Property Summary

NCBI Gene PubMed Count 47
PubMed Score 723.80
PubTator Score 600.25

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (4)

Disease Target Count P-value
lung carcinoma 2844 2.60598654708026E-62
astrocytoma 1493 5.29785645713177E-23
glioblastoma multiforme 347 1.91565625283324E-20
ependymoma 2514 3.53552143019492E-15
oligodendroglioma 2849 4.84405809553347E-15
atypical teratoid/rhabdoid tumor 1095 1.21471644571812E-7
pilocytic astrocytoma 3086 8.49049909249523E-7
malignant mesothelioma 3163 1.82474327344827E-5
pediatric high grade glioma 2712 0.0064858507613784
Pick disease 1893 0.0157540075342679
sonic hedgehog group medulloblastoma 1482 0.0211856322058513
Disease Target Count Z-score Confidence
Carcinoma 2147 4.35 2.2
Disease Target Count Z-score Confidence
diabetes mellitus 1663 6.039 3.0

Expression

  Differential Expression (11)

Disease log2 FC p
malignant mesothelioma 1.800 0.000
ependymoma -2.500 0.000
astrocytoma -2.000 0.000
glioblastoma multiforme -2.000 0.000
oligodendroglioma -1.700 0.000
atypical teratoid/rhabdoid tumor -2.300 0.000
pediatric high grade glioma -1.400 0.006
pilocytic astrocytoma -2.200 0.000
sonic hedgehog group medulloblastoma -1.300 0.021
lung carcinoma 3.500 0.000
Pick disease -1.200 0.016

Synonym

Accession Q16849 B4DK12 F5GZS3 Q08319 Q53QD6 Q6NSL1 R-PTP-N
Symbols IA2
IA-2
ICA512
R-PTP-N
IA-2/PTP

Gene

PDB

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

  Ortholog (7)

Species Source
Chimp OMA EggNOG
Mouse OMA Inparanoid
Rat OMA Inparanoid
Dog OMA Inparanoid
Horse OMA Inparanoid
Cow OMA Inparanoid
Pig OMA Inparanoid

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
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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.
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