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FLASH GENE

Symbol

PTPRN

contributors: mct - updated : 19-09-2018

HGNC name	protein tyrosine phosphatase, receptor type, N
HGNC id	9676

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
SPECIAL FEATURE	arranged in tandem
text	tandemly arranged with RESP18 within a 45 kb region on human chromosome 2 and share common intron-exon boundaries (Zhang 2007)
STRUCTURE	19.95 kb     23 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	Binding site
text structure	minimal promoter region with a short bp region (-216 to +115), that binds to two CREB-related binding sites, involved in transcriptional regulation of PTPRN

MAPPING

cloned

Y

linked

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002846 23 - 3801 NP_002837 - 979 - 2000 11043403 NM_001199763 22 - 3712 NP_001186692 - 950 - 2000 11043403 NM_001199764 23 - 3570 NP_001186693 - 889 - 2000 11043403

EXPRESSION

Type	restricted

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 Digestive stomach         Rattus norvegicus endocrine brain diencephalon pituitary     Endocrine pancreas         Visual eye

cells

System Cell Pubmed Species Stage Rna symbol Endocrine islet cell (alpha,beta...) not specific neuroendocrine cell

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	major autoantigenic determinants located at the C terminus
	two tandems protein-tyrosine phosphatase domain
	a RESP18HD, a domain comprising residues 35 to 131 and homologous to regulated endocrine-specific protein 18 (RESP18)

HOMOLOGY

interspecies

homolog to murine Ia2

Homologene

FAMILY

PTPR family

CATEGORY

enzyme , transport carrier

SUBCELLULAR LOCALIZATION	plasma membrane,junction
	intracellular
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,cytosolic,granule
	intracellular,nucleus
text	type I transmembrane protein
	during insulin secretion, the cytoplasmic domain of PTPRN is cleaved and relocated to the nucleus, where it stimulates the transcription of the insulin gene
	located in secretory granules of neuroendocrine cells

basic FUNCTION	tyrosine phosphatase receptor involved in neuroendocrine secretory processes (neurosecretory granules biogenesis, regulated exocytosis)
	regulator of cyclins D and beta-cell proliferation through STATs and may have implication for diabetes therapy
	dense core vesicle (DCV) transmembrane protein involved in insulin secretion (Zhang 2007)
	PTPRN, PTPRN2 function is an essential regulator of autocrine insulin action in pancreatic beta-cells
	with PTPRN2, upregulate beta-cell transcription and proliferation (Suckale 2010)
	PTPRN, PTPRN2 are unique neuroendocrine-specific protein tyrosine phosphatases (PTPs)
	is required for active avoidance learning

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

exocytosis transport

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	interacting with Cyclin D1 and D2 (activates cyclin D1 and D2)
	PTPRN is an intrinsic granule membrane protein, whose cytosolic domain binds SNTB2, an F-actin-associated protein, and is cleaved upon granule exocytosis
	RESP18 homology domain (HD) is a key determinant for PTPRN granule targeting

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     deletion of PTPRN, PTPRN2, structural proteins of secretory vesicles and modulators of neuroendocrine secretion, has a profound effect on the circadian system

Susceptibility

to insulin dependent diabetes mellitus encoding an autoantigen

Variant & Polymorphism

Candidate gene
Marker	with PTPRN2 are closely related proteins that were first identified as targets of autoantibodies in Type I diabetics (Caromile 2010)
Therapy target

ANIMAL & CELL MODELS