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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CONGENITAL IMPAIRMENT OF SPERMATOZOA MOTILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEPTIN12-related disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spermatogenic failure 10	Uncertain significance; Benign; risk factor	ClinVar CTD, ClinVar, Disgenet, HPO CTD, ClinVar, Disgenet, HPO CTD, ClinVar, Disgenet, HPO CTD, ClinVar, Disgenet, HPO	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Asthenozoospermia	Asthenozoospermia	BEFREE	22275165		★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	BEFREE	22116646		★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	Pubtator	22116646, 30488758	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	22479503	Associate	★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	22479503, 30488758	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly Primary Autosomal Recessive 1	Microcephaly	Pubtator	25775403	Associate	★☆☆☆☆ Found in Text Mining only
Non-obstructive azoospermia	Non-obstructive azoospermia	BEFREE	30488758		★☆☆☆☆ Found in Text Mining only
Non-syndromic male infertility due to sperm motility disorder	Non-Syndromic Male Infertility Due To Sperm Motility Disorder	Orphanet			★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	BEFREE	19359518, 27854341		★☆☆☆☆ Found in Text Mining only
SPERMATOGENIC FAILURE 10	Spermatogenic Failure	UNIPROT_DG	22275165, 25588830, 25775403		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SPERMATOGENIC FAILURE 10	Spermatogenic Failure	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SPERMATOGENIC FAILURE 10	Spermatogenic Failure	CTD_human_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Teratozoospermia	Teratozoospermia	BEFREE	22479503, 27854341		★☆☆☆☆ Found in Text Mining only
Teratozoospermia	Teratozoospermia	Pubtator	22479503	Associate	★☆☆☆☆ Found in Text Mining only