Property Summary

NCBI Gene PubMed Count 10
PubMed Score 32.20
PubTator Score 4.95

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (2)

Disease Target Count P-value
ovarian cancer 8492 9.33222636270972E-11
atypical teratoid / rhabdoid tumor 4369 5.90618184520106E-6
medulloblastoma, large-cell 6234 3.42277927445274E-5
pilocytic astrocytoma 3086 5.74795037276211E-5
glioblastoma 5572 6.7431900280814E-5
medulloblastoma 1524 1.16891416096753E-4
osteosarcoma 7933 1.96519816431335E-4
adult high grade glioma 2148 2.30519227423505E-4
primitive neuroectodermal tumor 3031 5.65693273649589E-4
astrocytic glioma 2241 0.0127568340431722
Disease Target Count Z-score Confidence
Leigh disease 81 3.775 1.9

Expression

  Differential Expression (10)

Disease log2 FC p
astrocytic glioma -1.200 0.013
osteosarcoma -1.241 0.000
glioblastoma -1.700 0.000
medulloblastoma -1.600 0.000
atypical teratoid / rhabdoid tumor -1.500 0.000
medulloblastoma, large-cell -1.700 0.000
primitive neuroectodermal tumor -1.200 0.001
adult high grade glioma -1.500 0.000
pilocytic astrocytoma -1.200 0.000
ovarian cancer 1.300 0.000

Synonym

Accession O75879 Q4W5M8 Q53GP4 Q9P0S6 Q9Y2B8 Glu-AdT subunit B
Symbols PET112
HSPC199
PET112L

Gene

PANTHER Protein Class (1)

  Ortholog (14)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG
Dog OMA EggNOG
Horse OMA EggNOG
Pig OMA EggNOG
Opossum OMA EggNOG
Chicken OMA EggNOG
Anole lizard OMA EggNOG
Xenopus OMA EggNOG
C. elegans EggNOG Inparanoid
Fruitfly OMA EggNOG Inparanoid
S.cerevisiae OMA EggNOG Inparanoid

Gene RIF (2)

PMID Text
20877624 Observational study of gene-disease association. (HuGE Navigator)
19805282 Studies showed in vitro Gln-tRNA(Gln) formation catalyzed by the recombinant mtGluRS and hGatCAB.

AA Sequence

MAAPMLRWGCRGRRWAFARVDGGSCHRRGAPTGSTSNQIRGESSVAQQPLHTAQKTRKGEHKWAAVVGLE      1 - 70
IHAQISSNSKLFSGSQVRFSAPPNSLVSFFDASLPGTLPVLNRRCVEAAVMTGLALNCHINKKSLFDRKH     71 - 140
YFYADLPAGYQITQQRLPIAVNGSLIYGVCAGKKQSQVIPKTVRIKQIQLEQDSGKSLHDNLRSQTLIDL    141 - 210
NRAGVGLLEVVLEPDMSCGEEAATAVRELQLILQALGTSQANMAEGQLRVDANISVHHPGEPLGVRTEVK    211 - 280
NLNSIRFLAKAIDYEIQRQINELENGGEILNETRSFHHKLGCTMSMRDKEGKQDYRFMPEPNLPPLVLYD    281 - 350
ATSLPAGADPQQVINIDQIRETLPELPSVTREKLVQQYGMLLEHSFTLLNEVGLLEFFQNVIKETRAEPK    351 - 420
KVTSWVLNTFLGYLKQQNLAVSESPVTPSALAELLDLLDSRTISSSAAKQVFEELWKREGKTPGQIVSEK    421 - 490
QLELMQDQGALEQLCHSVMEAHPQVVMDVKNRNPRAINKLIGLVRKATQSRADPVMIKEILEKKLSL       491 - 557
//

Text Mined References (14)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
19805282 2009 Biogenesis of glutaminyl-mt tRNAGln in human mitochondria.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17903297 2007 Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12665801 2003 Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.
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