SNRPN gene

small nuclear ribonucleoprotein polypeptide N

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene is located within the Prader-Willi Syndrome critical region on chromosome 15 and is imprinted and expressed from the paternal allele. It encodes a component of the small nuclear ribonucleoprotein complex, which functions in pre-mRNA processing and may contribute to tissue-specific alternative splicing. Alternative promoter use and alternative splicing result in a multitude of transcript variants encoding the same protein. Transcript variants that initiate at the CpG island-associated imprinting center may be bicistronic and also encode the SNRPN upstream reading frame protein (SNURF) from an upstream open reading frame. In addition, long spliced transcripts for small nucleolar RNA host gene 14 (SNHG14) may originate from the promoters at this locus. Alterations in this region are associated with parental imprint switch failure, which may cause Angelman syndrome or Prader-Willi syndrome. [provided by RefSeq, Mar 2017]

From UniProt:

May be involved in tissue-specific alternative RNA processing events.

From NCBI Gene:

  • Prader-Willi syndrome
  • Autistic disorder of childhood onset

Cytogenetic Location: 15q11.2, which is the long (q) arm of chromosome 15 at position 11.2

Molecular Location: base pairs 24,823,637 to 24,978,723 on chromosome 15 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 15q11.2, which is the long (q) arm of chromosome 15 at position 11.2
  • HCERN3
  • PWCR
  • RT-LI
  • SM-D
  • sm-N
  • SMN
  • SNRNP-N
  • SNURF-SNRPN