Peptidyl-Trna Hydrolase 2

Alternative Names

  • PTRH2
  • BCL2 Inhibitor of Transcription 1
  • BIT1
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OMIM Number

608625

NCBI Gene ID

51651

Uniprot ID

Q9Y3E5

Length

10,123 bases

No. of Exons

3

No. of isoforms

1

Protein Name

Peptidyl-tRNA hydrolase 2, mitochondrial

Molecular Mass

19194 Da

Amino Acid Count

179

Genomic Location

chr17:59,697,308-59,707,430

Gene Map Locus
17q23.1

Description

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. Alternative splicing results in multiple transcript variants encoding different isoforms. [From RefSeq]

Molecular Genetics

The PTRH2 gene is located on the long arm of chromosome 17.  It consists of only one coding exon, spanning about 33 kb within the genomic DNA.  The encoded protein comprises 179 amino acids with a molecular mass of 19 kDa.  The protein consists of two putative domains, an N-terminal mitochondrial localization sequence, and a UPF0099 domain.  Alternatively spliced transcript variants encoding different isoforms have been found for this gene.  

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_016077.5:c.254A>CSaudi Arabia; TunisiaNC_000017.11:g.59697725T>GPathogenicPathogenicNeurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset 1NG_042064.1:g.14874A>C; NM_016077.5:c.254A>C; NP_057161.1:p.Gln85Pro730882234183332
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