Property Summary

NCBI Gene PubMed Count 18
PubMed Score 68.37
PubTator Score 20.47

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q5T160 B2RDT7 Q96FU5 Q9H8K8
Symbols PCH6
ArgRS
RARSL
DALRD2
PRO1992

Gene

Gene RIF (4)

PMID Text
25809939 Mutations in the RARS2 promoter are likely to represent a new causal mechanism of pontocerebellar hypoplasia.
22569581 Molecular investigations of RARS2 disclosed the c.25A>G/p.I9V and the c.1586+3A>T in family A.
22086604 mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2, may have a role in pontocerebellar hypoplasia type 6 [case report]
20877624 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MACGFRRAIACQLSRVLNLPPENLITSISAVPISQKEEVADFQLSVDSLLEKDNDHSRPDIQVQAKRLAE      1 - 70
KLRCDTVVSEISTGQRTVNFKINRELLTKTVLQQVIEDGSKYGLKSELFSGLPQKKIVVEFSSPNVAKKF     71 - 140
HVGHLRSTIIGNFIANLKEALGHQVIRINYLGDWGMQFGLLGTGFQLFGYEEKLQSNPLQHLFEVYVQVN    141 - 210
KEAADDKSVAKAAQEFFQRLELGDVQALSLWQKFRDLSIEEYIRVYKRLGVYFDEYSGESFYREKSQEVL    211 - 280
KLLESKGLLLKTIKGTAVVDLSGNGDPSSICTVMRSDGTSLYATRDLAAAIDRMDKYNFDTMIYVTDKGQ    281 - 350
KKHFQQVFQMLKIMGYDWAERCQHVPFGVVQGMKTRRGDVTFLEDVLNEIQLRMLQNMASIKTTKELKNP    351 - 420
QETAERVGLAALIIQDFKGLLLSDYKFSWDRVFQSRGDTGVFLQYTHARLHSLEETFGCGYLNDFNTACL    421 - 490
QEPQSVSILQHLLRFDEVLYKSSQDFQPRHIVSYLLTLSHLAAVAHKTLQIKDSPPEVAGARLHLFKAVR    491 - 560
SVLANGMKLLGITPVCRM                                                        561 - 578
//

Text Mined References (21)

PMID Year Title
26741492 2016 A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
26083569 2015 Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25809939 2015 A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings.
24047924 2013 Subdural effusions and lack of early pontocerebellar hypoplasia in siblings with RARS2 mutations.
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
22681889 2012 The mRNA-bound proteome and its global occupancy profile on protein-coding transcripts.
22569581 2013 Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.
22086604 2012 Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2.
21269460 2011 Initial characterization of the human central proteome.
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