PTPRN protein tyrosine phosphatase, receptor type, N [Homo sapiens] - Gene

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Summary

Official Symbol: PTPRNprovided by HGNC
Official Full Name: protein tyrosine phosphatase, receptor type, Nprovided by HGNC
Primary source: HGNC:9676
See related: Ensembl:ENSG00000054356; HPRD:03466; MIM:601773; Vega:OTTHUMG00000133129
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: IA2; IA-2; ICA512; R-PTP-N; IA-2/PTP; FLJ16131
Summary: The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and a single catalytic domain, and thus represents a receptor-type PTP. This PTP was found to be an autoantigen that is reactive with insulin-dependent diabetes mellitus (IDDM) patient sera, and thus may be a potential target of autoimmunity in diabetes mellitus. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Dec 2010]

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Genomic context

Location :: 2q35-q36.1

Sequence :: Chromosome: 2; NC_000002.11 (220154345..220174295, complement)

See PTPRN in Epigenomics, MapViewer

Chromosome 2 - NC_000002.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

analysis of protein-protein interactions in crystals of the human receptor-type protein tyrosine phosphatase ICA512 ectodomain
Title: Protein-protein interactions in crystals of the human receptor-type protein tyrosine phosphatase ICA512 ectodomain.
ZnT8A, GADA and IA-2A are autoantibodies that may have a role in successful pancreas graft survival
Title: Zinc transporter 8 autoantibodies increase the predictive value of islet autoantibodies for function loss of technically successful solitary pancreas transplant.
In families with type 1 diabetes, there was a female predominance and more family history of associated autoimmune diseases (AAIDs) in the group with AAIDs, and less frequent anti-IA-2 antibodies
Title: Predictors of associated autoimmune diseases in families with type 1 diabetes: results from the Type 1 Diabetes Genetics Consortium.
Longer survival was associated with hypomethylation at specific CpG sites (e.g. GREB1, TGIF and TOB1) and hypermethylation in other genes (e.g. TMCO5, PTPRN and GUCY2C).
Title: Progression-free survival in ovarian cancer is reflected in epigenetic DNA methylation profiles.
Studies indicate that T1DM can be detected by determining four autoantibodies, namely those antibodies against insulin, glutamic acid decarboxylase 65, insulinoma antigen (IA)-2 (ICA512) and the zinc transporter ZnT8.
Title: Prediction and prevention of Type 1 diabetes mellitus.
Risk of autoantibody seroconversion among children followed in DPT-1 is age dependent
Title: Islet autoantibody seroconversion in the DPT-1 study: justification for repeat screening throughout childhood.
Data show that significantly increased expression of MCP-1, IL-2 and PTPR-N was observed in Tourette's syndrome cases.
Title: Elevated expression of MCP-1, IL-2 and PTPR-N in basal ganglia of Tourette syndrome cases.
T cells stimulated in vitro by the IA-2 epitope express IFN-gamma when restimulated by the similar rotavirus VP7 peptide.
Title: Evidence for molecular mimicry between human T cell epitopes in rotavirus and pancreatic islet autoantigens.
Report a chimeric assay providing an efficient and economical technique to screen for islet autoantibodies reacting with IA-2 and ZnT8 in type 1 diabetes mellitus.
Title: Triple chimeric islet autoantigen IA2-ZnT8WR to facilitate islet autoantibody determination.
The study identifies a region of IA-2 frequently recognised by antibodies in Type 1 diabetes and demonstrates that these responses are associated with T-cells secreting IL-10 in response to a neighbouring determinant.
Title: Autoantibodies and associated T-cell responses to determinants within the 831-860 region of the autoantigen IA-2 in Type 1 diabetes.

Submit: New GeneRIF Correction See all (22)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
Q16849	Q8WXG6	MADD	HPRD	PubMed
Q16849	P29475	NOS1	HPRD	PubMed
Q16849	P62937	PPIA	HPRD	PubMed
Q16849	Q13332	PTPRS	HPRD	PubMed
Q16849	O14522	PTPRT	HPRD	PubMed
Q16849	Q13425	SNTB2	HPRD	PubMed
Q16849	Q92543	SNX19	HPRD	PubMed
Q16849	Q9H254	SPTBN4	HPRD	PubMed
Q16849	Q9NRR5	UBQLN4	HPRD	PubMed
BioGRID:111762	BioGRID:107274	CAPN2	BioGRID	PubMed	Biochemical Activity
BioGRID:111762	BioGRID:112528	SNTB2	BioGRID	PubMed	Reconstituted Complex
BioGRID:111762	BioGRID:121751	SPTBN4	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid

Function	Evidence Code	Pubs
GTPase binding	IEA Inferred from Electronic Annotation more info
hydrolase activity	IEA Inferred from Electronic Annotation more info
phosphatase activity	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein tyrosine phosphatase activity	IEA Inferred from Electronic Annotation more info
receptor activity	IEA Inferred from Electronic Annotation more info
transmembrane receptor protein tyrosine phosphatase activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
cytokine-mediated signaling pathway	IEA Inferred from Electronic Annotation more info
response to cAMP	IEA Inferred from Electronic Annotation more info
response to estrogen stimulus	IEA Inferred from Electronic Annotation more info
response to glucose stimulus	IEA Inferred from Electronic Annotation more info
response to insulin stimulus	IEA Inferred from Electronic Annotation more info
response to reactive oxygen species	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
integral to plasma membrane	TAS Traceable Author Statement more info	PubMed
membrane	IEA Inferred from Electronic Annotation more info
membrane fraction	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: receptor-type tyrosine-protein phosphatase-like N

