PTPRN (protein tyrosine phosphatase receptor type N)

Gene

• Entrez ID: 5798
• Gene name: Protein tyrosine phosphatase receptor type N
• Gene symbol: PTPRN
• Synonyms (NCBI Gene): IA-2, IA-2/PTP, IA2, ICA512, R-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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 601773
• HGNC: 9676
• e!Ensembl: ENSG00000054356

Protein

• UniProt ID: 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

Pathways

KEGG:

Type I diabetes mellitus

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
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

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	26136049		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	10209508, 18048354, 27881117, 35813648	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	LHGDN	18373080		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	9725268		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	35296631	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoid Tumor	Carcinoid tumor	Pubtator	17717663	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	29742497	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	11323090, 11908951, 15756536, 16464953, 28174261, 8826969, 9100223		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	11323090, 11908951, 15756536, 16464953, 28174261, 8826969, 9100223		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	15947838, 18048354, 20357361, 23160529, 23841104, 24332797, 25225671	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	10209508, 11238556, 11981830, 15756536, 15947838, 16542366, 19429597, 21490167, 21831970, 21935384, 22357962, 22385239, 22966073, 23160529, 23396399, 23480181, 24517144, 25225671, 25528004, 26405067, 26513234, 27881117, 28941965, 29459556, 30710658, 30969375, 31167877, 31754749, 34556755, 34988229, 35813648, 8798755	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	26216138	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	25567348	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	10724097, 10792336, 11289059, 11334676, 11474874, 11679444, 11703365, 11908951, 11978629, 16455897, 20858521, 21490167, 24517144, 28707353, 30979722, 7657822, 8144912, 8816974, 8816981, 8826969, 8858379, 9353155, 9435304, 9725268, 9878086		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	LHGDN	12021127		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	31206606, 9250448		★☆☆☆☆ Found in Text Mining only
Diabetes, Autoimmune	Autoimmune Diabetes	BEFREE	28174261		★☆☆☆☆ Found in Text Mining only
Diabetic Ketoacidosis	Diabetic Ketoacidosis	BEFREE	10480519		★☆☆☆☆ Found in Text Mining only
Diabetic Ketoacidosis	Diabetic ketoacidosis	Pubtator	36062396	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	30187220, 30904907		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	30382873, 32875483, 39505178	Associate	★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	27881117	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	15756536		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	35813648	Associate	★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	BEFREE	30979722, 7657822		★☆☆☆☆ Found in Text Mining only
Latent Autoimmune Diabetes in Adults	Latent autoimmune diabetes in adults	Pubtator	35813648	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29742497		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	30904907		★☆☆☆☆ Found in Text Mining only
Maturity onset diabetes mellitus in young	Mason type diabetes	BEFREE	9250448		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	24517144		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	24517144	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	36189254	Associate	★☆☆☆☆ Found in Text Mining only
Wolfram Syndrome	Wolfram syndrome	Pubtator	16442662	Associate	★☆☆☆☆ Found in Text Mining only