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PTRH2 (peptidyl-tRNA hydrolase 2)

Identity

Alias_symbol (synonym)BIT1
CGI-147
PTH2
CFAP37
Other aliasIMNEPD
PTH
PTH 2
HGNC (Hugo) PTRH2
LocusID (NCBI) 51651
Atlas_Id 51070
Location 17q23.1  [Link to chromosome band 17q23]
Location_base_pair Starts at 59697306 and ends at 59707598 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CLTC (17q23.1) / PTRH2 (17q23.1)FAF1 (1p32.3) / PTRH2 (17q23.1)GZF1 (20p11.21) / PTRH2 (17q23.1)
PTRH2 (17q23.1) / BFAR (16p13.12)PTRH2 (17q23.1) / PEX5L (3q26.33)PTRH2 (17q23.1) / PRKCB (16p12.2)
PTRH2 (17q23.1) / STXBP4 (17q22)VMP1 (17q23.1) / PTRH2 (17q23.1)CLTC 17q23.1 / PTRH2 17q23.1
FAF1 1p32.3 / PTRH2 17q23.1PTRH2 17q23.1 / PEX5L 3q26.33PTRH2 17q23.1 / STXBP4 17q22
VMP1 17q23.1 / PTRH2 17q23.1

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)PTRH2   24265
Cards
Entrez_Gene (NCBI)PTRH2  51651  peptidyl-tRNA hydrolase 2
AliasesBIT1; CFAP37; CGI-147; IMNEPD; 
PTH; PTH; PTH2
GeneCards (Weizmann)PTRH2
Ensembl hg19 (Hinxton)ENSG00000141378 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000141378 [Gene_View]  chr17:59697306-59707598 [Contig_View]  PTRH2 [Vega]
ICGC DataPortalENSG00000141378
TCGA cBioPortalPTRH2
AceView (NCBI)PTRH2
Genatlas (Paris)PTRH2
WikiGenes51651
SOURCE (Princeton)PTRH2
Genetics Home Reference (NIH)PTRH2
Genomic and cartography
GoldenPath hg38 (UCSC)PTRH2  -     chr17:59697306-59707598 -  17q23.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PTRH2  -     17q23.1   [Description]    (hg19-Feb_2009)
EnsemblPTRH2 - 17q23.1 [CytoView hg19]  PTRH2 - 17q23.1 [CytoView hg38]
Mapping of homologs : NCBIPTRH2 [Mapview hg19]  PTRH2 [Mapview hg38]
OMIM608625   616263   
Gene and transcription
Genbank (Entrez)AF151905 AK057033 AK098219 AL137322 BC006807
RefSeq transcript (Entrez)NM_001015509 NM_016077
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PTRH2
Cluster EST : UnigeneHs.12677 [ NCBI ]
CGAP (NCI)Hs.12677
Alternative Splicing GalleryENSG00000141378
Gene ExpressionPTRH2 [ NCBI-GEO ]   PTRH2 [ EBI - ARRAY_EXPRESS ]   PTRH2 [ SEEK ]   PTRH2 [ MEM ]
Gene Expression Viewer (FireBrowse)PTRH2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51651
GTEX Portal (Tissue expression)PTRH2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y3E5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y3E5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y3E5
Splice isoforms : SwissVarQ9Y3E5
Catalytic activity : Enzyme3.1.1.29 [ Enzyme-Expasy ]   3.1.1.293.1.1.29 [ IntEnz-EBI ]   3.1.1.29 [ BRENDA ]   3.1.1.29 [ KEGG ]   
PhosPhoSitePlusQ9Y3E5
Domains : Interpro (EBI)Pep_tRNA_hydro_II_dom    PTH2   
Domain families : Pfam (Sanger)PTH2 (PF01981)   
Domain families : Pfam (NCBI)pfam01981   
Conserved Domain (NCBI)PTRH2
DMDM Disease mutations51651
Blocks (Seattle)PTRH2
PDB (SRS)1Q7S   
PDB (PDBSum)1Q7S   
PDB (IMB)1Q7S   
PDB (RSDB)1Q7S   
Structural Biology KnowledgeBase1Q7S   
SCOP (Structural Classification of Proteins)1Q7S   
CATH (Classification of proteins structures)1Q7S   
SuperfamilyQ9Y3E5
Human Protein AtlasENSG00000141378
Peptide AtlasQ9Y3E5
HPRD12273
