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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]
PTRH2 (Peptidyl-TRNA Hydrolase 2) is a Protein Coding gene. Diseases associated with PTRH2 include Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset and Aceruloplasminemia. Among its related pathways are Metabolism of proteins and Deubiquitination. Gene Ontology (GO) annotations related to this gene include aminoacyl-tRNA hydrolase activity.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004045 | aminoacyl-tRNA hydrolase activity | IMP | 14660562 |
GO:0005515 | protein binding | IPI | 15006356 |
GO:0016787 | hydrolase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | IBA,IMP | 22952044 |
GO:0005829 | cytosol | IBA,IMP | 15006356 |
GO:0016020 | membrane | HDA | 19946888 |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Deubiquitination |
.74
|
|
2 | Metabolism of proteins | ||
3 | Apoptosis and Autophagy | ||
4 | Apoptosis Modulation and Signaling |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006915 | apoptotic process | IEA | -- |
GO:0010629 | negative regulation of gene expression | IMP | 15006356 |
GO:2000210 | positive regulation of anoikis | IBA,IMP | 15006356 |
GO:2000811 | negative regulation of anoikis | IBA,IMP | 21383007 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Water | Approved | Pharma | 0 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | · | 2c | · | 2d | · | 2e | ^ | 3a | · | 3b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||
SP2: | - | - | - | - | - | ||||||||||||||||
SP3: | - | - | |||||||||||||||||||
SP4: | - |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PTRH2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PTRH2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PTRH2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ptrh2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ptrh2 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | PTRH2 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | PTRH2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PTRH2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PTRH2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ptrh2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ptrh2 30 31 |
|
OneToOne | |
wufj09f02 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.13784 30 |
|
||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003883 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG1307 30 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | C24G6.8 31 |
|
OneToOne | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PTH2 31 |
|
OneToOne | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT3G03010 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os04g0652900 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU01501 30 |
|
||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.2277 30 |
|
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
684534 | Not Provided: not provided | 59,697,878(-) | C/T | MISSENSE_VARIANT | |
695110 | Pathogenic: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset | 59,697,655(-) | C/T | NONSENSE | |
rs117588133 | Likely Benign: not specified | 59,707,386(-) | T/C | FIVE_PRIME_UTR_VARIANT | |
rs1236935307 | Likely Benign: not specified | 59,707,395(-) | G/A | FIVE_PRIME_UTR_VARIANT | |
rs142925288 | Benign/Likely Benign: not specified; not provided | 59,697,811(-) | T/C | SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset |
|
|
aceruloplasminemia |
|
|
mitochondrial complex iii deficiency, nuclear type 2 |
|
|
microcephaly |
|
|
polyneuropathy |
|
|