RNR2 (RNA, ribosomal 45S cluster 2)

2018-07-01  

Identity

HGNC
LOCATION
14p12
LOCUSID
ALIAS
-

Other Information

Locus ID:

NCBI: 4550
MIM: 561010
HGNC: 7471

Variants:

dbSNP: 4550
ClinVar: 4550
COSMIC: RNR2

Pathways

PathwaySourceExternal ID
RibosomeKEGGko03010
RibosomeKEGGhsa03010
Ribosome biogenesis in eukaryotesKEGGko03008
Ribosome biogenesis in eukaryotesKEGGhsa03008

References

Pubmed IDYearTitleCitations
113716462001A rescue factor abolishing neuronal cell death by a wide spectrum of familial Alzheimer's disease genes and Abeta.141
191478012009Mitochondrial DNA and gastrointestinal motor and sensory functions in health and functional gastrointestinal disorders.18
168843812006Mitochondrial polymorphisms as risk factors for endometrial cancer in southwest China.16
166395042006Humanin expression in skeletal muscles of patients with chronic progressive external ophthalmoplegia.14
243670552014The novel mitochondrial 16S rRNA 2336T>C mutation is associated with hypertrophic cardiomyopathy.14
190507022008Comprehensive analysis of common mitochondrial DNA variants and colorectal cancer risk.12
156222432005Identification of a novel mitochondrial mutation in Dupuytren's disease using multiplex DHPLC.9
187965242008Cosegregation of novel mitochondrial 16S rRNA gene mutations with the age-associated T414G variant in human cybrids.8
157212872005Solution structure of humanin, a peptide against Alzheimer's disease-related neurotoxicity.7
177611472007A novel mutation 3090 G>A of the mitochondrial 16S ribosomal RNA associated with myopathy.7

Citation

Dessen P

RNR2 (RNA, ribosomal 45S cluster 2)

Atlas Genet Cytogenet Oncol Haematol. 2018-07-01

Online version: http://atlasgeneticsoncology.org/gene/57463/rnr2