Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5798
Gene name	Protein tyrosine phosphatase receptor type N
Gene symbol	PTPRN
Synonyms (NCBI Gene)	IA-2IA-2/PTPIA2ICA512R-PTP-N
Chromosome	2
Chromosome location	2q35
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 tran

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miRTarBase ID	miRNA	Experiments	Reference
MIRT040943	hsa-miR-18a-3p	CLASH	23622248
MIRT1276354	hsa-miR-2117	CLIP-seq
MIRT1276355	hsa-miR-4273	CLIP-seq
MIRT1276356	hsa-miR-4428	CLIP-seq
MIRT1276357	hsa-miR-4753-3p	CLIP-seq
MIRT1276358	hsa-miR-1301	CLIP-seq
MIRT1276359	hsa-miR-3127-5p	CLIP-seq
MIRT1276360	hsa-miR-4270	CLIP-seq
MIRT1276361	hsa-miR-4441	CLIP-seq
MIRT1276362	hsa-miR-4471	CLIP-seq
MIRT1276363	hsa-miR-4660	CLIP-seq
MIRT1276364	hsa-miR-5047	CLIP-seq
MIRT1552715	hsa-miR-4505	CLIP-seq
MIRT1552716	hsa-miR-541	CLIP-seq
MIRT1552717	hsa-miR-654-5p	CLIP-seq
MIRT2604743	hsa-miR-1244	CLIP-seq
MIRT2604744	hsa-miR-1293	CLIP-seq
MIRT2604745	hsa-miR-138	CLIP-seq
MIRT2604746	hsa-miR-1587	CLIP-seq
MIRT2604747	hsa-miR-185	CLIP-seq
MIRT1276354	hsa-miR-2117	CLIP-seq
MIRT2604748	hsa-miR-3126-5p	CLIP-seq
MIRT2604749	hsa-miR-3151	CLIP-seq
MIRT2604750	hsa-miR-3202	CLIP-seq
MIRT2604751	hsa-miR-34a	CLIP-seq
MIRT2604752	hsa-miR-34c-5p	CLIP-seq
MIRT2604753	hsa-miR-3652	CLIP-seq
MIRT2604754	hsa-miR-3689a-3p	CLIP-seq
MIRT2604755	hsa-miR-3689c	CLIP-seq
MIRT2604756	hsa-miR-377	CLIP-seq
MIRT2604757	hsa-miR-378g	CLIP-seq
MIRT2604758	hsa-miR-4258	CLIP-seq
MIRT1276355	hsa-miR-4273	CLIP-seq
MIRT2604759	hsa-miR-4306	CLIP-seq
MIRT1276356	hsa-miR-4428	CLIP-seq
MIRT2604760	hsa-miR-4430	CLIP-seq
MIRT2604761	hsa-miR-4446-3p	CLIP-seq
MIRT2604762	hsa-miR-4456	CLIP-seq
MIRT2604763	hsa-miR-4468	CLIP-seq
MIRT2604764	hsa-miR-4476	CLIP-seq
MIRT2604765	hsa-miR-4483	CLIP-seq
MIRT2604766	hsa-miR-4492	CLIP-seq
MIRT2604767	hsa-miR-4498	CLIP-seq
MIRT2604768	hsa-miR-449a	CLIP-seq
MIRT2604769	hsa-miR-449b	CLIP-seq
MIRT1552715	hsa-miR-4505	CLIP-seq
MIRT2604770	hsa-miR-4522	CLIP-seq
MIRT2604771	hsa-miR-4644	CLIP-seq
MIRT2604772	hsa-miR-4656	CLIP-seq
MIRT2604773	hsa-miR-4663	CLIP-seq
MIRT2604774	hsa-miR-4675	CLIP-seq
MIRT2604775	hsa-miR-4707-3p	CLIP-seq
MIRT2604776	hsa-miR-4728-5p	CLIP-seq
MIRT2604777	hsa-miR-4741	CLIP-seq
MIRT2604778	hsa-miR-4742-5p	CLIP-seq
MIRT1276357	hsa-miR-4753-3p	CLIP-seq
MIRT2604779	hsa-miR-4777-5p	CLIP-seq
MIRT2604780	hsa-miR-485-5p	CLIP-seq
MIRT2604781	hsa-miR-486-3p	CLIP-seq
MIRT2604782	hsa-miR-503	CLIP-seq
MIRT2604783	hsa-miR-518d-5p	CLIP-seq
MIRT2604784	hsa-miR-519b-5p	CLIP-seq
MIRT2604785	hsa-miR-519c-5p	CLIP-seq
MIRT2604786	hsa-miR-520c-5p	CLIP-seq
MIRT2604787	hsa-miR-526a	CLIP-seq
MIRT1552716	hsa-miR-541	CLIP-seq
