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FLASH GENE

Symbol

PTRH2

contributors: mct - updated : 17-01-2013

HGNC name	peptidyl-tRNA hydrolase 2
HGNC id	24265

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	17q23.1      Physical location : 57.774.667 - 57.784.856
Synonym name	Bcl-2 inhibitor of transcription
Synonym symbol(s)	CGI-147, FLJ32471, BIT1, PTH2
EC.number	3.1.1.29

DNA

TYPE	functioning gene
STRUCTURE	10.19 kb     2 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed PTRH2 - V1 - - 2123 - 180 - 2011 21383007 NM_016077 2 - 804 NP_057161 19 179 - 2011 21383007 PTRH2 - V2 lacking an alternate exon

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       predominantly Digestive intestine small intestine     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone       Nervous peripherous

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an N-terminal mitochondria localization sequence
	a C-terminal UPF0099 domain

mono polymer

monomer

HOMOLOGY

interspecies

homolog to murine Ptrh2

Homologene

FAMILY

PTH2 family

CATEGORY

enzyme , regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus,chromatin/chromosome
text	chromosome, pericentric region
	mitochondrial protein that is released into the cytoplasm during apoptosis

basic FUNCTION	promoting caspase-independent apoptosis by regulating the function of two transcriptional regulators, AES and TLE1
	aminoacyl-tRNA hydrolase activity
	mitochondrial protein that induces caspase-independent apoptosis upon its release into the cytoplasm
	mitochondrial protein that functions as a peptidyl-tRNA hydrolase, but, when released into the cytoplasm, it elicits apoptosis
	released into the cytosol during anoikis and is uniquely regulated by integrin-mediated attachment
	effector of anoikis (cell death due to loss of attachment) in suspended cells

CELLULAR PROCESS	cell life, cell death/apoptosis
	nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

	part of an integrin-specific signaling pathway
	PTRH2 signaling pathway that acts through ERK regulation

a component

cytoplasmic PTRH2 forms a complex with AES, a small Groucho/transducin-like enhancer of split (TLE) protein, and induces cell death with characteristics of caspase-independent apoptosis

INTERACTION

DNA

binding

RNA

small molecule

protein	negative regulator of Erk and the target of PTRH2 is an Erk phosphatase
	PTRH2-mediated regulation of BCL-2 was dependent on focal adhesion kinase, PI3K, and AKT1

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   conferred cancer cells with enhanced anoikis resistance, adhesive and migratory properties in vitro and specifically potentiated tumor metastasis

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer     therapeutic importance of restoring PTRH2 expression in cancer cells to circumvent metastasis at least in part through inhibition of the Erk pathway

ANIMAL & CELL MODELS