SNURF - SNRPN upstream open reading frame Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 8926

About SNURF

This gene has 3 transcripts (splice variants) and 117 orthologues.

Summary

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 nuclear ribonucleoprotein polypeptide N) from a downstream open reading frame. The small protein represented by this gene is encoded by an evolutionarily-conserved upstream open reading frame and is localized to the nucleus. Extensive alternative splicing and promoter usage occurs in this region and the full-length nature of some of these transcripts has not been determined. Alterations in the imprinting center are associated with parental imprint switch failure, which may cause Angelman syndrome or Prader-Willi syndrome. [provided by RefSeq, Mar 2017]

SNURF Products (3)

mRNA Protein Name
NM_001394334.1 NP_001381263.1 SNRPN upstream reading frame protein
NM_005678.5 NP_005669.2 SNRPN upstream reading frame protein
NM_022804.3 NP_073715.1 SNRPN upstream reading frame protein
Protein Preferred Names Protein Names

SNRPN upstream reading frame protein

Related Diseases

Diseases Alias
Prader-Willi Syndrome
  • Prader-Labhart-Willi Syndrome

  • PWS

  • Willi-Prader Syndrome

  • Prader-Willi Syndrome Due To Translocation

  • Prader-Willi Syndrome Due To Imprinting Mutation

  • Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15

  • Prader Willi Syndrome

  • Upd(15)Mat

Angelman Syndrome
  • AS

  • Happy Puppet Syndrome

  • Happy Puppet Syndrome, Formerly

  • Puppetlike Syndrome

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus SNURF MGD MGI:1891236
Rattus norvegicus SNURF RGD RGD:69269