SEPTIN12 (septin 12)

2014-01-01  

Identity

HGNC
LOCATION
16p13.3
LOCUSID
ALIAS
SEPT12,SPGF10

Other Information

Locus ID:

NCBI: 124404
MIM: 611562
HGNC: 26348
Ensembl: ENSG00000140623

Variants:

dbSNP: 124404
ClinVar: 124404
TCGA: ENSG00000140623
COSMIC: SEPTIN12

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000140623ENST00000268231Q8IYM1
ENSG00000140623ENST00000396693Q8IYM1
ENSG00000140623ENST00000396693A0A140VJU2
ENSG00000140623ENST00000587603K7EP57
ENSG00000140623ENST00000588241K7EIJ5
ENSG00000140623ENST00000590741K7ES86
ENSG00000140623ENST00000591624K7EP92

Pathways

PathwaySourceExternal ID
Bacterial invasion of epithelial cellsKEGGko05100
Bacterial invasion of epithelial cellsKEGGhsa05100

References

Pubmed IDYearTitleCitations
193595182009The expression level of septin12 is critical for spermiogenesis.32
222751652012SEPT12 mutations cause male infertility with defective sperm annulus.32
255888302015SEPT12 orchestrates the formation of mammalian sperm annulus by organizing core octameric complexes with other SEPT proteins.18
224795032012SEPTIN12 genetic variants confer susceptibility to teratozoospermia.12
216367372012Single-nucleotide polymorphisms in the SEPTIN12 gene may be a genetic risk factor for Japanese patients with Sertoli cell-only syndrome.10
180477942007SEPT12 interacts with SEPT6 and this interaction alters the filament structure of SEPT6 in Hela cells.6
242136082013SEPT12-microtubule complexes are required for sperm head and tail formation.4
278543412016SEPT12-NDC1 Complexes Are Required for Mammalian Spermiogenesis.4
221166462012Single nucleotide polymorphisms in the SEPTIN12 gene may be associated with azoospermia by meiotic arrest in Japanese men.2
304887582019Association of single nucleotide polymorphism c.673C>A/p.Gln225Lys in SEPT12 gene with spermatogenesis failure in male idiopathic infertility in Northeast China.1

Citation

Dessen P

SEPTIN12 (septin 12)

Atlas Genet Cytogenet Oncol Haematol. 2014-01-01

Online version: http://atlasgeneticsoncology.org/gene/53651/septin12