Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	51651
Gene name	Peptidyl-tRNA hydrolase 2
Gene symbol	PTRH2
Synonyms (NCBI Gene)	BIT1CFAP37CGI-147IMNEPDPTHPTH 2PTH2
Chromosome	17
Chromosome location	17q23.1
Summary	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

Show/Hide all (5)

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

113

Show/Hide all (113)

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
MIRT678295	hsa-miR-940	HITS-CLIP	23824327
MIRT678294	hsa-miR-3929	HITS-CLIP	23824327
MIRT678293	hsa-miR-4419b	HITS-CLIP	23824327
MIRT678292	hsa-miR-4478	HITS-CLIP	23824327
MIRT678291	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT678290	hsa-miR-3937	HITS-CLIP	23824327
MIRT678289	hsa-miR-4649-3p	HITS-CLIP	23824327
MIRT678288	hsa-miR-1827	HITS-CLIP	23824327
MIRT678287	hsa-miR-485-5p	HITS-CLIP	23824327
MIRT678286	hsa-miR-6884-5p	HITS-CLIP	23824327
MIRT678285	hsa-miR-7160-5p	HITS-CLIP	23824327
MIRT678284	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT678283	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT678282	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT678281	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT678280	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT678279	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT678278	hsa-miR-7977	HITS-CLIP	23824327
MIRT678277	hsa-miR-1273e	HITS-CLIP	23824327
MIRT678276	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT678275	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT678274	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT678273	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT678272	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT678271	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT678270	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT678269	hsa-miR-3689c	HITS-CLIP	23824327
MIRT678268	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT678267	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT678266	hsa-miR-450a-1-3p	HITS-CLIP	23824327
MIRT678265	hsa-miR-3122	HITS-CLIP	23824327
MIRT678264	hsa-miR-3913-5p	HITS-CLIP	23824327
MIRT678263	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT678262	hsa-miR-6513-5p	HITS-CLIP	23824327
MIRT678261	hsa-miR-665	HITS-CLIP	23824327
MIRT678297	hsa-miR-6808-5p	HITS-CLIP	23824327
MIRT678296	hsa-miR-6893-5p	HITS-CLIP	23824327
MIRT678295	hsa-miR-940	HITS-CLIP	23824327
MIRT678294	hsa-miR-3929	HITS-CLIP	23824327
MIRT678293	hsa-miR-4419b	HITS-CLIP	23824327
MIRT678292	hsa-miR-4478	HITS-CLIP	23824327
MIRT678291	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT678290	hsa-miR-3937	HITS-CLIP	23824327
MIRT678289	hsa-miR-4649-3p	HITS-CLIP	23824327
MIRT678288	hsa-miR-1827	HITS-CLIP	23824327
MIRT678287	hsa-miR-485-5p	HITS-CLIP	23824327
MIRT678286	hsa-miR-6884-5p	HITS-CLIP	23824327
MIRT678285	hsa-miR-7160-5p	HITS-CLIP	23824327
MIRT678284	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT678283	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT678282	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT678281	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT678280	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT678279	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT678278	hsa-miR-7977	HITS-CLIP	23824327
MIRT678277	hsa-miR-1273e	HITS-CLIP	23824327
MIRT678276	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT678275	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT678274	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT678273	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT678272	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT678271	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT678270	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT678269	hsa-miR-3689c	HITS-CLIP	23824327
MIRT678268	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT678267	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT678266	hsa-miR-450a-1-3p	HITS-CLIP	23824327
MIRT678265	hsa-miR-3122	HITS-CLIP	23824327
MIRT678264	hsa-miR-3913-5p	HITS-CLIP	23824327
MIRT678263	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT678262	hsa-miR-6513-5p	HITS-CLIP	23824327
MIRT678261	hsa-miR-665	HITS-CLIP	23824327
MIRT1276694	hsa-miR-3134	CLIP-seq
MIRT1276695	hsa-miR-3660	CLIP-seq
MIRT1276696	hsa-miR-4438	CLIP-seq
MIRT1276697	hsa-miR-4464	CLIP-seq
MIRT1276698	hsa-miR-4526	CLIP-seq
MIRT1276699	hsa-miR-4534	CLIP-seq
MIRT1276700	hsa-miR-4748	CLIP-seq
MIRT1276701	hsa-miR-4773	CLIP-seq
MIRT1276702	hsa-miR-4802-5p	CLIP-seq
MIRT739873	hsa-miR-513c	CLIP-seq
MIRT739874	hsa-miR-514b-5p	CLIP-seq
MIRT2081355	hsa-miR-1262	CLIP-seq
MIRT2081356	hsa-miR-3140-3p	CLIP-seq
MIRT2081357	hsa-miR-3185	CLIP-seq
MIRT2081358	hsa-miR-382	CLIP-seq
MIRT2081359	hsa-miR-4259	CLIP-seq
MIRT1276697	hsa-miR-4464	CLIP-seq
MIRT2081360	hsa-miR-4701-3p	CLIP-seq
MIRT1276700	hsa-miR-4748	CLIP-seq
MIRT739873	hsa-miR-513c	CLIP-seq
MIRT739874	hsa-miR-514b-5p	CLIP-seq
MIRT1276694	hsa-miR-3134	CLIP-seq
MIRT2081356	hsa-miR-3140-3p	CLIP-seq
MIRT1276695	hsa-miR-3660	CLIP-seq
MIRT1276696	hsa-miR-4438	CLIP-seq
MIRT1276698	hsa-miR-4526	CLIP-seq
MIRT1276699	hsa-miR-4534	CLIP-seq
MIRT1276702	hsa-miR-4802-5p	CLIP-seq
MIRT1276694	hsa-miR-3134	CLIP-seq
MIRT1276696	hsa-miR-4438	CLIP-seq
MIRT1276699	hsa-miR-4534	CLIP-seq
MIRT1276702	hsa-miR-4802-5p	CLIP-seq
MIRT1276694	hsa-miR-3134	CLIP-seq
MIRT1276696	hsa-miR-4438	CLIP-seq
MIRT1276699	hsa-miR-4534	CLIP-seq
MIRT1276702	hsa-miR-4802-5p	CLIP-seq

Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004045	Function	Peptidyl-tRNA hydrolase activity	IBA
GO:0004045	Function	Peptidyl-tRNA hydrolase activity	IEA
GO:0004045	Function	Peptidyl-tRNA hydrolase activity	IMP	14660562
GO:0005515	Function	Protein binding	IPI	15006356, 21383007, 22952044, 28514442, 33961781
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	15006356
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	IMP	22952044
GO:0005741	Component	Mitochondrial outer membrane	IDA	27184847
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IMP	15006356, 22952044
GO:0006915	Process	Apoptotic process	IEA
GO:0010629	Process	Negative regulation of gene expression	IMP	15006356
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:2000210	Process	Positive regulation of anoikis	IBA
GO:2000210	Process	Positive regulation of anoikis	IMP	15006356, 22952044
GO:2000811	Process	Negative regulation of anoikis	IBA
GO:2000811	Process	Negative regulation of anoikis	IMP	21383007

MIM	HGNC	e!Ensembl
608625	24265	ENSG00000141378

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

MPSKSLVMEYLAHPSTLGLAVGVACGMCLGWSLRVCFGMLPKSKTSKTHTDTESEASILG
DSGEYKMILVVRNDLKMGKGKVAAQCSHAAVSAYKQIQRRNPEMLKQWEYCGQPKVVVKA
PDEETLIALLAHAKMLGLTVSLIQDAGRTQIAPGSQTVLGIGPGPADLIDKVTGHLKLY

Sequence length

179

Interactions

View interactions

	Reactome
			Ub-specific processing proteases

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cerebellar ataxia	Pathogenic	rs730882234	RCV000162156
Global developmental delay	Pathogenic	rs730882234	RCV000162156
Hearing impairment	Pathogenic	rs730882234	RCV000162156
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	Pathogenic; Likely pathogenic	rs730882234, rs2033474535	RCV000162247 RCV001293457
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1	Likely pathogenic; Pathogenic	rs777064652, rs730882234, rs1268684924	RCV001799762 RCV001799627 RCV001799712

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
PTRH2-related disorder	Likely benign; Benign	rs1037221821, rs147437736, rs76310651	RCV003936991 RCV003959963 RCV003917961

Show/Hide Text Mining Associations (22)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Hand Deformities	Associate	37239392
Hypothyroidism	Associate	37239392
Liver Diseases	Associate	27129381, 37239392
Lung Neoplasms	Inhibit	27655370
Lung Neoplasms	Associate	29170133
Lymphatic Metastasis	Associate	23955799
Neoplasms	Associate	23955799
Neoplasms	Inhibit	27655370, 29170133
Nervous System Diseases	Associate	39766776
Neuroblastoma	Associate	32707690
Pancreatitis	Associate	37239392
Schizophrenia	Associate	37552420

PTRH2 (peptidyl-tRNA hydrolase 2)