• Gene id: 401548

Gene Summary

• Gene Symbol: SNX30   Gene   UCSC   Ensembl
• Aliases: ATG24A
• Gene name: sorting nexin family member 30
• Alternate names: sorting nexin-30,
• Gene location: 9q32 (112749722: 112875846)     Exons: 13     NC_000009.12

Protein Summary

• Protein general information: Q5VWJ9  
  • Name: Sorting nexin 30
  • Length: 437  
  • Mass: 49677
• Sequence:

  MAGGPPKALPSTGPHSLRDMPHPLAGSSSEEAVGGDSTPSPDLLMARSFGDKDLILPNGGTPAGTSSPASSSSLL
  NRLQLDDDIDGETRDLFVIVDDPKKHVCTMETYITYRITTKSTRVEFDLPEYSVRRRYQDFDWLRSKLEESQPTH
  LIPPLPEKFVVKGVVDRFSEEFVETRRKALDKFLKRITDHPVLSFNEHFNIFLTAKDLNAYKKQGIALLTRMGES
  VKHVTGGYKLRTRPLEFAAIGDYLDTFALKLGTIDRIAQRIIKEEIEYLVELREYGPVYSTWSALEGELAEPLEG
  VSACIGNCSTALEELTDDMTEDFLPVLREYILYSDSMKSVLKKRDQVQAEYEAKLEAVALRKEDRPKVPADVEKC
  QDRMECFNADLKADMERWQNNKRQDFRQLLMGMADKNIQYYEKCLMAWESIIPLLQEKQEAK

• Structural information:
  • Protein Domains: (89..21-)
    (/note="PX-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00147"-)
  • Interpro: IPR027267  IPR001683  IPR036871  IPR028649  
  • Prosite: PS50195
  • STRING: ENSP00000363349
• Other Databases: GeneCards:  SNX30  Malacards:  SNX30

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0035091	phosphatidylinositol binding	IEA	molecular function
GO:0015031	protein transport	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
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