Ensembl ID ENSG00000141378 Gene ID 51651 Accession 24265
Gene Symbol PTRH2 Alias PTH;BIT1;PTH2;PTH2;CFAP37;IMNEPD;CGI-147 Full Name peptidyl-tRNA hydrolase 2
Position 17 : 59697308 - 59707626 Length 10319 bases Strand Minus strand
Status Confidence Main interacting RNAstRNARBP type Canonical_RBPs
Summary The protein encoded by this gene is a mitochondrial protein with two putative domains, an N-terminal mitochondrial localization sequence, and a UPF0099 domain. In vitro assays suggest that this protein possesses peptidyl-tRNA hydrolase activity, to release the peptidyl moiety from tRNA, thereby preventing the accumulation of dissociated peptidyl-tRNA that could reduce the efficiency of translation. This protein also plays a role regulating cell survival and death. It promotes survival as part of an integrin-signaling pathway for cells attached to the extracellular matrix (ECM), but also promotes apoptosis in cells that have lost their attachment to the ECM, a process called anoikos. After loss of cell attachment to the ECM, this protein is phosphorylated, is released from the mitochondria into the cytosol, and promotes caspase-independent apoptosis through interactions with transcriptional regulators. This gene has been implicated in the development and progression of tumors, and mutations in this gene have been associated with an infantile multisystem neurologic, endocrine, and pancreatic disease (INMEPD) characterized by intellectual disability, postnatal microcephaly, progressive cerebellar atrophy, hearing impairment, polyneuropathy, failure to thrive, and organ fibrosis with exocrine pancreas insufficiency (PMID: 25574476). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]

ENSG00000141378 Expression In 33 Tumors

Ensembl ID Gene symbol Log2 Foldchange Pvaue Cancer
ENSG00000141378 PTRH2 0.70 6.10e-33 KIRC
ENSG00000141378 PTRH2 1.03 3.58e-33 BRCA
ENSG00000141378 PTRH2 0.92 1.69e-26 COAD
ENSG00000141378 PTRH2 0.87 1.54e-25 LUSC
ENSG00000141378 PTRH2 0.69 2.79e-18 PRAD
ENSG00000141378 PTRH2 0.99 8.58e-17 KIRP
ENSG00000141378 PTRH2 0.75 4.95e-15 UCEC
ENSG00000141378 PTRH2 0.98 1.44e-36 LUAD
Ensembl ID Gene symbol Cancer types Pubmed ID
ENSG00000141378 PTRH2 tumor 11375132
ENSG00000141378 PTRH2 tumours 17353917
ENSG00000141378 PTRH2 tumor 23637631
ENSG00000141378 PTRH2 tumor 28419846
ENSG00000141378 PTRH2 tumor 29069783
ENSG00000141378 PTRH2 small cell lung cancer 9467947
Ensembl ID Gene symbol Disease/phenotype Mutation type Mutated / Total samples Literature
Ensembl ID Gene symbol Cancer P-value Which worse show
ENSG00000141378 PTRH2 MESO 0.011 high
ENSG00000141378 PTRH2 SARC 0.019 high
ENSG00000141378 PTRH2 STAD 0.0092 low
ENSG00000141378 PTRH2 UCEC 0.007 low
ENSG00000141378 PTRH2 ACC 0.018 high
ENSG00000141378 PTRH2 LGG 0.026 low
ENSG00000141378 PTRH2 LUSC 0.013 low
ENSG00000141378 PTRH2 HNSC 0.04 high
ENSG00000141378 PTRH2 KICH 0.00024 high
ENSG00000141378 PTRH2 LUAD 0.031 high
ENSG00000141378 PTRH2 THYM 0.042 low
ENSG00000141378 PTRH2 COAD 0.038 high
ENSG00000141378 PTRH2 OV 0.0065 low
ENSG00000141378 PTRH2 BLCA 0.022 high
ENSG00000141378 PTRH2 GBM 0.0031 high
ENSG00000141378 PTRH2 SKCM 0.0035 low
ENSG00000141378 PTRH2 CESC 0.04 high
Ensembl ID Gene symbol Cancer CNV type -log10(q-value) G-score average amplitude frequency
ENSG00000141378 PTRH2 LGG Amp 1.826458 0.060525 0.553682 0.072125
ENSG00000141378 PTRH2 KIRP Amp 0.627742 0.050882 0.711537 0.690972
ENSG00000141378 PTRH2 COAD Amp 0.909240 0.071750 0.522433 0.221729
ENSG00000141378 PTRH2 UCS Amp 0.606426 0.477471 0.732717 0.517857
ENSG00000141378 PTRH2 PAAD Del 7.057907 0.140038 0.380909 0.255435
ENSG00000141378 PTRH2 SKCM Amp 4.102378 0.220187 0.544747 0.326975
ENSG00000141378 PTRH2 LIHC Amp 5.294025 0.212141 0.673095 0.345946
ENSG00000141378 PTRH2 BLCA Amp 2.794059 0.233532 0.519788 0.448529
ENSG00000141378 PTRH2 BRCA Amp 76.368655 0.696896 1.006897 0.382407
ENSG00000141378 PTRH2 UVM Amp 0.721460 0.165534 0.811066 0.162500