SEPTIN3 (septin 3)

Gene

• Entrez ID: 55964
• Gene name: Septin 3
• Gene symbol: SEPTIN3
• Synonyms (NCBI Gene): SEP3, SEPT3, bK250D10.3
• Chromosome: 22
• Chromosome location: 22q13.2
• Summary: This gene belongs to the septin family of GTPases. Members of this family are required for cytokinesis. Expression is upregulated by retinoic acid in a human teratocarcinoma cell line. The specific function of this gene has not been determined. Alternativ

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003924	Function	GTPase activity	IBA
GO:0005515	Function	Protein binding	IPI	25416956, 31515488, 32296183, 33961781, 35271311, 35932293
GO:0005525	Function	GTP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005940	Component	Septin ring	IBA
GO:0008104	Process	Intracellular protein localization	IBA
GO:0015630	Component	Microtubule cytoskeleton	IBA
GO:0031105	Component	Septin complex	IBA
GO:0031105	Component	Septin complex	ISS
GO:0032153	Component	Cell division site	IBA
GO:0042802	Function	Identical protein binding	IPI	25416956, 32296183
GO:0045202	Component	Synapse	IEA
GO:0051301	Process	Cell division	IEA
GO:0060090	Function	Molecular adaptor activity	IBA
GO:0061640	Process	Cytoskeleton-dependent cytokinesis	IBA
GO:0098793	Component	Presynapse	ISS

Other IDs

• MIM: 608314
• HGNC: 10750
• e!Ensembl: ENSG00000100167

Protein

• UniProt ID: Q9UH03
• Protein name: Neuronal-specific septin-3
• Protein function: Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential).
• PDB: 3SOP, 4Z51, 4Z54, 6UQQ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00735	Septin	58 → 335	Septin	Domain

• Tissue specificity: TISSUE SPECIFICITY: Brain-specific. {ECO:0000269|PubMed:11322766, ECO:0000269|PubMed:15915442}.
• Sequence:

  MSKGLPETRTDAAMSELVPEPRPKPAVPMKPMSINSNLLGYIGIDTIIEQMRKKTMKTGF
  DFNIMVVGQSGLGKSTLVNTLFKSQVSRKASSWNREEKIPKTVEIKAIGHVIEEGGVKMK
  LTVIDTPGFGDQINNENCWEPIEKYINEQYEKFLKEEVNIARKKRIPDTRVHCCLYFISP
  TGHSLRPLDLEFMKHLSKVVNIIPVIAKADTMTLEEKSEFKQRVRKELEVNGIEFYPQKE
  FDEDLEDKTENDKIRQESMPFAVVGSDKEYQVNGKRVLGRKTPWGIIEVENLNHCEFALL
  RDFVIRTHLQDLKEVTHNIHYETYRAKRLNDNGGLPPGEGLLGTVLPPVPATPCPTAE

• 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
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	15200238	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	34646403	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	26208994		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	37934565	Associate	★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	31786121		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	15140406	Associate	★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	31786121		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	31786121		★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	31786121		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 2	Spinocerebellar Ataxia	BEFREE	24657153		★☆☆☆☆ Found in Text Mining only