NNAT (neuronatin)

2007-02-01  

Identity

HGNC
LOCATION
20q11.23
LOCUSID
ALIAS
Peg5
FUSION GENES

Other Information

Locus ID:

NCBI: 4826
MIM: 603106
HGNC: 7860
Ensembl: ENSG00000053438

Variants:

dbSNP: 4826
ClinVar: 4826
TCGA: ENSG00000053438
COSMIC: NNAT

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000053438ENST00000346199Q16517
ENSG00000053438ENST00000647955A0A3B3IRP3
ENSG00000053438ENST00000649309A0A3B3ITN5
ENSG00000053438ENST00000649451Q16517
ENSG00000053438ENST00000649697A0A3B3IS74

Expression (GTEx)

0
500
1000
1500
2000
2500
3000

References

Pubmed IDYearTitleCitations
198513072010The imprinted gene neuronatin is regulated by metabolic status and associated with obesity.23
243454742013Integrative DNA methylation and gene expression analysis in high-grade soft tissue sarcomas.20
217420362011Lafora disease ubiquitin ligase malin promotes proteasomal degradation of neuronatin and regulates glycogen synthesis.13
234084342013Neuronatin-mediated aberrant calcium signaling and endoplasmic reticulum stress underlie neuropathology in Lafora disease.13
119609062002Hypermethylation of the imprinted NNAT locus occurs frequently in pediatric acute leukemia.11
187017102008Coexpression of neuronatin splice forms promotes medulloblastoma growth.11
192182802009Loss of neuronatin expression is associated with promoter hypermethylation in pituitary adenoma.11
226240642012Neuronatin in a subset of glioblastoma multiforme tumor progenitor cells is associated with increased cell proliferation and shorter patient survival.11
220223502011Suppression of the imprinted gene NNAT and X-chromosome gene activation in isogenic human iPS cells.9
238256732013Selective methylation of CpGs at regulatory binding sites controls NNAT expression in Wilms tumors.8

Citation

Dessen P

NNAT (neuronatin)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46292/nnat