• Gene id: 23176

Gene Summary

• Gene Symbol: SEPTIN8   Gene   UCSC   Ensembl
• Aliases: SEP2, SEPT8
• Gene name: septin 8
• Alternate names: septin-8,
• Gene location: 5q31.1 (132778215: 132750818)     Exons: 15     NC_000005.10
• Gene summary(Entrez): 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
• OMIM: 605656

Protein Summary

• Protein general information: Q92599  
  • Name: Septin 8
  • Length: 483  
  • Mass: 55756
  • 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:

  MAATDLERFSNAEPEPRSLSLGGHVGFDSLPDQLVSKSVTQGFSFNILCVGETGIGKSTLMNTLFNTTFETEEAS
  HHEACVRLRPQTYDLQESNVQLKLTIVDAVGFGDQINKDESYRPIVDYIDAQFENYLQEELKIRRSLFDYHDTRI
  HVCLYFITPTGHSLKSLDLVTMKKLDSKVNIIPIIAKADTISKSELHKFKIKIMGELVSNGVQIYQFPTDDEAVA
  EINAVMNAHLPFAVVGSTEEVKVGNKLVRARQYPWGVVQVENENHCDFVKLREMLIRVNMEDLREQTHSRHYELY
  RRCKLEEMGFQDSDGDSQPFSLQETYEAKRKEFLSELQRKEEEMRQMFVNKVKETELELKEKERELHEKFEHLKR
  VHQEEKRKVEEKRRELEEETNAFNRRKAAVEALQSQALHATSQQPLRKDKDKKNRSDIGAHQPGMSLSSSKVMMT
  KASVEPLNCSSWWPAIQCCSCLVRDATWREGFL

• Structural information:
  • Protein Domains: (41..30-)
    (/note="Septin-type-G)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01056"-)
  • Interpro: IPR030379  IPR027417  IPR016491  
  • Prosite: PS51719
  • CDD: cd01850
  • STRING: ENSP00000367991
• Other Databases: GeneCards:  SEPTIN8  Malacards:  SEPTIN8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0061640	cytoskeleton-dependent cytokinesis	IBA	biological process
GO:0032153	cell division site	IBA	cellular component
GO:0015630	microtubule cytoskeleton	IBA	cellular component
GO:0005940	septin ring	IBA	cellular component
GO:0003924	GTPase activity	IBA	molecular function
GO:0060090	molecular adaptor activity	IBA	molecular function
GO:0034613	cellular protein localization	IBA	biological process
GO:0031105	septin complex	IBA	cellular component
GO:0035542	regulation of SNARE complex assembly	ISS	biological process
GO:0098793	presynapse	ISS	cellular component
GO:0005525	GTP binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005525	GTP binding	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0045202	synapse	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030424	axon	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0030672	synaptic vesicle membrane	IEA	cellular component
GO:0098793	presynapse	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05131	Shigellosis
hsa05100	Bacterial invasion of epithelial cells

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq