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 effic... See more...

Aliases for PTRH2 Gene

Aliases for PTRH2 Gene

  • Peptidyl-TRNA Hydrolase 2 2 3 5
  • Peptidyl-TRNA Hydrolase 2, Mitochondrial 3 4
  • Cilia And Flagella Associated Protein 37 2 3
  • Bcl-2 Inhibitor Of Transcription 1 3 4
  • EC 3.1.1.29 4 54
  • PTH 2 3 4
  • BIT1 3 4
  • PTH2 3 4
  • Bcl-2 Inhibitor Of Transcription 2
  • CGI-147 3
  • CFAP37 3
  • IMNEPD 3
  • PTH 3

External Ids for PTRH2 Gene

Previous GeneCards Identifiers for PTRH2 Gene

  • GC17M055131
  • GC17M057774
  • GC17M053147

Summaries for PTRH2 Gene

Entrez Gene Summary for PTRH2 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]

GeneCards Summary for PTRH2 Gene

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 Apoptosis and Autophagy and Deubiquitination. Gene Ontology (GO) annotations related to this gene include aminoacyl-tRNA hydrolase activity.

UniProtKB/Swiss-Prot Summary for PTRH2 Gene

  • The natural substrate for this enzyme may be peptidyl-tRNAs which drop off the ribosome during protein synthesis.
  • Promotes caspase-independent apoptosis by regulating the function of two transcriptional regulators, AES and TLE1.

Additional gene information for PTRH2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PTRH2 Gene

Genomics for PTRH2 Gene

GeneHancer (GH) Regulatory Elements for PTRH2 Gene

Promoters and enhancers for PTRH2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PTRH2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PTRH2 gene promoter:
  • aMEF-2
  • AML1a
  • FOXO1
  • FOXO1a
  • GR-beta
  • HNF-1
  • HNF-1A
  • MEF-2A
  • POU2F1
  • POU2F1a

Genomic Locations for PTRH2 Gene

Genomic Locations for PTRH2 Gene
chr17:59,674,636-59,707,626
(GRCh38/hg38)
Size:
32,991 bases
Orientation:
Minus strand
chr17:57,751,997-57,784,987
(GRCh37/hg19)
Size:
32,991 bases
Orientation:
Minus strand

Genomic View for PTRH2 Gene

Genes around PTRH2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PTRH2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PTRH2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PTRH2 Gene

Proteins for PTRH2 Gene

  • Protein details for PTRH2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y3E5-PTH2_HUMAN
    Recommended name:
    Peptidyl-tRNA hydrolase 2, mitochondrial
    Protein Accession:
    Q9Y3E5
    Secondary Accessions:
    • B3KUY4
    • Q9NTE5

    Protein attributes for PTRH2 Gene

    Size:
    179 amino acids
    Molecular mass:
    19194 Da
    Quaternary structure:
    • Monomer.

    Three dimensional structures from OCA and Proteopedia for PTRH2 Gene

neXtProt entry for PTRH2 Gene

Selected DME Specific Peptides for PTRH2 Gene

Q9Y3E5:
  • DLKMGKGK
  • GQPKVVVK

Post-translational modifications for PTRH2 Gene

  • Ubiquitinated by PRKN during mitophagy, leading to its degradation and enhancement of mitophagy. Deubiquitinated by USP30.
  • Ubiquitination at Lys76, Lys81, Lys95, Lys106, Lys115, Lys171, and Lys177
  • Modification sites at PhosphoSitePlus

Other Protein References for PTRH2 Gene

Domains & Families for PTRH2 Gene

Gene Families for PTRH2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted membrane proteins

Protein Domains for PTRH2 Gene

Suggested Antigen Peptide Sequences for PTRH2 Gene

GenScript: Design optimal peptide antigens:
  • Bcl-2 inhibitor of transcription 1 (PTH2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y3E5

UniProtKB/Swiss-Prot:

