Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

PTPRO

contributors: mct - updated : 01-10-2013

HGNC name	protein tyrosine phosphatase, receptor type, O
HGNC id	9678

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	NPHS6 nephrotic syndrome type 6
Location	12p12.3      Physical location : 15.475.486 - 15.750.335
Synonym name	phosphotyrosine phosphatase U2
	glomerular epithelial protein-1
	protein tyrosine phosphatase PTP-U2
Synonym symbol(s)	PTPU2, GLEPP1, NPHS6, PTP-OC, PTP-U2, PTPROT, R-PTP-O
EC.number	3.1.3.48

DNA

TYPE	functioning gene
STRUCTURE	276.07 kb     15 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

confirmed

RNA

TRANSCRIPTS	type	messenger

text	six variants, four isoforms

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_030667 27 - 6379 NP_109592 - 1216 renal glomerulus,brain 1995 7665166 NM_002848 26 - 6295 NP_002839 200 1188 renal glomerulus,brain 1995 7665166 NM_030671 14 - 5002 NP_109596 - 405 B-lymhpoid organs 1995 7665166 NM_030670 13 - 4918 NP_109595 - 377 B-lymphoid organs, macrophages 2011 22001392 truncated isoform down-regulated in chronic lymphocytic leukemia (CLL) NM_030668 14 - 3986 NP_109593 - 377 B-lymphoid organs 1995 7665166 NM_030669 15 - 3970 NP_109594 - 405 B-lymphoid organs 1995 7665166

EXPRESSION

Type

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         Nervous brain         Mus musculus Fetal   ganglia sensory ganglia dorsal root     Mus musculus Adult Olfactory (smell) olfactory bulb       highly Mus musculus Adult Respiratory lung         Urinary kidney nephron renal capsule glomerulus   Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow       Muscular striatum skeletal

cells

System Cell Pubmed Species Stage Rna symbol Urinary podocyte Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a single catalytic domain in its cytoplasmic region
	multiple fibronectin type III-like domains in its extracellular region
	a hydrophobic transmembrane (TM)
	a single intracellular tyrosine phosphatase domain

HOMOLOGY

intraspecies

homolog to PTPU2-LSB from glomerular epithelial podocyte membrane protein

Homologene

FAMILY

PTPR family

CATEGORY

enzyme , tumor suppressor

SUBCELLULAR LOCALIZATION	plasma membrane
text	Type I membrane protein

basic FUNCTION	involved in cellular differentiation processes
	may be involved in axon guidance both as a ligand and as a neuronal receptor
	implicated in the guidance of motor and retinal axons
	required for peptidergic differentiation and process outgrowth of sensory neurons, as well as mature sensory function
	implicated in axon growth and guidance during embryonic development
	is a potential target gene of Wnt/CTNNB1 signaling and may function as a novel receptor for WNT
	role of PTPRO in learning and memory
	is a novel regulator of mammary epithelial transformation, a potential tumor suppressor, and a predictive biomarker for breast cancer

CELLULAR PROCESS	cell life, differentiation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	role of TCL1A in PTPROt suppression, important in the pathogenesis ofchronic lymphocytic leukemia (CLL)
	ERBB2/HER2 is a direct substrate of PTPRO and loss of PTPRO increased ERBB2-induced cell proliferation and transformation, together with tyrosine phosphorylation of ERBB2

cell & other

REGULATION

induced by

Wnt/CTNNB1 signaling in a T cell factor/lymphoid enhancer factor dependent manner

ASSOCIATED DISORDERS

corresponding disease(s)

NPHS6

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   in primary lung cancer by hypermethylation

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	PTPRO promoter hypermethylation as a potential biomarker in esophageal squamous cell carcinoma (ESCC)
	PTPRO expression may be a useful marker of podocyte injury in immunoglobulin A nephropathy (IgAN), and may be predictive of clinical and pathological severity
Therapy target

ANIMAL & CELL MODELS

in Ptpro mutant mice, subsets of trigeminal ganglion neurons grow longer and more elaborate axonal branches