SEPTIN11 (septin 11)

Gene

• Entrez ID: 55752
• Gene name: Septin 11
• Gene symbol: SEPTIN11
• Synonyms (NCBI Gene): SEPT11, Septin-11
• Chromosome: 4
• Chromosome location: 4q21.1
• Summary: SEPT11 belongs to the conserved septin family of filament-forming cytoskeletal GTPases that are involved in a variety of cellular functions including cytokinesis and vesicle trafficking (Hanai et al., 2004 [PubMed 15196925]; Nagata et al., 2004 [PubMed 15

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001725	Component	Stress fiber	IDA	15485874
GO:0003924	Function	GTPase activity	IBA
GO:0005515	Function	Protein binding	IPI	15485874, 16767699, 18330356, 18443421, 19145258, 30021884, 32296183, 33961781, 35271311
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:0030424	Component	Axon	IEA
GO:0031105	Component	Septin complex	IBA
GO:0031105	Component	Septin complex	IDA	15485874
GO:0031105	Component	Septin complex	ISS
GO:0032153	Component	Cell division site	IBA
GO:0042995	Component	Cell projection	IEA
GO:0043197	Component	Dendritic spine	IEA
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

Other IDs

• MIM: 612887
• HGNC: 25589
• e!Ensembl: ENSG00000138758

Protein

• UniProt ID: Q9NVA2
• Protein name: Septin-11
• Protein function: Filament-forming cytoskeletal GTPase. May play a role in cytokinesis (Potential). May play a role in the cytoarchitecture of neurons, including dendritic arborization and dendritic spines, and in GABAergic synaptic connectivity (By similarity).
• PDB: 6UPQ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00735	Septin	38 → 311	Septin	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed, except in leukocytes. {ECO:0000269|PubMed:15196925, ECO:0000269|PubMed:15915442}.
• Sequence:

  MAVAVGRPSNEELRNLSLSGHVGFDSLPDQLVNKSTSQGFCFNILCVGETGIGKSTLMDT
  LFNTKFESDPATHNEPGVRLKARSYELQESNVRLKLTIVDTVGFGDQINKDDSYKPIVEY
  IDAQFEAYLQEELKIKRSLFNYHDTRIHACLYFIAPTGHSLKSLDLVTMKKLDSKVNIIP
  IIAKADTIAKNELHKFKSKIMSELVSNGVQIYQFPTDEETVAEINATMSVHLPFAVVGST
  EEVKIGNKMAKARQYPWGVVQVENENHCDFVKLREMLIRVNMEDLREQTHTRHYELYRRC
  KLEEMGFKDTDPDSKPFSLQETYEAKRNEFLGELQKKEEEMRQMFVMRVKEKEAELKEAE
  KELHEKFDLLKRTHQEEKKKVEDKKKELEEEVNNFQKKKAAAQLLQSQAQQSGAQQTKKD
  KDKKNASFT

• Sequence length: 429

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
Autosomal recessive cerebellar ataxia	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIFFERENTIATED THYROID CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METHYLMALONIC ACIDEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METHYLMALONIC ACIDURIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAPILLARY THYROID CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	20633769		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	20633769		★☆☆☆☆ Found in Text Mining only
AMYOTROPHY, HEREDITARY NEURALGIC	Hereditary Neuralgic Amyotrophy	BEFREE	17546647		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	21536977		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	20419844	Associate	★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	20633769		★☆☆☆☆ Found in Text Mining only
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	BEFREE	28703219		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	15176487		★☆☆☆☆ Found in Text Mining only
Frontotemporal Lobar Degeneration	Frontotemporal dementia	BEFREE	22126117		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	27866222	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	14999297		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	14999297		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	20419844		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19748670		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	27866222		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	27866222	Associate	★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	20633769		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	PSYGENET_DG	21536977		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid Neoplasms	Thyroid cancer	Pubtator	28703219	Associate	★☆☆☆☆ Found in Text Mining only