PTH2_HUMAN :
  • Belongs to the PTH2 family.
Family:
  • Belongs to the PTH2 family.
genes like me logo Genes that share domains with PTRH2: view

Function for PTRH2 Gene

Molecular function for PTRH2 Gene

UniProtKB/Swiss-Prot Function:
The natural substrate for this enzyme may be peptidyl-tRNAs which drop off the ribosome during protein synthesis.
UniProtKB/Swiss-Prot Function:
Promotes caspase-independent apoptosis by regulating the function of two transcriptional regulators, AES and TLE1.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + N-acyl-L-alpha-aminoacyl-tRNA = an N-acyl-L-amino acid + H(+) + tRNA; Xref=Rhea:RHEA:54448, Rhea:RHEA-COMP:10123, Rhea:RHEA-COMP:13883, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:59874, ChEBI:CHEBI:78442, ChEBI:CHEBI:138191; EC=3.1.1.29;.

Enzyme Numbers (IUBMB) for PTRH2 Gene

Phenotypes From GWAS Catalog for PTRH2 Gene

Gene Ontology (GO) - Molecular Function for PTRH2 Gene

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 --
genes like me logo Genes that share ontologies with PTRH2: view
genes like me logo Genes that share phenotypes with PTRH2: view

Human Phenotype Ontology for PTRH2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PTRH2 Gene

MGI Knock Outs for PTRH2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PTRH2

Clone Products

  • Addgene plasmids for PTRH2

No data available for Transcription Factor Targets and HOMER Transcription for PTRH2 Gene

Localization for PTRH2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PTRH2 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PTRH2 gene
Compartment Confidence
mitochondrion 5
cytosol 4
extracellular 2
endoplasmic reticulum 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PTRH2 Gene

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 --
genes like me logo Genes that share ontologies with PTRH2: view

Pathways & Interactions for PTRH2 Gene

genes like me logo Genes that share pathways with PTRH2: view

Pathways by source for PTRH2 Gene

1 Cell Signaling Technology pathway for PTRH2 Gene

SIGNOR curated interactions for PTRH2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for PTRH2 Gene

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
genes like me logo Genes that share ontologies with PTRH2: view

Drugs & Compounds for PTRH2 Gene

(1) Drugs for PTRH2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
genes like me logo Genes that share compounds with PTRH2: view

Transcripts for PTRH2 Gene

mRNA/cDNA for PTRH2 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PTRH2

Clone Products

  • Addgene plasmids for PTRH2

Alternative Splicing Database (ASD) splice patterns (SP) for PTRH2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c · 2d · 2e ^ 3a · 3b
SP1:
SP2: - - - - -
SP3: - -
SP4: -

Relevant External Links for PTRH2 Gene

GeneLoc Exon Structure for
PTRH2
ECgene alternative splicing isoforms for
PTRH2

Expression for PTRH2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PTRH2 Gene

Protein differential expression in normal tissues from HIPED for PTRH2 Gene

This gene is overexpressed in Nasal epithelium (32.9) and Bone (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PTRH2 Gene



Protein tissue co-expression partners for PTRH2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PTRH2 Gene:

PTRH2

SOURCE GeneReport for Unigene cluster for PTRH2 Gene:

Hs.12677

Phenotype-based relationships between genes and organs from Gene ORGANizer for PTRH2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • cranial nerve
  • ear
  • eye
  • face
  • head
  • hypothalamus
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • pituitary gland
  • skull
  • thyroid
Thorax:
  • heart
  • lung
Abdomen:
  • intestine
  • large intestine
  • liver
  • pancreas
  • small intestine
Pelvis:
  • pelvis
  • penis
  • testicle
  • uterus
Limb:
  • arm
  • digit
  • femur
  • finger
  • foot
  • forearm
  • hand
  • hip
  • lower limb
  • shin
  • thigh
  • upper limb
General:
  • blood
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with PTRH2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES for PTRH2 Gene

