SEPTIN11 (septin 11)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 55752
Gene name Septin 11
Gene symbol SEPTIN11
Synonyms (NCBI Gene)
SEPT11Septin-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) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (21)
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
612887 25589 ENSG00000138758
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Sequence length 429
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Bacterial invasion of epithelial cells
Shigellosis 		 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal recessive cerebellar ataxia Uncertain significance rs2109948029 RCV001353169
Show/Hide Text Mining Associations (5)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Hepatocellular Associate 20419844
Insulin Resistance Associate 27866222
Obesity Associate 27866222
Retinitis Associate 17625225
Thyroid Neoplasms Associate 28703219