SEPTIN7 (septin 7)

Gene

• Entrez ID: 989
• Gene name: Septin 7
• Gene symbol: SEPTIN7
• Synonyms (NCBI Gene): CDC10, CDC3, NBLA02942, SEPT7, SEPT7A, Septin-7
• Chromosome: 7
• Chromosome location: 7p14.2
• Summary: This gene encodes a protein that is highly similar to the CDC10 protein of Saccharomyces cerevisiae. The protein also shares similarity with Diff 6 of Drosophila and with H5 of mouse. Each of these similar proteins, including the yeast CDC10, contains a G

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000775	Component	Chromosome, centromeric region	IEA
GO:0000776	Component	Kinetochore	IEA
GO:0001725	Component	Stress fiber	IDA	15485874
GO:0003924	Function	GTPase activity	IBA
GO:0005198	Function	Structural molecule activity	TAS	8037772
GO:0005515	Function	Protein binding	IPI	11584266, 15485874, 17637674, 17685441, 18330356, 19145258, 24633326, 25416956, 25588830, 30021884, 31515488, 32814053, 33961781, 35271311
GO:0005525	Function	GTP binding	IEA
GO:0005525	Function	GTP binding	TAS	8037772
GO:0005634	Component	Nucleus	IDA	15485874
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005819	Component	Spindle	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IEA
GO:0005930	Component	Axoneme	IDA	23572511
GO:0005930	Component	Axoneme	ISS
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:0016324	Component	Apical plasma membrane	ISS
GO:0016476	Process	Regulation of embryonic cell shape	ISS
GO:0030154	Process	Cell differentiation	IEA
GO:0030496	Component	Midbody	IEA
GO:0031105	Component	Septin complex	IBA
GO:0031105	Component	Septin complex	IDA	15485874, 23572511, 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:0042802	Function	Identical protein binding	IPI	22064074
GO:0042995	Component	Cell projection	IEA
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0051301	Process	Cell division	IEA
GO:0060090	Function	Molecular adaptor activity	IBA
GO:0060271	Process	Cilium assembly	ISS
GO:0061640	Process	Cytoskeleton-dependent cytokinesis	IBA
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0097227	Component	Sperm annulus	IDA	25588830
GO:0097730	Component	Non-motile cilium	IDA	23572511
GO:1902857	Process	Positive regulation of non-motile cilium assembly	IMP	23572511

Other IDs

• MIM: 603151
• HGNC: 1717
• e!Ensembl: ENSG00000122545

Protein

• UniProt ID: Q16181
• Protein name: Septin-7 (CDC10 protein homolog)
• Protein function: Filament-forming cytoskeletal GTPase. Required for normal organization of the actin cytoskeleton. Required for normal progress through mitosis. Involved in cytokinesis. Required for normal association of CENPE with the kinetochore. Plays a role
• PDB: 2QAG, 3T5D, 3TW4, 6N0B, 6N12, 6UQQ, 7M6J, 8SJJ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00735	Septin	47 → 323	Septin	Domain

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

  MSVSARSAAAEERSVNSSTMVAQQKNLEGYVGFANLPNQVYRKSVKRGFEFTLMVVGESG
  LGKSTLINSLFLTDLYSPEYPGPSHRIKKTVQVEQSKVLIKEGGVQLLLTIVDTPGFGDA
  VDNSNCWQPVIDYIDSKFEDYLNAESRVNRRQMPDNRVQCCLYFIAPSGHGLKPLDIEFM
  KRLHEKVNIIPLIAKADTLTPEECQQFKKQIMKEIQEHKIKIYEFPETDDEEENKLVKKI
  KDRLPLAVVGSNTIIEVNGKRVRGRQYPWGVAEVENGEHCDFTILRNMLIRTHMQDLKDV
  TNNVHYENYRSRKLAAVTYNGVDNNKNKGQLTKSPLAQMEEERREHVAKMKKMEMEMEQV
  FEMKVKEKVQKLKDSEAELQRRHEQMKKNLEAQHKELEEKRRQFEDEKANWEAQQRILEQ
  QNSSRTLEKNKKKGKIF

• Sequence length: 437

Pathways

KEGG:

Shigellosis

Reactome:

MAPK6/MAPK4 signaling

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
ENDOMETRIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SMALL CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	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
Asthenozoospermia	Asthenozoospermia	Pubtator	25301271	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	23383034	Inhibit	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	27557506		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	27557506	Associate	★☆☆☆☆ Found in Text Mining only
Bulbo-Spinal Atrophy, X-Linked	Bulbospinal Atrophy, X-Linked	BEFREE	29777035		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	23383034	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal Breast	Ductal carcinoma of breast	Pubtator	32156290	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	32156290	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	27144525	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29956073		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	38636185	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	30361092		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	20035367, 23383034, 24604520		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	20035367, 23383034, 24604520		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	18543212		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	19916744, 20035367, 23383034, 26846171		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	23383034	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	27557506	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	10485469		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	24854842		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	27557506		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29956073		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	29777035		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20035367, 23383034, 24604520		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	23383034	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	31257500		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	29056570		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	Pubtator	28877062	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma, Spindle Cell	Sarcoma	BEFREE	28877062		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	20385374		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	20385374, 21772061		★★☆☆☆ Found in Text Mining + Unknown/Other Associations