IPIIPI00032903   IPI00065484   IPI00555597   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y3E5
IntAct (EBI)Q9Y3E5
FunCoupENSG00000141378
BioGRIDPTRH2
STRING (EMBL)PTRH2
ZODIACPTRH2
Ontologies - Pathways
QuickGOQ9Y3E5
Ontology : AmiGOaminoacyl-tRNA hydrolase activity  protein binding  mitochondrion  mitochondrion  cytosol  apoptotic process  negative regulation of gene expression  membrane  positive regulation of anoikis  negative regulation of anoikis  
Ontology : EGO-EBIaminoacyl-tRNA hydrolase activity  protein binding  mitochondrion  mitochondrion  cytosol  apoptotic process  negative regulation of gene expression  membrane  positive regulation of anoikis  negative regulation of anoikis  
NDEx NetworkPTRH2
Atlas of Cancer Signalling NetworkPTRH2
Wikipedia pathwaysPTRH2
Orthology - Evolution
OrthoDB51651
GeneTree (enSembl)ENSG00000141378
Phylogenetic Trees/Animal Genes : TreeFamPTRH2
HOVERGENQ9Y3E5
HOGENOMQ9Y3E5
Homologs : HomoloGenePTRH2
Homology/Alignments : Family Browser (UCSC)PTRH2
Gene fusions - Rearrangements
Fusion : MitelmanCLTC/PTRH2 [17q23.1/17q23.1]  [t(17;17)(q23;q23)]  
Fusion : MitelmanFAF1/PTRH2 [1p32.3/17q23.1]  [t(1;17)(p32;q23)]  
Fusion : MitelmanPTRH2/PEX5L [17q23.1/3q26.33]  [t(3;17)(q26;q23)]  
Fusion : MitelmanPTRH2/STXBP4 [17q23.1/17q22]  [t(17;17)(q22;q23)]  
Fusion : MitelmanVMP1/PTRH2 [17q23.1/17q23.1]  [t(17;17)(q23;q23)]  
Fusion: TCGACLTC 17q23.1 PTRH2 17q23.1 LUAD
Fusion: TCGAFAF1 1p32.3 PTRH2 17q23.1 BRCA
Fusion: TCGAPTRH2 17q23.1 PEX5L 3q26.33 BRCA
Fusion: TCGAPTRH2 17q23.1 STXBP4 17q22 BRCA
Fusion: TCGAVMP1 17q23.1 PTRH2 17q23.1 HNSC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPTRH2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PTRH2
dbVarPTRH2
ClinVarPTRH2
1000_GenomesPTRH2 
Exome Variant ServerPTRH2
ExAC (Exome Aggregation Consortium)PTRH2 (select the gene name)
Genetic variants : HAPMAP51651
Genomic Variants (DGV)PTRH2 [DGVbeta]
DECIPHERPTRH2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPTRH2 
Mutations
ICGC Data PortalPTRH2 
TCGA Data PortalPTRH2 
Broad Tumor PortalPTRH2
OASIS PortalPTRH2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPTRH2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPTRH2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch PTRH2
DgiDB (Drug Gene Interaction Database)PTRH2
DoCM (Curated mutations)PTRH2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PTRH2 (select a term)
intoGenPTRH2
Cancer3DPTRH2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608625    616263   
Orphanet23676   
MedgenPTRH2
Genetic Testing Registry PTRH2
NextProtQ9Y3E5 [Medical]
TSGene51651
GENETestsPTRH2
Huge Navigator PTRH2 [HugePedia]
snp3D : Map Gene to Disease51651
BioCentury BCIQPTRH2
ClinGenPTRH2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51651
Chemical/Pharm GKB GenePA143485586
Clinical trialPTRH2
Miscellaneous
canSAR (ICR)PTRH2 (select the gene name)
Probes
Litterature
PubMed27 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePTRH2
EVEXPTRH2
GoPubMedPTRH2
iHOPPTRH2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:33:34 CEST 2017

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