SEPTIN5 (septin 5)

Gene
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5413
Gene name Gene Name - the full gene name approved by the HGNC.
Septin 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SEPTIN5
Synonyms (NCBI Gene) Gene synonyms aliases
CDCREL, CDCREL-1, CDCREL1, H5, HCDCREL-1, PNUTL1, SEPT5, Septin-5
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q11.21
Summary Summary of gene provided in NCBI Entrez Gene.
This gene is a member of the septin gene family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse and appear to regulate cytoskeletal orga
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(27)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003924 Function GTPase activity IBA
GO:0003924 Function GTPase activity TAS 9385360, 21563316
GO:0005198 Function Structural molecule activity TAS 9611266
GO:0005515 Function Protein binding IPI 10321247, 15214843, 16767699, 18330356, 24722188, 25416956, 28514442, 31515488, 32296183, 32814053, 33961781, 35271311
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
602724 9164 ENSG00000184702
Protein
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q99719
Protein name Septin-5 (Cell division control-related protein 1) (CDCrel-1) (Peanut-like protein 1)
Protein function Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential). May play a role in platelet secretion (By similarity).
PDB 6WCU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00735 Septin 41 → 321 Septin Domain
Tissue specificity TISSUE SPECIFICITY: Expressed at high levels in the CNS, as well as in heart and platelets (at protein level). {ECO:0000269|PubMed:12023038, ECO:0000269|PubMed:15915442}.
Sequence
Sequence length 369
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  Parkinson disease
Pathways of neurodegeneration - multiple diseases 		 
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Colorectal Cancer Colorectal cancer N/A N/A GWAS
Coronary artery disease Coronary artery disease N/A N/A GWAS
Ovarian cancer Epithelial ovarian cancer N/A N/A GWAS
Show/Hide Text Mining Associations (10)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 35406633
Autism Spectrum Disorder Associate 31500805
Breast Neoplasms Associate 25287138
DiGeorge Syndrome Associate 25539505
Esophageal Squamous Cell Carcinoma Associate 24936140
Hypoadrenocorticism Familial Stimulate 11078524
Neoplasms Associate 25287138
Parkinson Disease Associate 21731658
Retinitis Associate 17625225
Schizophrenia Associate 25539505, 31500805