| Tbio | Small nuclear ribonucleoprotein-associated protein N |
May be involved in tissue-specific alternative RNA processing events.
This gene encodes a highly basic protein localized to the nucleus. The evolutionarily constrained open reading frame is found on a bicistronic transcript which has a downstream ORF encoding the small nuclear ribonucleoprotein polypeptide N. The upstream coding region utilizes the first three exons of the transcript, a region that has been identified as an imprinting center. Multiple transcription initiation sites have been identified and extensive alternative splicing occurs in the 5' untranslated region but the full-length nature of these transcripts has not been determined. An alternate exon has been identified that substitutes for exon 4 and leads to a truncated, monocistronic transcript. Alternative splicing or deletion caused by a translocation event in the 5' UTR or coding region of this gene leads to Angelman syndrome or Prader-Willi syndrome due to parental imprint switch failure. The function of this protein is not yet known. [provided by RefSeq, Jul 2008]
This gene encodes a highly basic protein localized to the nucleus. The evolutionarily constrained open reading frame is found on a bicistronic transcript which has a downstream ORF encoding the small nuclear ribonucleoprotein polypeptide N. The upstream coding region utilizes the first three exons of the transcript, a region that has been identified as an imprinting center. Multiple transcription initiation sites have been identified and extensive alternative splicing occurs in the 5' untranslated region but the full-length nature of these transcripts has not been determined. An alternate exon has been identified that substitutes for exon 4 and leads to a truncated, monocistronic transcript. Alternative splicing or deletion caused by a translocation event in the 5' UTR or coding region of this gene leads to Angelman syndrome or Prader-Willi syndrome due to parental imprint switch failure. The function of this protein is not yet known. [provided by RefSeq, Jul 2008]
Comments
Property Summary
| NCBI Gene PubMed Count | 17 |
| Grant Count | 53 |
| R01 Count | 38 |
| Funding | $6,259,926.53 |
| PubMed Score | 44.64 |
| PubTator Score | 7.53 |
| Disease | log2 FC | p |
|---|---|---|
| Multiple myeloma | 1.153 | 0.009 |
| malignant mesothelioma | -6.300 | 0.000 |
| ependymoma | -1.400 | 0.038 |
| glioblastoma | -1.400 | 0.001 |
| atypical teratoid / rhabdoid tumor | -1.200 | 0.000 |
| medulloblastoma, large-cell | -1.500 | 0.000 |
| intraductal papillary-mucinous carcinoma... | -1.700 | 0.003 |
| intraductal papillary-mucinous neoplasm ... | -2.800 | 0.009 |
| lung cancer | 1.200 | 0.000 |
| adult high grade glioma | -1.400 | 0.000 |
| sonic hedgehog group medulloblastoma | -1.100 | 0.000 |
| subependymal giant cell astrocytoma | -1.581 | 0.005 |
| ovarian cancer | -2.100 | 0.000 |
| PMID | Text |
|---|---|
| 22679513 | significant IGF2 hypermethylation (20 +/- 10 vs. 14 +/- 7%; p<0.05) and SNURF hypomethylation (23 +/- 6 vs. 32 6%; p<0.001) was found in Albright's hereditary osteodystrophy patients vs. controls. |
| 21227640 | Differences between genetic subtypes were also statistically significant in Prader Willi syndrome |
| 16116039 | Identification of cis- and trans-acting regulatory elements within the endogenous SNURF-SNRPN locus. |
| 11726556 | The SNURF-SNRPN sense/UBE3A antisense transcription unit spans more than 460 kb. |
| PMID | Year | Title |
|---|---|---|
| 24129315 | 2014 | Immunoaffinity enrichment and mass spectrometry analysis of protein methylation. |
| 22679513 | 2012 | Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction. |
| 21227640 | Behavioral phenotype in adults with Prader-Willi syndrome. | |
| 17207965 | 2007 | hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. |
| 16572171 | 2006 | Analysis of the DNA sequence and duplication history of human chromosome 15. |
| 16344560 | 2006 | Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. |
| 16116039 | 2005 | Characterization of cis- and trans-acting elements in the imprinted human SNURF-SNRPN locus. |
| 15955813 | 2005 | Tudor domains bind symmetrical dimethylated arginines. |
| 15489334 | 2004 | The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |
| 15014980 | 2004 | SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome. |
| More... |