MIRT2604788	hsa-miR-548n	CLIP-seq
MIRT2604789	hsa-miR-583	CLIP-seq
MIRT1552717	hsa-miR-654-5p	CLIP-seq
MIRT2604790	hsa-miR-762	CLIP-seq
MIRT2604743	hsa-miR-1244	CLIP-seq
MIRT2689112	hsa-miR-1268	CLIP-seq
MIRT2689113	hsa-miR-1268b	CLIP-seq
MIRT2604744	hsa-miR-1293	CLIP-seq
MIRT2689114	hsa-miR-1321	CLIP-seq
MIRT2604745	hsa-miR-138	CLIP-seq
MIRT2604746	hsa-miR-1587	CLIP-seq
MIRT2604747	hsa-miR-185	CLIP-seq
MIRT1276354	hsa-miR-2117	CLIP-seq
MIRT2604748	hsa-miR-3126-5p	CLIP-seq
MIRT2689115	hsa-miR-3150b-3p	CLIP-seq
MIRT2604749	hsa-miR-3151	CLIP-seq
MIRT2604750	hsa-miR-3202	CLIP-seq
MIRT2604751	hsa-miR-34a	CLIP-seq
MIRT2604752	hsa-miR-34c-5p	CLIP-seq
MIRT2689116	hsa-miR-3616-3p	CLIP-seq
MIRT2604753	hsa-miR-3652	CLIP-seq
MIRT2604754	hsa-miR-3689a-3p	CLIP-seq
MIRT2604755	hsa-miR-3689c	CLIP-seq
MIRT2604756	hsa-miR-377	CLIP-seq
MIRT2604757	hsa-miR-378g	CLIP-seq
MIRT1276360	hsa-miR-4270	CLIP-seq
MIRT1276355	hsa-miR-4273	CLIP-seq
MIRT2604759	hsa-miR-4306	CLIP-seq
MIRT2689117	hsa-miR-4316	CLIP-seq
MIRT1276356	hsa-miR-4428	CLIP-seq
MIRT2604760	hsa-miR-4430	CLIP-seq
MIRT2689118	hsa-miR-4436b-3p	CLIP-seq
MIRT1276361	hsa-miR-4441	CLIP-seq
MIRT2604761	hsa-miR-4446-3p	CLIP-seq
MIRT2604762	hsa-miR-4456	CLIP-seq
MIRT2604763	hsa-miR-4468	CLIP-seq
MIRT2604764	hsa-miR-4476	CLIP-seq
MIRT2689119	hsa-miR-4481	CLIP-seq
MIRT2604765	hsa-miR-4483	CLIP-seq
MIRT2689120	hsa-miR-4486	CLIP-seq
MIRT2604766	hsa-miR-4492	CLIP-seq
MIRT2604767	hsa-miR-4498	CLIP-seq
MIRT2604768	hsa-miR-449a	CLIP-seq
MIRT2604769	hsa-miR-449b	CLIP-seq
MIRT1552715	hsa-miR-4505	CLIP-seq
MIRT2604770	hsa-miR-4522	CLIP-seq
MIRT2604771	hsa-miR-4644	CLIP-seq
MIRT2604772	hsa-miR-4656	CLIP-seq
MIRT2604773	hsa-miR-4663	CLIP-seq
MIRT2604774	hsa-miR-4675	CLIP-seq
MIRT2689121	hsa-miR-4689	CLIP-seq
MIRT2689122	hsa-miR-4695-5p	CLIP-seq
MIRT2604775	hsa-miR-4707-3p	CLIP-seq
MIRT2604776	hsa-miR-4728-5p	CLIP-seq
MIRT2689123	hsa-miR-4739	CLIP-seq
MIRT2604777	hsa-miR-4741	CLIP-seq
MIRT2604778	hsa-miR-4742-5p	CLIP-seq
MIRT2689124	hsa-miR-4745-5p	CLIP-seq
MIRT1276357	hsa-miR-4753-3p	CLIP-seq
MIRT2689125	hsa-miR-4756-5p	CLIP-seq
MIRT2604779	hsa-miR-4777-5p	CLIP-seq
MIRT2689126	hsa-miR-4784	CLIP-seq
MIRT2604780	hsa-miR-485-5p	CLIP-seq
MIRT2604781	hsa-miR-486-3p	CLIP-seq
MIRT2604782	hsa-miR-503	CLIP-seq
MIRT2604783	hsa-miR-518d-5p	CLIP-seq
MIRT2604784	hsa-miR-519b-5p	CLIP-seq
MIRT2604785	hsa-miR-519c-5p	CLIP-seq
MIRT2604786	hsa-miR-520c-5p	CLIP-seq
MIRT2604787	hsa-miR-526a	CLIP-seq
MIRT1552716	hsa-miR-541	CLIP-seq
MIRT2604788	hsa-miR-548n	CLIP-seq
MIRT2604789	hsa-miR-583	CLIP-seq
MIRT2689127	hsa-miR-585	CLIP-seq
MIRT1552717	hsa-miR-654-5p	CLIP-seq
MIRT2604790	hsa-miR-762	CLIP-seq
MIRT2689128	hsa-miR-765	CLIP-seq

