• Gene id: 58533

Gene Summary

• Gene Symbol: SNX6   Gene   UCSC   Ensembl
• Aliases: MSTP010, TFAF2
• Gene name: sorting nexin 6
• Alternate names: sorting nexin-6, TRAF4-associated factor 2, tumor necrosis factor receptor-associated factor 4(TRAF4)-associated factor 2,
• Gene location: 14q13.1 (34630147: 34561092)     Exons: 14     NC_000014.9
• Gene summary(Entrez): This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein associates with the long isoform of the lept
• OMIM: 606098

Protein Summary

• Protein general information: Q9UNH7  
  • Name: Sorting nexin 6 (TRAF4 associated factor 2) [Cleaved into: Sorting nexin 6, N terminally processed]
  • Length: 406  
  • Mass: 46649
• Sequence:

  MMEGLDDGPDFLSEEDRGLKAINVDLQSDAALQVDISDALSERDKVKFTVHTKSSLPNFKQNEFSVVRQHEEFIW
  LHDSFVENEDYAGYIIPPAPPRPDFDASREKLQKLGEGEGSMTKEEFTKMKQELEAEYLAIFKKTVAMHEVFLCR
  VAAHPILRRDLNFHVFLEYNQDLSVRGKNKKEKLEDFFKNMVKSADGVIVSGVKDVDDFFEHERTFLLEYHNRVK
  DASAKSDRMTRSHKSAADDYNRIGSSLYALGTQDSTDICKFFLKVSELFDKTRKIEARVSADEDLKLSDLLKYYL
  RESQAAKDLLYRRSRSLVDYENANKALDKARAKNKDVLQAETSQQLCCQKFEKISESAKQELIDFKTRRVAAFRK
  NLVELAELELKHAKGNLQLLQNCLAVLNGDT

• Structural information:
  • Protein Domains: (26..17-)
    (/note="PX-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00147-)
    (203..40-)
    (/note="BAR-)
    (/evidence="ECO:0000305"-)
  • Interpro: IPR027267  IPR001683  IPR036871  IPR042136  IPR014637   IPR028657  IPR015404  
  • Prosite: PS50195
  • CDD: cd07292
  • DIP: 37549
  • STRING: ENSP00000355217
• Other Databases: GeneCards:  SNX6  Malacards:  SNX6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1904646	cellular response to amyloid-beta	IGI	biological process
GO:0043524	negative regulation of neuron apoptotic process	IGI	biological process
GO:0016241	regulation of macroautophagy	NAS	biological process
GO:0030905	retromer, tubulation complex	NAS	cellular component
GO:0042147	retrograde transport, endosome to Golgi	NAS	biological process
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0005737	cytoplasm	IDA	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:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	IDA	biological process
GO:0005768	endosome	IBA	cellular component
GO:0034452	dynactin binding	IBA	molecular function
GO:0042147	retrograde transport, endosome to Golgi	IBA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0031901	early endosome membrane	IDA	cellular component
GO:0034452	dynactin binding	IDA	molecular function
GO:0097422	tubular endosome	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0030904	retromer complex	IDA	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:0042147	retrograde transport, endosome to Golgi	IMP	biological process
GO:0006886	intracellular protein transport	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:0006886	intracellular protein transport	IEA	biological process
GO:0035091	phosphatidylinositol binding	IEA	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0008289	lipid binding	IEA	molecular function
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0015031	protein transport	IEA	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: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:0031901	early endosome membrane	IEA	cellular component
GO:0005769	early endosome	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0006886	intracellular protein transport	NAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007175	negative regulation of epidermal growth factor-activated receptor activity	NAS	biological process
GO:1903593	regulation of histamine secretion by mast cell	IMP	NOT|biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881