Property Summary

NCBI Gene PubMed Count 54
Grant Count 24
R01 Count 9
Funding $2,517,539.77
PubMed Score 57.68
PubTator Score 64.23

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
astrocytoma 1.100 0.007
ovarian cancer 1.300 0.000

Gene RIF (52)

PMID Text
23849775 ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy.
21857155 ELAC2 and PTCD1 affect the 3' end processing of tRNAs.
21593607 results indicate that ELAC2 functions as a tRNase Z in human mitochondria and suggest that mt-tRNase Z preferentially cleaves molecules already processed by the proteinaceous mtRNase P
21559454 analysis of dual nuclear/mitochondrial targeting of the ELAC2 gene product by alternative translation initiation
20877624 Observational study of gene-disease association. (HuGE Navigator)
20565774 Observational study of genotype prevalence. (HuGE Navigator)
20231859 ELAC2 polymorphisms are associated with prostate cancer.
20231859 Meta-analysis of gene-disease association. (HuGE Navigator)
20119870 Data describe polymorphisms in the HPC/ELAC-2 and alpha 1-antitrypsin genes that correlate with human diseases in an Indian population.
20119870 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
More...

AA Sequence

MWALCSLLRSAAGRTMSQGRTISQAPARRERPRKDPLRHLRTREKRGPSGCSGGPNTVYLQVVAAGSRDS      1 - 70
GAALYVFSEFNRYLFNCGEGVQRLMQEHKLKVARLDNIFLTRMHWSNVGGLSGMILTLKETGLPKCVLSG     71 - 140
PPQLEKYLEAIKIFSGPLKGIELAVRPHSAPEYEDETMTVYQIPIHSEQRRGKHQPWQSPERPLSRLSPE    141 - 210
RSSDSESNENEPHLPHGVSQRRGVRDSSLVVAFICKLHLKRGNFLVLKAKEMGLPVGTAAIAPIIAAVKD    211 - 280
GKSITHEGREILAEELCTPPDPGAAFVVVECPDESFIQPICENATFQRYQGKADAPVALVVHMAPASVLV    281 - 350
DSRYQQWMERFGPDTQHLVLNENCASVHNLRSHKIQTQLNLIHPDIFPLLTSFRCKKEGPTLSVPMVQGE    351 - 420
CLLKYQLRPRREWQRDAIITCNPEEFIVEALQLPNFQQSVQEYRRSAQDGPAPAEKRSQYPEIIFLGTGS    421 - 490
AIPMKIRNVSATLVNISPDTSLLLDCGEGTFGQLCRHYGDQVDRVLGTLAAVFVSHLHADHHTGLPSILL    491 - 560
QRERALASLGKPLHPLLVVAPNQLKAWLQQYHNQCQEVLHHISMIPAKCLQEGAEISSPAVERLISSLLR    561 - 630
TCDLEEFQTCLVRHCKHAFGCALVHTSGWKVVYSGDTMPCEALVRMGKDATLLIHEATLEDGLEEEAVEK    631 - 700
THSTTSQAISVGMRMNAEFIMLNHFSQRYAKVPLFSPNFSEKVGVAFDHMKVCFGDFPTMPKLIPPLKAL    701 - 770
FAGDIEEMEERREKRELRQVRAALLSRELAGGLEDGEPQQKRAHTEEPQAKKVRAQ                  771 - 826
//

Text Mined References (61)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23849775 2013 ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22681889 2012 The mRNA-bound proteome and its global occupancy profile on protein-coding transcripts.
22658674 2012 Insights into RNA biology from an atlas of mammalian mRNA-binding proteins.
21857155 2011 RNA processing in human mitochondria.
21593607 Involvement of human ELAC2 gene product in 3' end processing of mitochondrial tRNAs.
21559454 2011 Localization of human RNase Z isoforms: dual nuclear/mitochondrial targeting of the ELAC2 gene product by alternative translation initiation.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
More...