• Gene id: 51651

Gene Summary

• Gene Symbol: PTRH2   Gene   UCSC   Ensembl
• Aliases: BIT1, CFAP37, CGI-147, IMNEPD, PTH, PTH 2, PTH2
• Gene name: peptidyl-tRNA hydrolase 2
• Alternate names: peptidyl-tRNA hydrolase 2, mitochondrial, bcl-2 inhibitor of transcription 1, cilia and flagella associated protein 37,
• Gene location: 17q23.1 (59707625: 59697305)     Exons: 3     NC_000017.11
• Gene summary(Entrez): 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
• OMIM: 608625

Protein Summary

• Protein general information: Q9Y3E5  
  • Name: Peptidyl tRNA hydrolase 2, mitochondrial (PTH 2) (EC 3.1.1.29) (Bcl 2 inhibitor of transcription 1)
  • Length: 179  
  • Mass: 19194
• Sequence:

  MPSKSLVMEYLAHPSTLGLAVGVACGMCLGWSLRVCFGMLPKSKTSKTHTDTESEASILGDSGEYKMILVVRNDL
  KMGKGKVAAQCSHAAVSAYKQIQRRNPEMLKQWEYCGQPKVVVKAPDEETLIALLAHAKMLGLTVSLIQDAGRTQ
  IAPGSQTVLGIGPGPADLIDKVTGHLKLY

• Structural information:
  • Interpro: IPR023476  IPR002833  
  • CDD: cd02430
  • PDB: 1Q7S
  • PDBsum: 1Q7S
  • STRING: ENSP00000464327
• Other Databases: GeneCards:  PTRH2  Malacards:  PTRH2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004045	aminoacyl-tRNA hydrolase activity	IBA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:2000210	positive regulation of anoikis	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:2000811	negative regulation of anoikis	IBA	biological process
GO:0004045	aminoacyl-tRNA hydrolase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0004045	aminoacyl-tRNA hydrolase activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0004045	aminoacyl-tRNA hydrolase activity	IMP	molecular function
GO:0005739	mitochondrion	IDA	cellular component
GO:2000210	positive regulation of anoikis	IMP	biological process
GO:0005829	cytosol	IMP	cellular component
GO:0010629	negative regulation of gene expression	IMP	biological process
GO:0005739	mitochondrion	IMP	cellular component
GO:2000210	positive regulation of anoikis	IMP	biological process
GO:0005829	cytosol	IMP	cellular component
GO:2000811	negative regulation of anoikis	IMP	biological process
GO:0016020	membrane	HDA	cellular component

Diseases

Associated diseases	References
Infantile-onset multisystem neurologic, endocrine, and pancreatic disease	KEGG:H02391
Infantile-onset multisystem neurologic, endocrine, and pancreatic disease	KEGG:H02391
Male factor infertility	MIK: 29961538
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq