SEPTIN12 (septin 12)

Gene

• Entrez ID: 124404
• Gene name: Septin 12
• Gene symbol: SEPTIN12
• Synonyms (NCBI Gene): SEPT12, SPGF10
• Chromosome: 16
• Chromosome location: 16p13.3
• Summary: This gene encodes a guanine-nucleotide binding protein and member of the septin family of cytoskeletal GTPases. Septins play important roles in cytokinesis, exocytosis, embryonic development, and membrane dynamics. Multiple transcript variants encoding di

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs759991	C>G,T	Risk-factor	Synonymous variant, intron variant, coding sequence variant
rs199696526	G>A	Risk-factor	Missense variant, coding sequence variant
rs371195126	C>G,T	Risk-factor	Missense variant, coding sequence variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001725	Component	Stress fiber	ISS
GO:0003924	Function	GTPase activity	IBA
GO:0005515	Function	Protein binding	IPI	18047794, 18443421, 25416956, 25588830, 25775403, 31515488, 32296183, 32814053, 33961781, 35512704
GO:0005525	Function	GTP binding	IDA	18443421
GO:0005525	Function	GTP binding	IEA
GO:0005525	Function	GTP binding	ISS
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005819	Component	Spindle	IDA	18047794
GO:0005819	Component	Spindle	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IEA
GO:0005940	Component	Septin ring	IBA
GO:0007283	Process	Spermatogenesis	IEA
GO:0008104	Process	Intracellular protein localization	IBA
GO:0015630	Component	Microtubule cytoskeleton	IBA
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0019003	Function	GDP binding	ISS
GO:0030154	Process	Cell differentiation	IEA
GO:0030496	Component	Midbody	IDA	18047794
GO:0031105	Component	Septin complex	IBA
GO:0031105	Component	Septin complex	IDA	25588830
GO:0031105	Component	Septin complex	IEA
GO:0031105	Component	Septin complex	ISS
GO:0031514	Component	Motile cilium	IEA
GO:0032153	Component	Cell division site	IBA
GO:0032154	Component	Cleavage furrow	ISS
GO:0035091	Function	Phosphatidylinositol binding	ISS
GO:0042802	Function	Identical protein binding	IPI	25588830
GO:0042803	Function	Protein homodimerization activity	IPI	18443421
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0042995	Component	Cell projection	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	18047794
GO:0051301	Process	Cell division	IEA
GO:0060090	Function	Molecular adaptor activity	IBA
GO:0061640	Process	Cytoskeleton-dependent cytokinesis	IBA
GO:0097227	Component	Sperm annulus	IDA	22275165

Other IDs

• MIM: 611562
• HGNC: 26348
• e!Ensembl: ENSG00000140623

Protein

• UniProt ID: Q8IYM1
• Protein name: Septin-12
• Protein function: Filament-forming cytoskeletal GTPase (By similarity). Involved in spermatogenesis. Involved in the morphogenesis of sperm heads and the elongation of sperm tails probably implicating the association with alpha- and beta-tubulins (PubMed:24213608
• PDB: 6MQ9, 6MQB, 6MQK, 6MQL
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00735	Septin	46 → 323	Septin	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. Expressed in lymph node. {ECO:0000269|PubMed:15915442, ECO:0000269|PubMed:17967425}.
• Sequence:

  MDPLRRSPSPCLSSQPSSPSTPPCEMLGPVGIEAVLDQLKIKAMKMGFEFNIMVVGQSGL
  GKSTMVNTLFKSKVWKSNPPGLGVPTPQTLQLHSLTHVIEEKGVKLKLTVTDTPGFGDQI
  NNDNCWDPILGYINEQYEQYLQEEILITRQRHIPDTRVHCCVYFVPPTGHCLRPLDIEFL
  QRLCRTVNVVPVIARADSLTMEEREAFRRRIQQNLRTHCIDVYPQMCFDEDINDKILNSK
  LRDRIPFAVVGADQEHLVNGRCVLGRKTKWGIIEVENMAHCEFPLLRDLLIRSHLQDLKD
  ITHNIHYENYRVIRLNESHLLPRGPGWVNLAPASPGQLTTPRTFKVCRGAHDDSDDEF

• Sequence length: 358

Pathways

KEGG:

Bacterial invasion of epithelial cells
Shigellosis

Associated diseases

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
SEPTIN12-related disorder	Likely benign	rs147729577, rs574562030, rs138628476	RCV003909355 RCV003924171 RCV003954596
Spermatogenic failure 10	Uncertain significance; Benign; risk factor	rs61734736, rs1567554898, rs759991, rs199696526, rs371195126	RCV005393791 RCV003993638 RCV000030755 RCV000030756 RCV000030757

Associations from Text Mining
Disease Name	Relationship Type	References
Azoospermia	Associate	22116646, 30488758
Congenital Abnormalities	Associate	22479503
Infertility Male	Associate	22479503, 30488758
Microcephaly Primary Autosomal Recessive 1	Associate	25775403
Renal Insufficiency	Associate	30488758
Teratozoospermia	Associate	22479503