Property Summary

NCBI Gene PubMed Count 47
PubMed Score 723.80
PubTator Score 600.25

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (11)

Disease log2 FC p
malignant mesothelioma 1.800 1.8e-05
ependymoma -2.500 3.5e-15
astrocytoma -2.000 5.3e-23
glioblastoma multiforme -2.000 1.9e-20
oligodendroglioma -1.700 4.8e-15
atypical teratoid/rhabdoid tumor -2.300 1.2e-07
pediatric high grade glioma -1.400 6.5e-03
pilocytic astrocytoma -2.200 8.5e-07
sonic hedgehog group medulloblastoma -1.300 2.1e-02
lung carcinoma 3.500 2.6e-62
Pick disease -1.200 1.6e-02

Gene RIF (30)

PMID Text
26836020 RESP18HD is required for efficient sorting of ICA512 to secretory granules: RESP18HD is a key determinant for ICA512 granule targeting.
26564179 Identification of amino acids contributing to distinct epitopes on IA-2, with both HLA-DR and HLA-DQ alleles influencing epitope specificity.
25645784 Kaplan-Meier survival curves estimated a worst pancreas graft survival for patients with positive IA-2 antibodies versus those patients with negative auto-antibodies and GAD65+ auto-antibodies after simultaneous pancreas kidney transplantation.
25528004 The binding of CREB to the promoter region, -216 to +115, enhanced IA-2 transcription by more than fivefold.
23396399 Humoral responses to islet antigen-2 and zinc transporter 8 are attenuated in patients carrying HLA-A*24 alleles at the onset of type 1 diabetes.
23110943 the IA-2A autoantibody response in children is intense with rapid maturation against immunogenic epitopes and a strong association with diabetes development
22966073 identification of cysteines that are critical for IA-2A binding of autoantibodies in patients with newly diagnosed type 1 diabetes
21935384 analysis of protein-protein interactions in crystals of the human receptor-type protein tyrosine phosphatase ICA512 ectodomain
21792090 ZnT8A, GADA and IA-2A are autoantibodies that may have a role in successful pancreas graft survival
21744463 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
21577013 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).
21442164 Letter: report lack of anti-IA2 autoantibodies in primary antiphospholipid syndrome.
21270193 Risk of autoantibody seroconversion among children followed in DPT-1 is age dependent
21073664 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.
20193755 Data show that significantly increased expression of MCP-1, IL-2 and PTPR-N was observed in Tourette's syndrome cases.
20083660 T cells stimulated in vitro by the IA-2 epitope express IFN-gamma when restimulated by the similar rotavirus VP7 peptide.
20035758 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.
19447008 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.
18535195 Inexpensive, nonradioactive method for the detection of autoantibodies cell-prepared PTPRN (also known as IA-2) in diabetics.
18504544 HLA class II alleles strongly influence the prevalence of IA-2A in type 1 diabetes.
18373080 Autoantibodies in type 1 diabetes for this protein provide a model for other autoimmune diseases.
16273344 identification of proteins that interact with IA-2, the IA-2 interactome; the IA-2 interactome based on pull-down experiments, currently consists of 12 proteins; identification of these interacting proteins provides clues as to how IA-2 functions
15939893 IA-2 is an important regulator of dense core vesicle number and glucose-induced and basal insulin secretion in beta cells.
15620435 Measuring IA-2A is useful for the diagnosis and prognosis of type 1 diabetes in Japanese.
15596545 The islet cell autoantigen 512 (ICA512)/IA-2 is a receptor tyrosine phosphatase-like protein associated with the insulin secretory granules (SGs) of pancreatic beta-cells.
14624760 findings indicate that glutamine at position 862, and residues 876-880 of the WPD loop of IA-2 are important for several of the IA-2 specific PTP domain epitopes
12021127 BCG vaccination and GAD65 and IA-2 autoantibodies in autoimmune diabetes in southern India.
12021115 Autoantibodies to IA-2 in type 1 diabetes: measurements with a new enzyme-linked immunosorbent assay.
11908951 ICA512(IA-2) epitope specific assays distinguish transient from diabetes associated autoantibodies.
11334676 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MRRPRRPGGLGGSGGLRLLLCLLLLSSRPGGCSAVSAHGCLFDRRLCSHLEVCIQDGLFGQCQVGVGQAR      1 - 70
PLLQVTSPVLQRLQGVLRQLMSQGLSWHDDLTQYVISQEMERIPRLRPPEPRPRDRSGLAPKRPGPAGEL     71 - 140
LLQDIPTGSAPAAQHRLPQPPVGKGGAGASSSLSPLQAELLPPLLEHLLLPPQPPHPSLSYEPALLQPYL    141 - 210
FHQFGSRDGSRVSEGSPGMVSVGPLPKAEAPALFSRTASKGIFGDHPGHSYGDLPGPSPAQLFQDSGLLY    211 - 280
LAQELPAPSRARVPRLPEQGSSSRAEDSPEGYEKEGLGDRGEKPASPAVQPDAALQRLAAVLAGYGVELR    281 - 350
QLTPEQLSTLLTLLQLLPKGAGRNPGGVVNVGADIKKTMEGPVEGRDTAELPARTSPMPGHPTASPTSSE    351 - 420
VQQVPSPVSSEPPKAARPPVTPVLLEKKSPLGQSQPTVAGQPSARPAAEEYGYIVTDQKPLSLAAGVKLL    421 - 490
EILAEHVHMSSGSFINISVVGPALTFRIRHNEQNLSLADVTQQAGLVKSELEAQTGLQILQTGVGQREEA    491 - 560
AAVLPQTAHSTSPMRSVLLTLVALAGVAGLLVALAVALCVRQHARQQDKERLAALGPEGAHGDTTFEYQD    561 - 630
LCRQHMATKSLFNRAEGPPEPSRVSSVSSQFSDAAQASPSSHSSTPSWCEEPAQANMDISTGHMILAYME    631 - 700
DHLRNRDRLAKEWQALCAYQAEPNTCATAQGEGNIKKNRHPDFLPYDHARIKLKVESSPSRSDYINASPI    701 - 770
IEHDPRMPAYIATQGPLSHTIADFWQMVWESGCTVIVMLTPLVEDGVKQCDRYWPDEGASLYHVYEVNLV    771 - 840
SEHIWCEDFLVRSFYLKNVQTQETRTLTQFHFLSWPAEGTPASTRPLLDFRRKVNKCYRGRSCPIIVHCS    841 - 910
DGAGRTGTYILIDMVLNRMAKGVKEIDIAATLEHVRDQRPGLVRSKDQFEFALTAVAEEVNAILKALPQ     911 - 979
//

