PTRH2 gene

peptidyl-tRNA hydrolase 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Promotes caspase-independent apoptosis by regulating the function of two transcriptional regulators, AES and TLE1.

The natural substrate for this enzyme may be peptidyl-tRNAs which drop off the ribosome during protein synthesis.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset

From UniProt:

Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset (IMNEPD): A progressive multisystem disease characterized by a variety of neurologic, endocrine, and, in some patients, pancreatic features. Variable clinical symptoms include global developmental delay, hypotonia, hearing loss, ataxia, hyporeflexia, facial dysmorphism, hypothyroidism, and pancreatic insufficiency. [MIM:616263]

Cytogenetic Location: 17q23.1, which is the long (q) arm of chromosome 17 at position 23.1

Molecular Location: base pairs 59,697,306 to 59,707,626 on chromosome 17 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 17q23.1, which is the long (q) arm of chromosome 17 at position 23.1
  • BIT1
  • CFAP37
  • CGI-147
  • PTH
  • PTH 2
  • PTH2