• Gene id: 399979

Gene Summary

• Gene Symbol: SNX19   Gene   UCSC   Ensembl
• Aliases: CHET8
• Gene name: sorting nexin 19
• Alternate names: sorting nexin-19,
• Gene location: 11q24.3 (130916487: 130866259)     Exons: 17     NC_000011.10
• Gene summary(Entrez): Islet antigen-2 (IA-2) is an autoantigen in type 1 diabetes and plays a role in insulin secretion. IA-2 is found in dense-core secretory vesicles and interacts with the product of this gene, a sorting nexin. In mouse pancreatic beta-cells, the encoded pro

Protein Summary

• Protein general information: Q92543  
  • Name: Sorting nexin 19
  • Length: 992  
  • Mass: 108598
• Sequence:

  MKTETVPPFQETPAGSSCHLNNLLSSRKLMAVGVLLGWLLVIHLLVNVWLLCLLSALLVVLGGWLGSSLAGVASG
  RLHLERFIPLATCPPCPEAERQLEREINRTIQMIIRDFVLSWYRSVSQEPAFEEEMEAAMKGLVQELRRRMSVMD
  SHAVAQSVLTLCGCHLQSYIQAKEATAGKNGPVEPSHLWEAYCRATAPHPAVHSPSAEVTYTRGVVNLLLQGLVP
  KPHLETRTGRHVVVELITCNVILPLISRLSDPDWIHLVLVGIFSKARDPAPCPASAPEQPSVPTSLPLIAEVEQL
  PEGRASPVAAPVFLSYSEPEGSAGPSPEVEEGHEAVEGDLGGMCEERKVGNNSSHFLQPNVRGPLFLCEDSELES
  PLSELGKETIMLMTPGSFLSDRIQDALCALESSQALEPKDGEASEGAEAEEGPGTETETGLPVSTLNSCPEIHID
  TADKEIEQGDVTASVTALLEGPEKTCPSRPSCLEKDLTNDVSSLDPTLPPVLLSSSPPGPLSSATFSFEPLSSPD
  GPVIIQNLRITGTITAREHSGTGFHPYTLYTVKYETALDGENSSGLQQLAYHTVNRRYREFLNLQTRLEEKPDLR
  KFIKNVKGPKKLFPDLPLGNMDSDRVEARKSLLESFLKQLCAIPEIANSEEVQEFLALNTDARIAFVKKPFMVSR
  IDKMVVSAIVDTLKTAFPRSEPQSPTEELSEAETESKPQTEGKKASKSRLRFSSSKISPALSVTEAQDKILYCLQ
  EGNVESETLSMSAMESFIEKQTKLLEMQPTKAPEKDPEQPPKGRVDSCVSDAAVPAQDPSNSDPGTETELADTAL
  DLLLLLLTEQWKWLCTENMQKFLRLIFGTLVQRWLEVQVANLTSPQRWVQYLLLLQESIWPGGVLPKFPRPVRTQ
  EQKLAAEKQALQSLMGVLPDLVVEILGVNKCRLSWGLVLESLQQPLINRHLIYCLGDIILEFLDLSASVEESAAT
  TSASDTPGNSKRMGVSS

• Structural information:
  • Protein Domains: (95..27-)
    (/note="PXA-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00147,-ECO:0000255|PROSITE-ProRule:PRU00553)
    (533..66-)
    (/note="PX-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00147"-)
  • Interpro: IPR001683  IPR003114  IPR036871  IPR034908  IPR037909   IPR013937  
  • Prosite: PS50195 PS51207
  • CDD: cd06893
  • STRING: ENSP00000265909
• Other Databases: GeneCards:  SNX19  Malacards:  SNX19

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0035091	phosphatidylinositol binding	IEA	molecular function
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0008289	lipid binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0006887	exocytosis	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0030073	insulin secretion	IEA	biological process
GO:0031901	early endosome membrane	IEA	cellular component
GO:1990502	dense core granule maturation	IEA	biological process
GO:0002062	chondrocyte differentiation	IEA	biological process
GO:0032266	phosphatidylinositol-3-phosphate binding	IEA	molecular function
GO:0031901	early endosome membrane	IEA	cellular component
GO:0030659	cytoplasmic vesicle membrane	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:1990502	dense core granule maturation	IGI	biological process
GO:0030073	insulin secretion	IGI	biological process
GO:0002062	chondrocyte differentiation	IMP	biological process

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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881