Text Mined References (56)

PMID Year Title
26836020 2016 Biochemical, biophysical, and functional properties of ICA512/IA-2 RESP18 homology domain.
26564179 2016 Influence of HLA-DR and -DQ alleles on autoantibody recognition of distinct epitopes within the juxtamembrane domain of the IA-2 autoantigen in type 1 diabetes.
25645784 Tyrosine-phosphatase and glutamate-decarboxylase antibodies after simultaneous pancreas kidney transplantation: do they have an impact on pancreas graft survival?
25561468 2015 Stability of proICA512/IA-2 and its targeting to insulin secretory granules require ?4-sheet-mediated dimerization of its ectodomain in the endoplasmic reticulum.
25528004 2015 The minimal promoter region of the dense-core vesicle protein IA-2: transcriptional regulation by CREB.
25416956 2014 A proteome-scale map of the human interactome network.
24843546 2012 Sorting nexin 19 regulates the number of dense core vesicles in pancreatic ?-cells.
23396399 2013 Humoral responses to islet antigen-2 and zinc transporter 8 are attenuated in patients carrying HLA-A*24 alleles at the onset of type 1 diabetes.
23234360 2013 LC-MS/MS characterization of O-glycosylation sites and glycan structures of human cerebrospinal fluid glycoproteins.
23110943 2012 IA-2 autoantibody affinity in children at risk for type 1 diabetes.
22966073 2013 The core cysteines, (C909) of islet antigen-2 and (C945) of islet antigen-2?, are crucial to autoantibody binding in type 1 diabetes.
22171320 2012 Human urinary glycoproteomics; attachment site specific analysis of N- and O-linked glycosylations by CID and ECD.
21935384 2011 Protein-protein interactions in crystals of the human receptor-type protein tyrosine phosphatase ICA512 ectodomain.
21792090 2011 Zinc transporter 8 autoantibodies increase the predictive value of islet autoantibodies for function loss of technically successful solitary pancreas transplant.
21744463 2011 Predictors of associated autoimmune diseases in families with type 1 diabetes: results from the Type 1 Diabetes Genetics Consortium.
21577013 2011 Progression-free survival in ovarian cancer is reflected in epigenetic DNA methylation profiles.
21442164 2012 Lack of anti-insulin, anti-GAD, and anti-IA2 autoantibodies in primary antiphospholipid syndrome.
21270193 2011 Islet autoantibody seroconversion in the DPT-1 study: justification for repeat screening throughout childhood.
21073664 2011 Prediction and prevention of Type 1 diabetes mellitus.
20886068 2010 ?2-Syntrophin is a Cdk5 substrate that restrains the motility of insulin secretory granules.
20193755 2010 Elevated expression of MCP-1, IL-2 and PTPR-N in basal ganglia of Tourette syndrome cases.
20083660 2010 Evidence for molecular mimicry between human T cell epitopes in rotavirus and pancreatic islet autoantigens.
20035758 2010 Triple chimeric islet autoantigen IA2-ZnT8WR to facilitate islet autoantibody determination.
19447008 2009 Autoantibodies and associated T-cell responses to determinants within the 831-860 region of the autoantigen IA-2 in Type 1 diabetes.
18824546 2008 Regulation of insulin granule turnover in pancreatic beta-cells by cleaved ICA512.
18535195 2008 A new luminescence assay for autoantibodies to mammalian cell-prepared insulinoma-associated protein 2.
