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SEPTIN8 (septin 8)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23176
Gene nameGene Name - the full gene name approved by the HGNC.
Septin 8
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
SEPTIN8
SynonymsGene synonyms aliases
SEP2, SEPT8, Septin-8
ChromosomeChromosome number
5
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q31.1
SummarySummary 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.
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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
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
Sequence
MAATDLERFSNAEPEPRSLSLGGHVGFDSLPDQLVSKSVTQGFSFNILCVGETGIGKSTL
MNTLFNTTFETEEASHHEACVRLRPQTYDLQESNVQLKLTIVDAVGFGDQINKDESYRPI
VDYIDAQFENYLQEELKIRRSLFDYHDTRIHVCLYFITPTGHSLKSLDLVTMKKLDSKVN
IIPIIAKADTISKSELHKFKIKIMGELVSNGVQIYQFPTDDEAVAEINAVMNAHLPFAVV
GSTEEVKVGNKLVRARQYPWGVVQVENENHCDFVKLREMLIRVNMEDLREQTHSRHYELY
RRCKLEEMGFQDSD
GDSQPFSLQETYEAKRKEFLSELQRKEEEMRQMFVNKVKETELELK
EKERELHEKFEHLKRVHQEEKRKVEEKRRELEEETNAFNRRKAAVEALQSQALHATSQQP
LRKDKDKKNRSDIGAHQPGMSLSSSKVMMTKASVEPLNCSSWWPAIQCCSCLVRDATWRE
GFL
Sequence length 483
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
  Bacterial invasion of epithelial cells
Shigellosis
 
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Asthma Asthma, Childhood asthma rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283 30929738
Unknown
Disease name Disease term dbSNP ID References
Respiratory tract diseases Respiratory Tract Diseases 30595370

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