SEPTIN6 (septin 6)

Gene

• Entrez ID: 23157
• Gene name: Septin 6
• Gene symbol: SEPTIN6
• Synonyms (NCBI Gene): SEP2, SEPT2, SEPT6, Septin-6
• Chromosome: X
• Chromosome location: Xq24
• Summary: This gene is a member of the septin family of GTPases. Members of this family are required for cytokinesis. One version of pediatric acute myeloid leukemia is the result of a reciprocal translocation between chromosomes 11 and X, with the breakpoint assoc

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000281	Process	Mitotic cytokinesis	TAS	11809673
GO:0000775	Component	Chromosome, centromeric region	IEA
GO:0000776	Component	Kinetochore	IEA
GO:0003924	Function	GTPase activity	IBA
GO:0005515	Function	Protein binding	IPI	16189514, 17229681, 17637674, 17803907, 18047794, 18330356, 19145258, 24633326, 24722188, 25416956, 25588830, 25775403, 26871637, 30021884, 31515488, 32296183, 32814053, 33961781, 35271311, 35309913
GO:0005525	Function	GTP binding	IEA
GO:0005525	Function	GTP binding	TAS	11809673
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005819	Component	Spindle	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IEA
GO:0005940	Component	Septin ring	IBA
GO:0005940	Component	Septin ring	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0008021	Component	Synaptic vesicle	IEA
GO:0008104	Process	Intracellular protein localization	IBA
GO:0015630	Component	Microtubule cytoskeleton	IBA
GO:0030154	Process	Cell differentiation	IEA
GO:0030496	Component	Midbody	IEA
GO:0031105	Component	Septin complex	IBA
GO:0031105	Component	Septin complex	IDA	25588830
GO:0031105	Component	Septin complex	IEA
GO:0031514	Component	Motile cilium	IEA
GO:0032153	Component	Cell division site	IBA
GO:0032154	Component	Cleavage furrow	IEA
GO:0032173	Component	Septin collar	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043679	Component	Axon terminus	IEA
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	25588830
GO:0098793	Component	Presynapse	IEA

Other IDs

• MIM: 300683
• HGNC: 15848
• e!Ensembl: ENSG00000125354

Protein

• UniProt ID: Q14141
• Protein name: Septin-6
• Protein function: Filament-forming cytoskeletal GTPase. Required for normal organization of the actin cytoskeleton. Involved in cytokinesis. May play a role in HCV RNA replication. Forms a filamentous structure with SEPTIN12, SEPTIN6, SEPTIN2 and probably SEPTIN4
• PDB: 2QAG, 6UPA, 6WBP, 7M6J
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00735	Septin	39 → 312	Septin	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:15915442}.
• Sequence:

  MAATDIARQVGEGCRTVPLAGHVGFDSLPDQLVNKSVSQGFCFNILCVGETGLGKSTLMD
  TLFNTKFEGEPATHTQPGVQLQSNTYDLQESNVRLKLTIVSTVGFGDQINKEDSYKPIVE
  FIDAQFEAYLQEELKIRRVLHTYHDSRIHVCLYFIAPTGHSLKSLDLVTMKKLDSKVNII
  PIIAKADAISKSELTKFKIKITSELVSNGVQIYQFPTDDESVAEINGTMNAHLPFAVIGS
  TEELKIGNKMMRARQYPWGTVQVENEAHCDFVKLREMLIRVNMEDLREQTHTRHYELYRR
  CKLEEMGFKDTDPDSKPFSLQETYEAKRNEFLGELQKKEEEMRQMFVQRVKEKEAELKEA
  EKELHEKFDRLKKLHQDEKKKLEDKKKSLDDEVNAFKQRKTAAELLQSQGSQAGGSQTLK
  RDKEKKNNPWLCTE

• Sequence length: 434

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
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEPTIN6-related disorder	Likely benign	ClinVar	★★☆☆☆ 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	11809673		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	11809673, 12874781, 16682951		★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia (AML-M2)	Leukemia	BEFREE	11477664		★☆☆☆☆ Found in Text Mining only
Acute myelomonocytic leukemia	Myelomonocytic Leukemia	BEFREE	12096348, 14506700		★☆☆☆☆ Found in Text Mining only
Adult Acute Myeloblastic Leukemia	Myeloblastic Leukemia	BEFREE	14506700		★☆☆☆☆ Found in Text Mining only
Aneuploidy	Aneuploidy	Pubtator	34677878	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	30709431		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	29400567		★☆☆☆☆ Found in Text Mining only
Biliary Tract Cancer	Biliary Tract Cancer	BEFREE	27155525, 31402940		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	27557506, 31402940		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33846777	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	31105878		★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	14506700		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31402940		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	31105878		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	30315255		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	18492691, 19748670		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	18492691	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	11809673, 14506700, 14999297, 16682951, 16843108, 18492691, 28751190, 31402940		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	19165576, 25592041		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	19165576		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	27557506, 31402940		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	19165576		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	25519054		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	15761502		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19445675, 19748670, 27155525, 31402940		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	34677878	Associate	★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	34677878	Associate	★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	11809673		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	25519054		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	25519054, 34966246	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	20385374		★☆☆☆☆ Found in Text Mining only
secondary acute myeloid leukemia	Myeloid leukemia	BEFREE	21156246		★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	12095151		★☆☆☆☆ Found in Text Mining only