Aliases for SNRPN Gene
External Ids for SNRPN Gene
Previous HGNC Symbols for SNRPN Gene
Previous GeneCards Identifiers for SNRPN 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 and share exons with this gene. 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]
GeneCards Summary for SNRPN Gene
SNRPN (Small Nuclear Ribonucleoprotein Polypeptide N) is a Protein Coding gene. Diseases associated with SNRPN include Prader-Willi Syndrome and Autism. Among its related pathways are Gene Expression and mRNA Splicing - Major Pathway. Gene Ontology (GO) annotations related to this gene include RNA binding. An important paralog of this gene is SNRPB.
UniProtKB/Swiss-Prot Summary for SNRPN Gene
May be involved in tissue-specific alternative RNA processing events.