SEPTIN8 (septin 8)

Gene
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23176
Gene name Gene Name - the full gene name approved by the HGNC.
Septin 8
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SEPTIN8
Synonyms (NCBI Gene) Gene synonyms aliases
SEP2, SEPT8, Septin-8
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q31.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene is a member of the septin 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 organiza
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(14)
GO ID Ontology Definition Evidence Reference
GO:0003924 Function GTPase activity IBA 21873635
GO:0005515 Function Protein binding IPI 15214843, 16767699, 17685441
GO:0005525 Function GTP binding IEA
GO:0005940 Component Septin ring IBA 21873635
GO:0015630 Component Microtubule cytoskeleton IBA 21873635
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
608418 16511 ENSG00000164402
Protein
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q92599
Protein name Septin-8
Protein function Filament-forming cytoskeletal GTPase (By similarity). May play a role in platelet secretion (PubMed:15116257). Seems to participate in the process of SNARE complex formation in synaptic vesicles (By similarity). {ECO:0000250, ECO:0000250|UniProt
PDB 6UPR , 6WSM
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00735 Septin 41 → 314 Septin Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed, including in brain, heart and platelets; most abundant in aorta. Isoform 2 is expressed at low levels in specific brain areas, such as occipital pole, frontal lobe, temporal lobe and putamen. Isoform 1 and 3 are highl
Sequence 
MAATDLERFSNAEPEPRSLSLGGHVGFDSLPDQLVSKSVTQGFSFNILCVGETGIGKSTL
MNTLFNTTFETEEASHHEACVRLRPQTYDLQESNVQLKLTIVDAVGFGDQINKDESYRPI
VDYIDAQFENYLQEELKIRRSLFDYHDTRIHVCLYFITPTGHSLKSLDLVTMKKLDSKVN
IIPIIAKADTISKSELHKFKIKIMGELVSNGVQIYQFPTDDEAVAEINAVMNAHLPFAVV
GSTEEVKVGNKLVRARQYPWGVVQVENENHCDFVKLREMLIRVNMEDLREQTHSRHYELY
RRCKLEEMGFQDSDGDSQPFSLQETYEAKRKEFLSELQRKEEEMRQMFVNKVKETELELK
EKERELHEKFEHLKRVHQEEKRKVEEKRRELEEETNAFNRRKAAVEALQSQALHATSQQP
LRKDKDKKNRSDIGAHQPGMSLSSSKVMMTKASVEPLNCSSWWPAIQCCSCLVRDATWRE
GFL
Sequence length 483
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 information provided by ClinVar, GenCC, and GWAS databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (2)
Unknown
Disease term Disease name Evidence References Source
Asthma Asthma, Childhood asthma 30929738 ClinVar, GWAS
Psoriasis Psoriasis GWAS
Show/Hide Text Mining Associations (6)
Associations from Text Mining
Disease Name Relationship Type References
Epiretinal Membrane Associate 17625225
Glomerulonephritis Membranous Associate 17625225
Pulmonary Disease Chronic Obstructive Associate 33658578
Retinitis Associate 17625225
Sarcoidosis Associate 23543185
Vitreoretinopathy Proliferative Associate 17625225