Property Summary

NCBI Gene PubMed Count 17
PubMed Score 7.57
PubTator Score 7.53

Knowledge Summary


No data available


  Disease Sources (2)

Disease Target Count Z-score Confidence
Type 2 diabetes mellitus 192 0.0 1.0
Disease Target Count Z-score Confidence
Prader-Willi syndrome 45 5.528 2.8
Angelman syndrome 38 4.867 2.4



Accession Q9Y675 A6NCW2


  Ortholog (3)

Species Source
Chimp OMA Inparanoid
Mouse OMA Inparanoid
Rat OMA Inparanoid

Gene RIF (4)

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.

AA Sequence


Text Mined References (18)

PMID Year Title
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.
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.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11726556 2001 The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A.