AutismKB 2.0

Annotation Detail for PCSK2


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Basic Information Top
Gene Symbol:PCSK2 ( NEC2,PC2,SPC2 )
Gene Full Name: proprotein convertase subtilisin/kexin type 2
Band: 20p12.1
Quick LinksEntrez ID:5126; OMIM: 162151; Uniprot ID:NEC2_HUMAN; ENSEMBL ID: ENSG00000125851; HGNC ID: 8744
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
No data
Pathway IDPathway Name
Diabetes pathways
No data
Pathway IDPathway Name
P00003Alzheimer disease-amyloid secretase pathway
P00004Alzheimer disease-presenilin pathway
Pathway IDPathway Name
500128Insulin Synthesis and Processing
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1848Embryoma
1904Diabetes mellitus
2181Liver metastases
2239Lymphoma
Desease Name
Biochemical measures
CHEMDEPENDENCY
smoking cessation
METABOLIC
diabetes, type 2
Desease Name
Biochemical measures
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C027576 4-hydroxy-2-nonenal 4-hydroxy-2-nonenal results in decreased expression of PCSK2 mRNAdecreases expression 12419474
C016583 4-(N-methyl-N-nitrosamino)-1-(3-pyridyl)-1-butanone [Benzo(a)pyrene co-treated with 4-(N-methyl-N-nitrosamino)-1-(3-pyridyl)-1-butanone] results in decreased expression of PCSK2 mRNAaffects cotreatment|decreases expression 20146248
D000082 Acetaminophen Acetaminophen affects the expression of PCSK2 mRNAaffects expression 17562736
C103303 alitretinoin alitretinoin results in increased expression of PCSK2 mRNAincreases expression 15585599
D000643 Ammonium Chloride Ammonium Chloride affects the expression of PCSK2 mRNAaffects expression 16483693
D001564 Benzo(a)pyrene [Benzo(a)pyrene co-treated with 4-(N-methyl-N-nitrosamino)-1-(3-pyridyl)-1-butanone] results in decreased expression of PCSK2 mRNAaffects cotreatment|decreases expression 20146248
C055494 caffeic acid phenethyl ester caffeic acid phenethyl ester inhibits the reaction [Diethylnitrosamine results in increased expression of PCSK2 mRNA]decreases reaction|increases expression 20360939
D003520 Cyclophosphamide Cyclophosphamide results in decreased expression of PCSK2 mRNAdecreases expression 15331540
D004052 Diethylnitrosamine caffeic acid phenethyl ester inhibits the reaction [Diethylnitrosamine results in increased expression of PCSK2 mRNA]decreases reaction|increases expression 20360939
D004052 Diethylnitrosamine Diethylnitrosamine results in increased expression of PCSK2 mRNAincreases expression 20360939
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of PCSK2 mRNAaffects expression 17555576
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of PCSK2 mRNAincreases expression 17942748
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of PCSK2 mRNAincreases expression 15834898
D007657 Ketone Bodies Ketone Bodies results in increased expression of PCSK2 mRNAincreases expression 16807920
D008713 Methimazole Methimazole results in decreased expression of PCSK2 mRNAdecreases expression 17403546
D009151 Mustard Gas Mustard Gas results in increased expression of PCSK2 mRNAincreases expression 15674844
15674843
C494474 perchlorate perchlorate results in decreased expression of PCSK2 mRNAdecreases expression 17403546
D011441 Propylthiouracil Propylthiouracil results in increased expression of PCSK2 mRNAincreases expression 15585599
D011441 Propylthiouracil Propylthiouracil results in decreased expression of PCSK2 mRNAdecreases expression 17403546
D014284 Triiodothyronine Triiodothyronine results in decreased expression of PCSK2 mRNAdecreases expression 15585599
D013974 Thyroxine Thyroxine results in decreased expression of PCSK2 mRNAdecreases expression 15585599
