Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51651
Gene name Gene Name - the full gene name approved by the HGNC.
Peptidyl-tRNA hydrolase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PTRH2
Synonyms (NCBI Gene) Gene synonyms aliases
BIT1, CFAP37, CGI-147, IMNEPD, PTH, PTH 2, PTH2
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q23.1
Summary Summary of gene provided in NCBI Entrez 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 releas
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs730882234 T>G Pathogenic, likely-pathogenic Coding sequence variant, missense variant
rs762093483 G>A Likely-pathogenic Coding sequence variant, stop gained
rs786201017 AG>- Pathogenic Coding sequence variant, frameshift variant
rs1268684924 C>T Pathogenic Coding sequence variant, stop gained
rs1555609200 ->A Likely-pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT028870 hsa-miR-26b-5p Microarray 19088304
MIRT041641 hsa-miR-484 CLASH 23622248
MIRT041234 hsa-miR-193b-3p CLASH 23622248
MIRT678297 hsa-miR-6808-5p HITS-CLIP 23824327
MIRT678296 hsa-miR-6893-5p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004045 Function Aminoacyl-tRNA hydrolase activity IBA 21873635
GO:0004045 Function Aminoacyl-tRNA hydrolase activity IMP 14660562
GO:0005515 Function Protein binding IPI 15006356, 21383007, 22952044
GO:0005739 Component Mitochondrion IBA 21873635
GO:0005739 Component Mitochondrion IDA 15006356
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608625 24265 ENSG00000141378
Protein
UniProt ID Q9Y3E5
Protein name Peptidyl-tRNA hydrolase 2, mitochondrial (PTH 2) (EC 3.1.1.29) (Bcl-2 inhibitor of transcription 1)
Protein function Peptidyl-tRNA hydrolase which releases tRNAs from the ribosome during protein synthesis (PubMed:14660562). Promotes caspase-independent apoptosis by regulating the function of two transcriptional regulators, AES and TLE1. {ECO:0000269|PubMed:146
PDB 1Q7S
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01981 PTH2 65 179 Peptidyl-tRNA hydrolase PTH2 Family
Sequence
Sequence length 179
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Ub-specific processing proteases
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Hearing loss Sensorineural Hearing Loss (disorder) rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359
View all (184 more)
Hypothyroidism Hypothyroidism rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912
View all (22 more)
Mental retardation Intellectual Disability, MENTAL RETARDATION, AUTOSOMAL DOMINANT 56 rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Unknown
Disease term Disease name Evidence References Source
Multisystem Neurologic, Endocrine And Pancreatic Disease neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1, infantile multisystem neurologic-endocrine-pancreatic disease GenCC
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Associate 28488526
Adenocarcinoma Of Esophagus Associate 28488526
Ataxia Associate 37239392, 39766776
Breast Neoplasms Associate 22952044
Carcinoma Squamous Cell Associate 28488526
Cerebellar Hypoplasia Associate 37239392
Diabetes Mellitus Associate 37239392
Esophageal Squamous Cell Carcinoma Associate 23955799, 28488526
Genetic Diseases Inborn Associate 37239392, 39766776
Glioblastoma Associate 32897363