Show/Hide all (36)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000302	Process	Response to reactive oxygen species	IDA	18048354
GO:0001553	Process	Luteinization	ISS
GO:0004725	Function	Protein tyrosine phosphatase activity	ISS
GO:0005515	Function	Protein binding	IPI	11086001, 16273344, 25416956, 25910212, 26871637, 28514442, 32296183, 33961781
GO:0005634	Component	Nucleus	IDA	15596545
GO:0005634	Component	Nucleus	IEA
GO:0005768	Component	Endosome	IEA
GO:0005768	Component	Endosome	ISS
GO:0005794	Component	Golgi apparatus	ISS
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0008021	Component	Synaptic vesicle	ISS
GO:0008134	Function	Transcription factor binding	IDA	16622421
GO:0016020	Component	Membrane	IEA
GO:0030073	Process	Insulin secretion	IGI	24843546
GO:0030141	Component	Secretory granule	IBA
GO:0030141	Component	Secretory granule	IEA
GO:0030141	Component	Secretory granule	ISS
GO:0030424	Component	Axon	IEA
GO:0030507	Function	Spectrin binding	IPI	11086001
GO:0030658	Component	Transport vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0035773	Process	Insulin secretion involved in cellular response to glucose stimulus	IBA
GO:0035773	Process	Insulin secretion involved in cellular response to glucose stimulus	ISS
GO:0042995	Component	Cell projection	IEA
GO:0043025	Component	Neuronal cell body	ISS
GO:0043204	Component	Perikaryon	IEA
GO:0043679	Component	Axon terminus	ISS
GO:0044389	Function	Ubiquitin-like protein ligase binding	IDA	15596545
GO:0045202	Component	Synapse	IBA
GO:0045202	Component	Synapse	IEA
GO:0045202	Component	Synapse	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	15596545
GO:0051046	Process	Regulation of secretion	IBA
GO:1904692	Process	Positive regulation of type B pancreatic cell proliferation	IDA	18178618
GO:1990502	Process	Dense core granule maturation	IGI	24843546

MIM	HGNC	e!Ensembl
601773	9676	ENSG00000054356

Q16849

Protein name

Receptor-type tyrosine-protein phosphatase-like N (R-PTP-N) (Islet cell antigen 512) (ICA 512) (Islet cell autoantigen 3) (PTP IA-2) [Cleaved into: ICA512-N-terminal fragment (ICA512-NTF); ICA512-transmembrane fragment (ICA512-TMF); ICA512-cleaved cytosol

Protein function

Plays a role in vesicle-mediated secretory processes (PubMed:24843546). Required for normal accumulation of secretory vesicles in hippocampus, pituitary and pancreatic islets (By similarity). Required for the accumulation of normal levels of ins

PDB

2I1Y , 2QT7 , 3N01 , 3N4W , 3NG8 , 3NP5

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF14948	RESP18	60 → 160	RESP18 domain	Family
PF11548	Receptor_IA-2	469 → 557	Protein-tyrosine phosphatase receptor IA-2	Family
PF00102	Y_phosphatase	734 → 968	Protein-tyrosine phosphatase	Domain

Tissue specificity

TISSUE SPECIFICITY: Expression is restricted to neuroendocrine cells. Found in pancreas, brain and pituitary. {ECO:0000269|PubMed:8024693}.