D013629 Tamoxifen Tamoxifen affects the expression of PCSK2 mRNAaffects expression 17555576
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 4.5214745880
MESH:D000138 Acidosis Ammonium Chloride 3.5218287403
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 3.9117505938
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.1420127859 20464547
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.1414692618
MESH:D000236 Adenoma 4-(N-methyl-N-nitrosamino)-1-(3-pyridyl)-1-butanone 11.1316176798
MESH:D000236 Adenoma Benzo(a)pyrene 11.136695378
MESH:D000236 Adenoma Diethylnitrosamine 11.136695378 10737359
MESH:D018248 Adenoma, Liver Cell Diethylnitrosamine 3.8619061943 18056438 19052882 17162532 17620307 16434500
MESH:D000690 Amyotrophic Lateral Sclerosis 4-hydroxy-2-nonenal 4.0710965797
MESH:D000799 Angioedema Acetaminophen 3.8110982225
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.0319183758
MESH:D001161 Arteriosclerosis Cyclophosphamide 10.0415014928
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 10.0411256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.6415885639
MESH:D001249 Asthma Mustard Gas 2.7010378619
MESH:D001321 Autistic Disorder Acetaminophen 1.4218445737
MESH:D001768 Blister Mustard Gas 5.1219167455
MESH:D001778 Blood Coagulation Disorders Propylthiouracil 4.2219483382
MESH:D001943 Breast Neoplasms 4-(N-methyl-N-nitrosamino)-1-(3-pyridyl)-1-butanone 2.9520146248
MESH:D001943 Breast Neoplasms alitretinoin 2.9516344269
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 2.9517474063 20146248
MESH:D001943 Breast Neoplasms Cyclophosphamide 2.9511325840 16978400 15136595 17388661 15093573 18323546 12006526 17020986 18234424
MESH:D001943 Breast Neoplasms Diethylnitrosamine 2.9517474063
MESH:D001943 Breast Neoplasms Tamoxifen 2.9519103187 19200415 19410462 19142967 19288272 20135344 19289846 19189210 20065188 18855134 18997820 19115204 18629630 18815881 18425577 20544844 20859285 17440819 20390343 17893378 19155303 11161223 20005174 19011961 21138602 19084267 18984771 16873071 19244106 21152245 19487384 16202921 19066611 19189212 17261762 15668708 17049068 19221464 16273361 15565566 18821012 18351453 19059307 16818667 17242785
MESH:D001989 Bronchiolitis Obliterans Mustard Gas 5.1215286001
MESH:D029481 Bronchitis, Chronic Mustard Gas 4.9517687719 10378619
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.4719066611
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 6.543084413
MESH:D006528 Carcinoma, Hepatocellular Cyclophosphamide 6.5419701751
MESH:D006528 Carcinoma, Hepatocellular Diethylnitrosamine 6.5420727157 18971187 18393292 20101231 18788625 16681979 11831363 16698587 16779866 20432363 20524982 19919837 17978847 17162532 16288022 16807293 19822196 18978308 19052882 20512989 18210153 16830150 18506893 19383236 19539802 19208518 20214788 18691550 17138121 18056438 19701751 18665156 16878318 19107877 20514400 19394651 3084413 16540662 17761372 17055752 16328049 19519916 16502159 10737359 17173139 19335982 21159647 10672840 16935385 18494052 19171122 18785209 19418558 20007298 20935162 3581430 17428255 20084675 16569478
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 6.5416924424
MESH:D018827 Carcinoma, Lewis Lung Cyclophosphamide 4.8516152834
MESH:D002292 Carcinoma, Renal Cell Cyclophosphamide 3.5216201981
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.0420419170
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 3.5717572228
MESH:D006332 Cardiomegaly Thyroxine 4.0818093424
MESH:D002386 Cataract Acetaminophen 2.5510977129
MESH:D002471 Cell Transformation, Neoplastic Diethylnitrosamine 2.8321159647 7505956 2727394 17174075
