• Gene id: 8926

Gene Summary

• Gene Symbol: SNURF   Gene   UCSC   Ensembl
• Gene name: SNRPN upstream reading frame
• Alternate names: SNRPN upstream reading frame protein,
• Gene location: 15q11.2 (24954892: 24978722)     Exons: 2     NC_000015.10
• Gene summary(Entrez): This gene is located within the Prader-Willi Syndrome critical region on chromosome 15. Transcripts produced from this gene initiate at an imprinting center and are paternally-imprinted. These transcripts may be bicistronic and also encode SNRPN (small nu

Protein Summary

• Protein general information: Q9Y675  
  • Name: SNRPN upstream reading frame protein
  • Length: 71  
  • Mass: 8412
  • Tissue specificity: Expressed in heart, skeletal muscle and lymphoblasts (at protein level). Expressed in brain, pancreas, heart, liver, lung, kidney and skeletal muscle. {ECO
• Sequence:

  MERARDRLHLRRTTEQHVPEVEVQVKRRRTASLSNQECQLYPRRSQQQQVPVVDFQAELRQAFLAETPRGG

• Structural information:
  • Interpro: IPR009847  
  • STRING: ENSP00000463201
• Other Databases: GeneCards:  SNURF  Malacards:  SNURF

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016607	nuclear speck	IBA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0005634	nucleus	NAS	cellular component
GO:0003674	molecular_function	ND	molecular function
GO:0008150	biological_process	ND	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 21412036
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21412036	Cryptorchidism			23 (4 controls, 19 cases)	Male infertility	GSE25518 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)