Names: receptor-type tyrosine-protein phosphatase-like N; ICA 512; PTP IA-2; islet cell antigen 2; islet cell antigen 512; islet cell autoantigen 3; protein tyrosine phosphatase-like N

NP_001186692.1

EC 3.1.3.48

NP_001186693.1

EC 3.1.3.48

NP_002837.1

EC 3.1.3.48

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_029546.1 RefSeqGene

Range

5001..24951

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001199763.1 → NP_001186692.1 receptor-type tyrosine-protein phosphatase-like N isoform 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AC114803, BC070053, DC344431

Consensus CDS

CCDS56168.1

Related

ENSP00000386638, OTTHUMP00000205824, ENST00000409251, OTTHUMT00000335543

Conserved Domains (3) summary

cd00047
Location:707 – 939
Blast Score: 741

PTPc; Protein tyrosine phosphatases (PTP) catalyze the dephosphorylation of phosphotyrosine peptides; they regulate phosphotyrosine levels in signal transduction pathways. The depth of the active site cleft renders the enzyme specific for phosphorylated Tyr ...

pfam11548
Location:468 – 529
Blast Score: 242

Receptor_IA-2; Protein-tyrosine phosphatase receptor IA-2

smart00194
Location:680 – 939
Blast Score: 839

PTPc; Protein tyrosine phosphatase, catalytic domain
NM_001199764.1 → NP_001186693.1 receptor-type tyrosine-protein phosphatase-like N isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. These differences causes translation initiation at a downstream AUG and results an isoform (3) with a shorter N-terminus, compared to isoform 1.

Source sequence(s)

AC114803, AK296335, BC070053, DC352946

Consensus CDS

CCDS56167.1

UniProtKB/TrEMBL

B4DK12

UniProtKB/TrEMBL

F5GZS3

Related

ENSP00000444244, ENST00000537666

Conserved Domains (3) summary

cd00047
Location:646 – 878
Blast Score: 744

PTPc; Protein tyrosine phosphatases (PTP) catalyze the dephosphorylation of phosphotyrosine peptides; they regulate phosphotyrosine levels in signal transduction pathways. The depth of the active site cleft renders the enzyme specific for phosphorylated Tyr ...

pfam11548
Location:378 – 468
Blast Score: 399

Receptor_IA-2; Protein-tyrosine phosphatase receptor IA-2

smart00194
Location:619 – 878
Blast Score: 841

PTPc; Protein tyrosine phosphatase, catalytic domain
NM_002846.3 → NP_002837.1 receptor-type tyrosine-protein phosphatase-like N isoform 1 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

BC007713, DC344431, L18983, X62899

Consensus CDS

CCDS2440.1

UniProtKB/Swiss-Prot

Q16849

UniProtKB/TrEMBL

Q96IA0

Related

ENSP00000295718, OTTHUMP00000164170, ENST00000295718, OTTHUMT00000256819

Conserved Domains (3) summary

cd00047
Location:736 – 968
Blast Score: 742

PTPc; Protein tyrosine phosphatases (PTP) catalyze the dephosphorylation of phosphotyrosine peptides; they regulate phosphotyrosine levels in signal transduction pathways. The depth of the active site cleft renders the enzyme specific for phosphorylated Tyr ...

pfam11548
Location:468 – 558
Blast Score: 400

Receptor_IA-2; Protein-tyrosine phosphatase receptor IA-2

smart00194
Location:709 – 968
Blast Score: 840

PTPc; Protein tyrosine phosphatase, catalytic domain

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000002.11 Reference GRCh37.p5 Primary Assembly

Range

220154345..220174295, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000134.1 Alternate HuRef

Range

212007432..212027331, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC114803.5	AAY24038.1
genomic	AF042285.4	None
genomic	CH471063.1	EAW70724.1
		EAW70725.1
		EAW70726.1
mRNA	AB209368.1	BAD92605.1
mRNA	AK054765.1	None
mRNA	AK122679.1	BAG53662.1
mRNA	AK291469.1	BAF84158.1
mRNA	AK294490.1	BAG57712.1
mRNA	AK296335.1	BAG59024.1
mRNA	AK314574.1	None
mRNA	BC007713.2	AAH07713.2
mRNA	BC070053.1	AAH70053.1
mRNA	BT006975.1	AAP35621.1
mRNA	DC344431.1	None
mRNA	DC352946.1	None
mRNA	L18983.1	AAA90974.1
mRNA	X62899.2	CAA44688.2

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
Q16849.1	GenPept	UniProtKB/Swiss-Prot:Q16849
Q59FU1	GenPept	UniProtKB/TrEMBL:Q59FU1
Q7KZS4	GenPept	UniProtKB/TrEMBL:Q7KZS4
Q96IA0	GenPept	UniProtKB/TrEMBL:Q96IA0