PTRH2
peptidyl-tRNA hydrolase 2 | BIT1, CFAP37, CGI-147, PTH2

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]

Developmental clusters: GC4
Biological processes 17 terms
Expression (TPM)
PTRH2 — as a Regulated Gene

TFs regulating PTRH2 0 TFs

Transcription factors with Perturb-seq knockdown data for PTRH2. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = PTRH2 upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.

Data: Effect:
TF Mean coef Binding Outlier TF→Gene link

Elements linked to PTRH2

Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of PTRH2, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.

Accessibility Element Dist. to TSS Link type TFs
chr17:59,418,775–59,419,543 288.3 kb Distal (>10kb) Multiome 216
chr17:59,423,282–59,424,320 283.5 kb Distal (>10kb) Multiome 316
chr17:59,565,384–59,566,262 141.8 kb Distal (>10kb) Multiome 1120
chr17:59,619,053–59,620,313 87.8 kb Distal (>10kb) Multiome 1183
chr17:59,707,078–59,708,143 134 bp At TSS Multiome 963
chr17:59,837,406–59,838,036 130.3 kb Distal (>10kb) Multiome 865
chr17:59,892,295–59,893,854 185.6 kb Distal (>10kb) Multiome 992
chr17:59,964,460–59,965,228 257.4 kb Distal (>10kb) Multiome 834
chr17:60,037,145–60,037,598 329.9 kb Distal (>10kb) Multiome HiCAR 592

Genome Browser

Genomic view of the PTRH2 locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.

chr17:59,408,775 – 60,047,598
Proximal 1 kb Distal 10 kb Multiome HiCAR ATAC-seq RNA-seq