• Gene id: 29934

Gene Summary

• Gene Symbol: SNX12   Gene   UCSC   Ensembl
• Gene name: sorting nexin 12
• Alternate names: sorting nexin-12,
• Gene location: Xq13.1 (71073425: 71059246)     Exons: 5     NC_000023.11
• 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 does not contain a coiled coil region, like
• OMIM: 300883

Protein Summary

• Protein general information: Q9UMY4  
  • Name: Sorting nexin 12
  • Length: 162  
  • Mass: 18885
• Sequence:

  MSDTAVADTRRLNSKPQDLTDAYGPPSNFLEIDIFNPQTVGVGRARFTTYEVRMRTNLPIFKLKESCVRRRYSDF
  EWLKNELERDSKIVVPPLPGKALKRQLPFRGDEGIFEESFIEERRQGLEQFINKIAGHPLAQNERCLHMFLQEEA
  IDRNYVPGKVRQ

• Structural information:
  • Protein Domains: (28..15-)
    (/note="PX-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00147"-)
  • Interpro: IPR001683  IPR036871  
  • Prosite: PS50195
  • PDB: 2CSK
  • PDBsum: 2CSK
  • STRING: ENSP00000481314
• Other Databases: GeneCards:  SNX12  Malacards:  SNX12

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031901	early endosome membrane	IBA	cellular component
GO:0032456	endocytic recycling	IBA	biological process
GO:0033157	regulation of intracellular protein transport	IBA	biological process
GO:0034499	late endosome to Golgi transport	IBA	biological process
GO:0030904	retromer complex	IBA	cellular component
GO:0032266	phosphatidylinositol-3-phosphate binding	IBA	molecular function
GO:0035091	phosphatidylinositol binding	IEA	molecular function
GO:0008289	lipid binding	IEA	molecular function
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:0016020	membrane	IEA	cellular component
GO:2000642	negative regulation of early endosome to late endosome transport	IDA	biological process
GO:0035091	phosphatidylinositol binding	IDA	molecular function
GO:0010955	negative regulation of protein processing	IDA	biological process
GO:0005769	early endosome	IDA	cellular component
GO:0042177	negative regulation of protein catabolic process	IDA	biological process
GO:0051224	negative regulation of protein transport	IDA	biological process
GO:0005769	early endosome	IDA	cellular component
GO:0010629	negative regulation of gene expression	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0030100	regulation of endocytosis	IMP	biological process
GO:0019899	enzyme 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			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