphisms in the SEPTIN12 gene may be a genetic risk factor for Japanese patients with Sertoli cell-only syndrome.
19359518 2009 The expression level of septin12 is critical for spermiogenesis.
18443421 2008 GTP binding is required for SEPT12 to form filaments and to interact with SEPT11.
18047794 2007 SEPT12 interacts with SEPT6 and this interaction alters the filament structure of SEPT6 in Hela cells.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17685441 2007 Sept12 is a component of the mammalian sperm tail annulus.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
15915442 2005 Expression profiling the human septin gene family.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14611653 2003 The septins.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.