MESH:D018281 Cholangiocarcinoma Diethylnitrosamine 3.6519052882
MESH:D002779 Cholestasis Ethinyl Estradiol 2.8417681005 17110522 16919318 11677210 16105132 17333356 15861022
MESH:D003556 Cystitis Cyclophosphamide 4.9618093676 18483878 15643279 18295254 16614059 12161096 18433785 17010015 16413132 11948286 12913760 17979934 10498854 16989017 12388444 16651033 18372110 10700343 15276878 18710439
MESH:D003711 Demyelinating Diseases Tamoxifen 4.3219031437
MESH:D003921 Diabetes Mellitus, Experimental Cyclophosphamide 4.0315331540 11751995 10990075
MESH:D003922 Diabetes Mellitus, Type 1 Cyclophosphamide 3.2118772604
MESH:D003924 Diabetes Mellitus, Type 2 Diethylnitrosamine 2.1820387270
MESH:D003928 Diabetic Nephropathies Tamoxifen 3.4419279558
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 3.7116485898 11287661 14550746 18713872 11834606 16177239 11421492 19416960 10774834 11461765 15619225 19085960 2444490 18071297 12594235 16781746 12153990 15968718 19164858 16109766 14986274 12958197 11739529 10915739 12540782 12705907 11743745 16081117 11529661 14725611 12392966 17906064 16227642 10663392 17522070 19739265 16393943 17562736 19923254 19370779 19420014
MESH:D056486 Drug-Induced Liver Injury Diethylnitrosamine 3.7119107877
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.0719426721
MESH:D004487 Edema Mustard Gas 3.2711402378 11428631 11428647 9260866
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 8.8112538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 8.8119031437
MESH:D016889 Endometrial Neoplasms Tamoxifen 3.0216202921 19155303 17893378 20544844
MESH:D004802 Eosinophilia Cyclophosphamide 4.1811006010
MESH:D004890 Erythema Mustard Gas 5.129357497
MESH:D004931 Esophageal Achalasia Diethylnitrosamine 5.0916302075
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.0016530937
MESH:D005234 Fatty Liver Diethylnitrosamine 12.8620387270 21071580
MESH:D005234 Fatty Liver Ethinyl Estradiol 12.8615345470
MESH:D005234 Fatty Liver Tamoxifen 12.8614986274 19224547
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.2116709447
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.4914745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.1519069698
MESH:D005756 Gastritis Acetaminophen 3.6516983495
MESH:D018316 Gliosarcoma Cyclophosphamide 5.4811389073
MESH:D006042 Goiter perchlorate 5.2618801409
MESH:D006086 Graft vs Host Disease Cyclophosphamide 5.0015172196 16376943 11014644
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 2.6320471113
MESH:D006467 Hemophilia A Cyclophosphamide 5.2511918545
MESH:D006504 Hepatic Veno-Occlusive Disease Cyclophosphamide 5.5114986274
MESH:D006689 Hodgkin Disease Cyclophosphamide 3.7516135485 17606976
MESH:D006930 Hyperalgesia Acetaminophen 2.6616870215
MESH:D006980 Hyperthyroidism Methimazole 5.5714678291
MESH:D007021 Hypospadias Ethinyl Estradiol 3.7716945680 16569931
MESH:D007037 Hypothyroidism Methimazole 11.8218031379
MESH:D007037 Hypothyroidism Propylthiouracil 11.828137927 18031379
MESH:D007154 Immune System Diseases Cyclophosphamide 5.3016076520
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.4212013081
MESH:D007248 Infertility, Male Cyclophosphamide 6.787193160 16517039
MESH:D007248 Infertility, Male Ethinyl Estradiol 6.7817937319
MESH:D007249 Inflammation Diethylnitrosamine 8.2618785209
MESH:D007249 Inflammation Mustard Gas 8.2611428631 17524151 9260866 9357497 11402378 16001271 8975870 11428647 11428620
MESH:D007249 Inflammation Tamoxifen 8.2619457130
MESH:D007414 Intestinal Neoplasms caffeic acid phenethyl ester 4.5510783313
MESH:D017492 Keratosis, Seborrheic alitretinoin 5.6016144296
