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Aliases for PTRH2 Gene

Aliases for PTRH2 Gene

  • Peptidyl-TRNA Hydrolase 2 2 3 5
  • Cilia And Flagella Associated Protein 37 2 3
  • Bcl-2 Inhibitor Of Transcription 1 3 4
  • EC 3.1.1.29 4 58
  • PTH 2 3 4
  • PTH2 3 4
  • BIT1 3 4
  • Peptidyl-TRNA Hydrolase 2, Mitochondrial 3
  • 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 Infantile-Onset Multisystem Neurologic, Endocrine, And Pancreatic Disease and Microcephaly. Among its related pathways are Apoptosis Modulation and Signaling and Deubiquitination. GO annotations related to this gene include aminoacyl-tRNA hydrolase activity.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for PTRH2 Gene

Genomics for PTRH2 Gene

Regulatory Elements for PTRH2 Gene

Enhancers for PTRH2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17H059824 2.7 VISTA FANTOM5 Ensembl ENCODE dbSUPER 12 -135.3 -135260 36.2 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 ZC3H11A NFYC TUBD1 PPM1D RPS6KB1 HEATR6 NDUFB8P2 SMG8 LOC101927755 DHX40 APPBP2 VMP1
GH17H059667 1.2 Ensembl ENCODE dbSUPER 11.7 +38.4 38380 3.6 NFRKB JUN OVOL3 FEZF1 GATAD2B PAX8 ZNF843 GATA3 JUND PRDM6 PTRH2 VMP1 TUBD1 RPS6KB1 HEATR6 PRR11 GC17M059649 ENSG00000273702
GH17H059521 1.2 Ensembl ENCODE 9.9 +186.0 185971 1.2 FOXA2 ARID4B SIN3A ZNF2 YY1 ELK1 ZNF143 MXD4 REST PPARG ENSG00000224738 DHX40 RPS6KB1 YPEL2 PTRH2 VMP1 LINC01476 LOC105371845
GH17H059746 1 ENCODE dbSUPER 11.3 -39.4 -39409 0.2 CTCF NFXL1 RAD21 GATA3 SMC3 ZNF143 MAFK MIXL1 SMARCA5 ZNF654 MIR21 RNU6-450P TUBD1 RPS6KB1 VMP1 PTRH2 GC17M059723 ENSG00000267637
GH17H059775 0.8 dbSUPER 10.8 -68.8 -68803 2.6 PKNOX1 NFXL1 ZNF121 ZNF207 FOS SMARCA5 ZNF592 ZNF217 SP1 MTA1 RPS6KB1 TUBD1 LOC101927755 APPBP2 NDUFB8P2 MIR21 PPM1D RNU6-450P ENSG00000224738 PTRH2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PTRH2 on UCSC Golden Path with GeneCards custom track

Promoters for PTRH2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000096402 26 2801 HDGF FOXA2 PKNOX1 MLX ARID4B SIN3A FEZF1 DMAP1 ZBTB7B YY1

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)

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 isoforms=76, isoforms=81, isoforms=95, isoforms=106, Lys115, Lys171, and isoforms=177
  • 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:

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 CatalyticActivity:
N-substituted aminoacyl-tRNA + H(2)O = N-substituted amino acid + tRNA.
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.

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

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 5
extracellular 2
peroxisome 1
endoplasmic reticulum 1

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 IMP 22952044
GO:0005829 cytosol IMP 15006356
GO:0016020 membrane IDA 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
1 BioSystems 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 IMP 15006356
GO:2000811 negative regulation of anoikis 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

Unigene Clusters for PTRH2 Gene

Peptidyl-tRNA hydrolase 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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, PaxDb, 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
Organs:
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

Primer Products

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 34
  • 100 (n)
dog
(Canis familiaris)
Mammalia PTRH2 33 34
  • 91.06 (n)
cow
(Bos Taurus)
Mammalia PTRH2 33 34
  • 86.96 (n)
mouse
(Mus musculus)
Mammalia Ptrh2 33 16 34
  • 83.99 (n)
rat
(Rattus norvegicus)
Mammalia Ptrh2 33
  • 83.24 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PTRH2 34
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PTRH2 34
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves PTRH2 33 34
  • 67.45 (n)
lizard
(Anolis carolinensis)
Reptilia PTRH2 34
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ptrh2 33
  • 68.62 (n)
zebrafish
(Danio rerio)
Actinopterygii ptrh2 33 34
  • 64.53 (n)
wufj09f02 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13784 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003883 33
  • 55.96 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG1307 33 34
  • 50 (n)
worm
(Caenorhabditis elegans)
Secernentea C24G6.8 34
  • 20 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PTH2 34
  • 37 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G03010 33
  • 54.07 (n)
rice
(Oryza sativa)
Liliopsida Os04g0652900 33
  • 54.39 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU01501 33
  • 52.74 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2277 33
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)

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 Sequence Context AA Info Type
rs730882234 Pathogenic, Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset (IMNEPD) [MIM:616263] 59,697,725(-) TGCCC(A/C)GTGCT reference, missense
rs786201017 Pathogenic 59,697,709(-) TGCTG(-/CT)GTTTC reference, frameshift-variant
rs1000402798 -- 59,705,096(+) TTCTA(G/T)TTGAT intron-variant
rs1000421433 -- 59,698,814(+) GAATA(G/T)CTCCT intron-variant
rs1000626254 -- 59,699,080(+) CCAAG(A/T)TTTGA intron-variant, utr-variant-5-prime

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

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

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)

Relevant External Links for PTRH2 Gene

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

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

Disorders for PTRH2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for PTRH2 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
infantile-onset multisystem neurologic, endocrine, and pancreatic disease
  • infantile multisystem neurologic-endocrine-pancreatic disease
microcephaly
  • microcephalus
intellectual disability
- 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.

Relevant External Links for PTRH2

Genetic Association Database (GAD)
PTRH2
Human Genome Epidemiology (HuGE) Navigator
PTRH2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PTRH2
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 22 60
  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 60
  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 60
  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 60
  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 60

Products for PTRH2 Gene

Sources for PTRH2 Gene

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