• Gene id: 11267

Gene Summary

• Gene Symbol: SNF8   Gene   UCSC   Ensembl
• Aliases: Dot3, EAP30, VPS22
• Gene name: SNF8 subunit of ESCRT-II
• Alternate names: vacuolar-sorting protein SNF8, EAP30 subunit of ELL complex, ELL-associated protein of 30 kDa, ESCRT-II complex subunit VPS22, SNF8, ESCRT-II complex subunit, homolog,
• Gene location: 17q21.32 (48944841: 48929315)     Exons: 10     NC_000017.11
• Gene summary(Entrez): The protein encoded by this gene is a component of the endosomal sorting complex required for transport II (ESCRT-II), which regulates the movement of ubiquitinylated transmembrane proteins to the lysosome for degradation. This complex also interacts with
• OMIM: 610904

Protein Summary

• Protein general information: Q96H20  
  • Name: Vacuolar sorting protein SNF8 (ELL associated protein of 30 kDa) (ESCRT II complex subunit VPS22) (hVps22)
  • Length: 258  
  • Mass: 28864
• Sequence:

  MHRRGVGAGAIAKKKLAEAKYKERGTVLAEDQLAQMSKQLDMFKTNLEEFASKHKQEIRKNPEFRVQFQDMCATI
  GVDPLASGKGFWSEMLGVGDFYYELGVQIIEVCLALKHRNGGLITLEELHQQVLKGRGKFAQDVSQDDLIRAIKK
  LKALGTGFGIIPVGGTYLIQSVPAELNMDHTVVLQLAEKNGYVTVSEIKASLKWETERARQVLEHLLKEGLAWLD
  LQAPGEAHYWLPALFTDLYSQEITAEEAREALP

• Structural information:
  • Interpro: IPR016689  IPR040608  IPR036388  IPR036390  
  • PDB: 2ZME 3CUQ
  • PDBsum: 2ZME 3CUQ
  • STRING: ENSP00000421380
• Other Databases: GeneCards:  SNF8  Malacards:  SNF8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0071985	multivesicular body sorting pathway	TAS	biological process
GO:0036258	multivesicular body assembly	TAS	biological process
GO:0000814	ESCRT II complex	TAS	cellular component
GO:0000814	ESCRT II complex	TAS	cellular component
GO:0016236	macroautophagy	TAS	biological process
GO:0000814	ESCRT II complex	IBA	cellular component
GO:0043328	protein transport to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	IBA	biological process
GO:0071985	multivesicular body sorting pathway	IEA	biological process
GO:0000814	ESCRT II complex	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006357	regulation of transcription by RNA polymerase II	TAS	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IDA	biological process
GO:0008134	transcription factor binding	IDA	molecular function
GO:0005667	transcription regulator complex	IDA	cellular component
GO:0016197	endosomal transport	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0031902	late endosome membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0010008	endosome membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0000814	ESCRT II complex	IDA	cellular component
GO:0010008	endosome membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0031902	late endosome membrane	IDA	cellular component
GO:0016247	channel regulator activity	IDA	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0055037	recycling endosome	IDA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:1903543	positive regulation of exosomal secretion	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0047485	protein N-terminus binding	IPI	molecular function
GO:1903772	regulation of viral budding via host ESCRT complex	IMP	biological process
GO:0010797	regulation of multivesicular body size involved in endosome transport	IMP	biological process
GO:0008022	protein C-terminus binding	IPI	molecular function
GO:0045732	positive regulation of protein catabolic process	IMP	biological process
GO:0010628	positive regulation of gene expression	IMP	biological process
GO:0061635	regulation of protein complex stability	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043405	regulation of MAP kinase activity	IMP	NOT|biological process
GO:0042176	regulation of protein catabolic process	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0047485	protein N-terminus binding	IPI	molecular function
GO:0045022	early endosome to late endosome transport	IMP	biological process
GO:0032456	endocytic recycling	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

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)