18504544 2008 Autoantibodies to islet antigen-2 are associated with HLA-DRB1*07 and DRB1*09 haplotypes as well as DRB1*04 at onset of type 1 diabetes: the possible role of HLA-DQA in autoimmunity to IA-2.
18373080 2008 Diabetes Antibody Standardization Program: evaluation of assays for autoantibodies to glutamic acid decarboxylase and islet antigen-2.
18178618 2008 ICA512 signaling enhances pancreatic beta-cell proliferation by regulating cyclins D through STATs.
18058037 2007 Structural genomics of protein phosphatases.
18048354 2008 Structure of the mature ectodomain of the human receptor-type protein-tyrosine phosphatase IA-2.
16713569 2006 A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration.
16622421 2006 Synergy of glucose and growth hormone signalling in islet cells through ICA512 and STAT5.
16273344 2005 The IA-2 interactome.
15939893 2005 The dense core transmembrane vesicle protein IA-2 is a regulator of vesicle number and insulin secretion.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15620435 2005 Significance of IA-2 antibody in Japanese type 1 diabetes: its association with GAD antibody.
15596545 2004 Nuclear translocation of an ICA512 cytosolic fragment couples granule exocytosis and insulin expression in {beta}-cells.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14624760 2003 Fine mapping of diabetes-associated IA-2 specific autoantibodies.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11908951 2002 ICA512(IA-2) epitope specific assays distinguish transient from diabetes associated autoantibodies.
11483505 2001 Dephosphorylation of beta2-syntrophin and Ca2+/mu-calpain-mediated cleavage of ICA512 upon stimulation of insulin secretion.
11334676 2001 Polymorphism in gene for islet autoantigen, IA-2, and type 1 diabetes in Japanese subjects.
11289059 2001 Differential splicing of the IA-2 mRNA in pancreas and lymphoid organs as a permissive genetic mechanism for autoimmunity against the IA-2 type 1 diabetes autoantigen.
11086001 2000 betaIV spectrin, a new spectrin localized at axon initial segments and nodes of ranvier in the central and peripheral nervous system.
11079748 2000 Humoral autoreactivity to an alternatively spliced variant of ICA512/IA-2 in Type I diabetes.
11043403 2000 The receptor tyrosine phosphatase-like protein ICA512 binds the PDZ domains of beta2-syntrophin and nNOS in pancreatic beta-cells.
10457160 1999 Post-translational modifications of ICA512, a receptor tyrosine phosphatase-like protein of secretory granules.
9828138 1998 Genomic structure and promoter sequence of the insulin-dependent diabetes mellitus autoantigen, IA-2 (PTPRN).
8798755 1996 Cloning and characterization of islet cell antigen-related protein-tyrosine phosphatase (PTP), a novel receptor-like PTP and autoantigen in insulin-dependent diabetes.
8646884 1996 Assignment of the human gene for receptor-type protein tyrosine phosphatase IA-2 (PTPRN) to chromosome region 2q35 --> q36.1 and identification of an intragenic genetic marker.
8641276 1996 ICA 512, an autoantigen of type I diabetes, is an intrinsic membrane protein of neurosecretory granules.
8144912 1994 Islet cell antigen 512 is a diabetes-specific islet autoantigen related to protein tyrosine phosphatases.
8024693 1994 Molecular cloning and identification of a receptor-type protein tyrosine phosphatase, IA-2, from human insulinoma.