MESH:D007674 Kidney Diseases Acetaminophen 6.1512587719 15629191
MESH:D007674 Kidney Diseases caffeic acid phenethyl ester 6.1515369732
MESH:D007680 Kidney Neoplasms Tamoxifen 3.0118625569
MESH:D007938 Leukemia Cyclophosphamide 3.4710602166
MESH:D015451 Leukemia, Lymphocytic, Chronic, B-Cell Cyclophosphamide 3.4818172266 17008537 17658394 17296974 18587576 17802794
MESH:D015464 Leukemia, Myelogenous, Chronic, BCR-ABL Positive Cyclophosphamide 4.0510373061
MESH:D015473 Leukemia, Promyelocytic, Acute caffeic acid phenethyl ester 3.9616766008
MESH:D007970 Leukopenia Cyclophosphamide 4.9311830472 10052129
MESH:D008064 Lipidoses Tamoxifen 3.1215342952 17567588
MESH:D008103 Liver Cirrhosis Diethylnitrosamine 2.8019638242 18665156 18407596 20032147 18522880
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 1.7418564211
MESH:D008107 Liver Diseases Acetaminophen 3.8712587719 12969438 16610002 16611625 19014921 19784758 11587558 19460945
MESH:D008107 Liver Diseases Diethylnitrosamine 3.8717034775
MESH:D017114 Liver Failure, Acute Acetaminophen 3.2016871587 17185352
MESH:D008113 Liver Neoplasms 4-(N-methyl-N-nitrosamino)-1-(3-pyridyl)-1-butanone 10.6215890375
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 10.6220195826 21137059
MESH:D008113 Liver Neoplasms Diethylnitrosamine 10.6220452335 19090486 19499222 21071580 12771043 10737359 18977376 16942905 19294768 20583210 12112319 20405173 19638242 19833225 18754104 15175105 18644402 19551842 19073162 20101389 19690152 19427195 21278145 19996281 20137499 19256749 19812893 18978307 19426721 19254457 21167192 18648771 2422723 20492335 21047994 20434301 20118626 9163691 20501860 19255062 19642983 19850985 15885732 2862719
MESH:D008113 Liver Neoplasms Tamoxifen 10.6216684651
MESH:D008114 Liver Neoplasms, Experimental Diethylnitrosamine 2.6019004024 18079962 18308698 16267830 17174075 19009564 2563599 18544905 3124819 19126423 17854601 18775883 19519916 19539802 9362446 18282651 18093689 17942915 16842330 21159647 18164116 18253720
MESH:D008171 Lung Diseases Mustard Gas 3.4218161513 18702808
MESH:D008175 Lung Neoplasms 4-(N-methyl-N-nitrosamino)-1-(3-pyridyl)-1-butanone 8.5116061637 18508827 15172992 14755239 19931552 16401635 12438228 17139156 18813816 15893417 9255578
MESH:D008175 Lung Neoplasms alitretinoin 8.5116413115
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 8.5118520028 6695378 20869020 18569708 17053015 18816296 20064080 20135361 20464547
MESH:D008175 Lung Neoplasms Diethylnitrosamine 8.5121163286 6695378 20512841 20970405
MESH:D008175 Lung Neoplasms Mustard Gas 8.513148597 8781369
MESH:D008175 Lung Neoplasms Tamoxifen 8.5118625569
MESH:D008223 Lymphoma Cyclophosphamide 3.8012854902
MESH:D016393 Lymphoma, B-Cell Cyclophosphamide 4.5516675587
MESH:D008228 Lymphoma, Non-Hodgkin Cyclophosphamide 4.1311911406
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 3.7219428831
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 2.5914580682 16827153 11731420 19196723 19196722
MESH:D020149 Manganese Poisoning Tamoxifen 4.5219453300
MESH:D008545 Melanoma Tamoxifen 1.8719393235 12393984
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.1515990972
MESH:D008546 Melanoma, Experimental Acetaminophen 10.7019513568
MESH:D008546 Melanoma, Experimental Cyclophosphamide 10.7016388313
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.1516381670
MESH:D009362 Neoplasm Metastasis Diethylnitrosamine 5.673581430 9029167
MESH:D009362 Neoplasm Metastasis Tamoxifen 5.6719393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.5019410462
MESH:D009369 Neoplasms alitretinoin 8.3416946489
MESH:D009369 Neoplasms Benzo(a)pyrene 8.3411141357