Orthologs for PTRH2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PTRH2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PTRH2 33 32
  • 100 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PTRH2 33 32
  • 91.06 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PTRH2 33 32
  • 86.96 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ptrh2 17 33 32
  • 83.99 (n)
rat
(Rattus norvegicus)
Mammalia Ptrh2 32
  • 83.24 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PTRH2 33
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PTRH2 33
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves PTRH2 33 32
  • 67.45 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PTRH2 33
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ptrh2 32
  • 68.62 (n)
zebrafish
(Danio rerio)
Actinopterygii ptrh2 33 32
  • 64.53 (n)
OneToOne
wufj09f02 32
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13784 32
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003883 32
  • 55.96 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG1307 33 32
  • 50 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C24G6.8 33
  • 20 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PTH2 33
  • 37 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G03010 32
  • 54.07 (n)
rice
(Oryza sativa)
Liliopsida Os04g0652900 32
  • 54.39 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU01501 32
  • 52.74 (n)
sea squirt
(Ciona savignyi)
Ascidiacea Cin.2277 32
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2277 32
Species where no ortholog for PTRH2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PTRH2 Gene

ENSEMBL:
Gene Tree for PTRH2 (if available)
TreeFam:
Gene Tree for PTRH2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PTRH2: view image

Paralogs for PTRH2 Gene

No data available for Paralogs for PTRH2 Gene

Variants for PTRH2 Gene

Sequence variations from dbSNP and Humsavar for PTRH2 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs730882234 likely-pathogenic, pathogenic, Cerebellar ataxia, Global developmental delay, Hearing impairment, Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset, Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset (IMNEPD) [MIM:616263] 59,697,725(-) T/G coding_sequence_variant, missense_variant
rs786201017 pathogenic, Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 59,697,709(-) AG/ coding_sequence_variant, frameshift
rs1555609200 likely-pathogenic, not provided 59,697,868(-) AAA/AAAA coding_sequence_variant, frameshift
rs762093483 likely-pathogenic, not provided 59,697,726(-) G/A coding_sequence_variant, stop_gained
rs117588133 likely-benign, not specified 59,707,386(-) T/C 5_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for PTRH2 Gene

Variant ID Type Subtype PubMed ID
esv32651 CNV loss 17666407
nsv833501 CNV loss 17160897

Variation tolerance for PTRH2 Gene

Residual Variation Intolerance Score: 36.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.72; 15.21% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PTRH2 Gene

Human Gene Mutation Database (HGMD)
PTRH2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PTRH2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PTRH2 Gene

Disorders for PTRH2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for PTRH2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset
  • imnepd
aceruloplasminemia
  • hemosiderosis, systemic, due to aceruloplasminemia
autosomal dominant non-syndromic intellectual disability 1
  • mrd1
microcephaly
  • microcephaly syndrome
- elite association - COSMIC cancer census association via MalaCards
Search PTRH2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PTH2_HUMAN
  • Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset (IMNEPD) [MIM:616263]: 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. {ECO:0000269 PubMed:25558065, ECO:0000269 PubMed:25574476}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PTRH2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PTRH2: view

No data available for Genatlas for PTRH2 Gene

Publications for PTRH2 Gene

  1. A mitochondrial protein, Bit1, mediates apoptosis regulated by integrins and Groucho/TLE corepressors. (PMID: 15006356) Jan Y … Ruoslahti E (Cell 2004) 2 3 4 23 56
  2. Crystal structure of a human peptidyl-tRNA hydrolase reveals a new fold and suggests basis for a bifunctional activity. (PMID: 14660562) De Pereda JM … Pascual J (The Journal of biological chemistry 2004) 2 3 4 56
  3. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PMID: 10810093) Lai CH … Lin W (Genome research 2000) 2 3 4 56
  4. Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. (PMID: 25558065) Alazami AM … Alkuraya FS (Cell reports 2015) 3 4 56
  5. Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness. (PMID: 25574476) Hu H … Kaindl AM (Annals of clinical and translational neurology 2014) 3 4 56

Products for PTRH2 Gene

Sources for PTRH2 Gene