Sequence

MRRPRRPGGLGGSGGLRLLLCLLLLSSRPGGCSAVSAHGCLFDRRLCSHLEVCIQDGLFG
QCQVGVGQARPLLQVTSPVLQRLQGVLRQLMSQGLSWHDDLTQYVISQEMERIPRLRPPE
PRPRDRSGLAPKRPGPAGELLLQDIPTGSAPAAQHRLPQPPVGKGGAGASSSLSPLQAEL
LPPLLEHLLLPPQPPHPSLSYEPALLQPYLFHQFGSRDGSRVSEGSPGMVSVGPLPKAEA
PALFSRTASKGIFGDHPGHSYGDLPGPSPAQLFQDSGLLYLAQELPAPSRARVPRLPEQG
SSSRAEDSPEGYEKEGLGDRGEKPASPAVQPDAALQRLAAVLAGYGVELRQLTPEQLSTL
LTLLQLLPKGAGRNPGGVVNVGADIKKTMEGPVEGRDTAELPARTSPMPGHPTASPTSSE
VQQVPSPVSSEPPKAARPPVTPVLLEKKSPLGQSQPTVAGQPSARPAAEEYGYIVTDQKP
LSLAAGVKLLEILAEHVHMSSGSFINISVVGPALTFRIRHNEQNLSLADVTQQAGLVKSE
LEAQTGLQILQTGVGQREEAAAVLPQTAHSTSPMRSVLLTLVALAGVAGLLVALAVALCV
RQHARQQDKERLAALGPEGAHGDTTFEYQDLCRQHMATKSLFNRAEGPPEPSRVSSVSSQ
FSDAAQASPSSHSSTPSWCEEPAQANMDISTGHMILAYMEDHLRNRDRLAKEWQALCAYQ
AEPNTCATAQGEGNIKKNRHPDFLPYDHARIKLKVESSPSRSDYINASPIIEHDPRMPAY
IATQGPLSHTIADFWQMVWESGCTVIVMLTPLVEDGVKQCDRYWPDEGASLYHVYEVNLV
SEHIWCEDFLVRSFYLKNVQTQETRTLTQFHFLSWPAEGTPASTRPLLDFRRKVNKCYRG
RSCPIIVHCSDGAGRTGTYILIDMVLNRMAKGVKEIDIAATLEHVRDQRPGLVRSKDQFE
FALTAVAEEVNAILKALPQ

Sequence length

979

Interactions

View interactions

	KEGG
	Type I diabetes mellitus

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
DIABETES MELLITUS, INSULIN-DEPENDENT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HOARDING DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POSTPARTUM DEPRESSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (22)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Adenoma Islet Cell	Stimulate	22960018, 32686271, 37043275	★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma Islet Cell	Associate	24367383	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Associate	10209508, 18048354, 27881117, 35813648	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	35296631	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoid Tumor	Associate	17717663	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Associate	29742497	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cytomegalovirus Infections	Associate	9606176	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Associate	15947838, 18048354, 20357361, 23160529, 23841104, 24332797, 25225671	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Associate	10209508, 11238556, 11981830, 15756536, 15947838, 16542366, 19429597, 21490167, 21831970, 21935384, 22357962, 22385239, 22966073, 23160529, 23396399 View all (17 more)	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Stimulate	26216138	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Associate	25567348	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Ketoacidosis	Associate	36062396	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Associate	30382873, 32875483, 39505178	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Associate	27881117	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Associate	35813648	★★★★★ ★☆☆☆☆ Found in Text Mining only
Latent Autoimmune Diabetes in Adults	Associate	35813648	★★★★★ ★☆☆☆☆ Found in Text Mining only
Measles	Associate	9606176	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Associate	24517144	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neonatal herpes	Associate	9606176	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	35361846	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Associate	36189254	★★★★★ ★☆☆☆☆ Found in Text Mining only
Wolfram Syndrome	Associate	16442662	★★★★★ ★☆☆☆☆ Found in Text Mining only

PTPRN (protein tyrosine phosphatase receptor type N)