MESH:D009369 Neoplasms Cyclophosphamide 8.3418854779
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 3.9719200415 19189210 19196722
MESH:D009447 Neuroblastoma Cyclophosphamide 3.6215176712 8761367 16115947
MESH:D019636 Neurodegenerative Diseases Acetaminophen 8.0618514411
MESH:D019636 Neurodegenerative Diseases Diethylnitrosamine 8.0620387270
MESH:D017599 Neuroectodermal Tumors Cyclophosphamide 4.8512837982 8761367
MESH:D009461 Neurologic Manifestations Diethylnitrosamine 5.0920387270
MESH:D009503 Neutropenia Cyclophosphamide 9.398291058
MESH:D009503 Neutropenia Mustard Gas 9.397688884 16761898
MESH:D009845 Oligospermia Cyclophosphamide 4.6816517039
MESH:D010146 Pain Acetaminophen 6.7316870215
MESH:D010146 Pain Cyclophosphamide 6.7318093676 12161096
MESH:D010190 Pancreatic Neoplasms 4-(N-methyl-N-nitrosamino)-1-(3-pyridyl)-1-butanone 8.7412384795
MESH:D010190 Pancreatic Neoplasms Cyclophosphamide 8.7411332152
MESH:D010190 Pancreatic Neoplasms Diethylnitrosamine 8.7416540662
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.6511578682
MESH:D010787 Photosensitivity Disorders 4-hydroxy-2-nonenal 5.4711550810
MESH:D011041 Poisoning Mustard Gas 3.7615727166
MESH:D017499 Porokeratosis alitretinoin 5.9816144296
MESH:D011230 Precancerous Conditions Diethylnitrosamine 3.512563599
MESH:D054198 Precursor Cell Lymphoblastic Leukemia-Lymphoma Cyclophosphamide 3.7821297632
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.6317292933
MESH:D011471 Prostatic Neoplasms Cyclophosphamide 2.6317136230
MESH:D011471 Prostatic Neoplasms Tamoxifen 2.6315067354
MESH:D011537 Pruritus Ethinyl Estradiol 9.4115861022 16919318
MESH:D011537 Pruritus Mustard Gas 9.4118058305
MESH:D011658 Pulmonary Fibrosis Cyclophosphamide 5.9516636934
MESH:D011658 Pulmonary Fibrosis Mustard Gas 5.9517720292 10334151 17266442 17620002 17894541
MESH:D012595 Scleroderma, Systemic Cyclophosphamide 4.7816636934
MESH:D012871 Skin Diseases Mustard Gas 2.7015451306 12880345 16961503
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 2.3510029692 19755658
MESH:D013088 Spermatocele Ethinyl Estradiol 11.4716709447
MESH:D013088 Spermatocele Tamoxifen 11.4716709447
OMIM:102530 SPERMATOGENIC FAILURE 6 Cyclophosphamide 5.4816517039
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.0019457130
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 2.3220155912 2093021
MESH:D013274 Stomach Neoplasms Diethylnitrosamine 2.3218456281
MESH:D015173 Supratentorial Neoplasms Cyclophosphamide 5.0212837982
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.5811994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.1115669648
MESH:D013959 Thyroid Diseases Thyroxine 5.6119910387
MESH:D013964 Thyroid Neoplasms Diethylnitrosamine 7.307505956
MESH:D013964 Thyroid Neoplasms Propylthiouracil 7.3015710170
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 8.2917053015
MESH:D001749 Urinary Bladder Neoplasms Cyclophosphamide 8.2914692829
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 8.298653321 16712894 17572228
MESH:D014581 Urticaria Acetaminophen 2.9410982225
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.2614692618
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.5014671159 15869587
Pathway ID Pathway Name
REACT:15380 Diabetes pathways
Pharmacogenomics Knowledge Base Top
Drug Bank Top
Drugbank ID Action Drug Name Description
DB00030 - Insulin recombinant Hypoglycemic Agents
DB00071 - Insulin, porcine Hypoglycemic Agents
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Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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