Property Summary

NCBI Gene PubMed Count 1
PubMed Score 0.00
PubTator Score 2.08

Knowledge Summary

Patent

No data available

Synonym

Accession Q8IVG9
Symbols MTRNR2

Gene

PDB

1Y32   2GD3   5GIW  

Gene RIF (18)

PMID Text
26349026 highly disruptive 16S rRNA mutations are present in clinical samples
26343273 Data show methylation status of two mitochondrial genes MT-RNR1 and MT-RNR2 encoding for mitochondrial 12S and 16S ribosomal RNAs, respectively.
24770403 Mitochondrial gene mutations may cause late-onset, progressive, and ski-sloping sensorineural hearing loss.
24367055 This study reports a mitochondrial 16S rRNA 2336T>C mutation that is associated with maternally inherited hypertrophic cardiomyopathy combined with atrioventricular block.
20128730 Observational study of genetic testing. (HuGE Navigator)
19920115 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19147801 Observational study of gene-disease association. (HuGE Navigator)
19050702 Observational study of gene-disease association. (HuGE Navigator)
18796524 Results show that the mitochondrial 16S rRNA T414G mutation does not cause per se any detectable bioenergetic changes.
17761147 analysis of novel de novo mutation in the 16S ribosomal RNA, a nucleotide which is highly conserved in different species, that may impair mitochondrial protein synthesis and would cause a severe myopathy
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AA Sequence

MAPRGFSCLLLLTSEIDLPVKRRA                                                    1 - 24
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Text Mined References (12)

PMID Year Title
26349026 2015 The presence of highly disruptive 16S rRNA mutations in clinical samples indicates a wider role for mutations of the mitochondrial ribosome in human disease.
19477263 2009 Evidence for potential functionality of nuclearly-encoded humanin isoforms.
16945331 2006 Solution structure of Ser14Gly-humanin, a potent rescue factor against neuronal cell death in Alzheimer's disease.
15721287 2005 Solution structure of humanin, a peptide against Alzheimer's disease-related neurotoxicity.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15153530 2004 Humanin, a newly identified neuroprotective factor, uses the G protein-coupled formylpeptide receptor-like-1 as a functional receptor.
14561895 2003 Interaction between the Alzheimer's survival peptide humanin and insulin-like growth factor-binding protein 3 regulates cell survival and apoptosis.
12732850 2003 Humanin peptide suppresses apoptosis by interfering with Bax activation.
12670303 2003 A tripartite motif protein TRIM11 binds and destabilizes Humanin, a neuroprotective peptide against Alzheimer's disease-relevant insults.
12009529 2002 Evidence for in vivo production of Humanin peptide, a neuroprotective factor against Alzheimer's disease-related insults.
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