AutismKB 2.0

Annotation Detail for HSPG2


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Basic Information Top
Gene Symbol:HSPG2 ( PLC,PRCAN,SJA,SJS,SJS1 )
Gene Full Name: heparan sulfate proteoglycan 2
Band: 1p36.12
Quick LinksEntrez ID:3339; OMIM: 142461; Uniprot ID:PGBM_HUMAN; ENSEMBL ID: ENSG00000142798; HGNC ID: 5273
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04512ECM-receptor interaction
Pathway IDPathway Name
Metabolism of lipids and lipoproteins
No data
No data
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1715Myotonic disorder
1734Muscular dystrophy
1740Alzheimer's disease
1831Prostate cancer
1730Disseminated cancer
1918Atherosclerosis
1987Gingival overgrowth
2040Hyperglycemia
Desease Name
periodontitis
IMMUNE
No data
Desease Name
Dyssegmental dysplasia, Silverman-Handmaker type
Schwartz-Jampel syndrome, type 1
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D002251 Carbon Tetrachloride Carbon Tetrachloride results in increased expression of HSPG2 mRNAincreases expression 17056239
D002117 Calcitriol Calcitriol results in increased expression of HSPG2 mRNAincreases expression 16002434
D007213 Indomethacin Indomethacin results in increased expression of HSPG2 mRNAincreases expression 16771604
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin affects the expression of HSPG2 mRNAaffects expression 16962184
D014212 Tretinoin Tretinoin results in increased expression of HSPG2 mRNAincreases expression 17138961
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.3811752688 15322242 14514962
MESH:D000230 Adenocarcinoma Indomethacin 2.8516537180
MESH:D000236 Adenoma Indomethacin 3.6311497255
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.9216835633
MESH:D000505 Alopecia Tretinoin 3.9015955085
MESH:D016301 Alveolar Bone Loss Indomethacin 5.9817225004
MESH:D000544 Alzheimer Disease Indomethacin 2.7615579461 17627676
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2911748828
MESH:D001014 Aortic Aneurysm Indomethacin 5.2910231640
MESH:D017544 Aortic Aneurysm, Abdominal Indomethacin 5.3610388637
MESH:D018771 Arthralgia Indomethacin 5.782160914
MESH:D001169 Arthritis, Experimental Tretinoin 3.2816412693
MESH:D001172 Arthritis, Rheumatoid Indomethacin 4.9911248219
MESH:D001172 Arthritis, Rheumatoid Tretinoin 4.9916292516
MESH:D001249 Asthma Tretinoin 2.4316456186
MESH:D001471 Barrett Esophagus Tretinoin 4.8416935849
MESH:D001477 Bartter Syndrome Indomethacin 5.4710684365
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 10.2112125929
MESH:D001778 Blood Coagulation Disorders Tretinoin 10.2116206674 16197459
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.4015340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9715746008
MESH:D001929 Brain Edema Indomethacin 5.6411481608
MESH:D002545 Brain Ischemia Indomethacin 4.9612524144
MESH:D001943 Breast Neoplasms Calcitriol 2.0211237771
MESH:D001943 Breast Neoplasms Indomethacin 2.0217401462
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.0220435547
MESH:D001943 Breast Neoplasms Tretinoin 2.0216166294 16443354 16873071
MESH:D001997 Bronchopulmonary Dysplasia Tretinoin 5.1316813970
MESH:D002056 Burns Indomethacin 5.1910459503
MESH:D002100 Cachexia Indomethacin 5.5515625704 16537180 15141370 11239499
MESH:D002252 Carbon Tetrachloride Poisoning Carbon Tetrachloride 4.2616124888 15721981 10355542 16227642 16097048 15700767 16011737 15673190 16192424 16050911 18705752 3786805
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0916835633
MESH:D018236 Carcinoma, Embryonal Tretinoin 5.7716168501
MESH:D006528 Carcinoma, Hepatocellular Carbon Tetrachloride 4.9318788625
MESH:D006528 Carcinoma, Hepatocellular Indomethacin 4.9316391822
MESH:D006528 Carcinoma, Hepatocellular Tretinoin 4.931917145
MESH:D018827 Carcinoma, Lewis Lung Indomethacin 5.2711053908
MESH:D018276 Carcinoma, Medullary Indomethacin 5.8911352223 14736730 18791128
MESH:D002292 Carcinoma, Renal Cell Indomethacin 3.5117341418
MESH:D002294 Carcinoma, Squamous Cell Calcitriol 8.1411237771
MESH:D002294 Carcinoma, Squamous Cell Indomethacin 8.1415482327 12636206
MESH:D002294 Carcinoma, Squamous Cell Tretinoin 8.1416051514 16096774
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5416120746 18670907 18850075
MESH:D002386 Cataract Tretinoin 3.2817460283
MESH:D018290 Cervical Intraepithelial Neoplasia Tretinoin 5.1316129372
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4916835633
MESH:D002764 Cholecystitis Indomethacin 5.7811181007
MESH:D002822 Choriocarcinoma Tretinoin 5.7716461808
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 6.1812621046 15340226 16354765 8697196 15668235
MESH:D002972 Cleft Palate Tretinoin 6.189407595
MESH:D003092 Colitis Tretinoin 4.1917035595
MESH:D003110 Colonic Neoplasms Indomethacin 2.6311260862 15963497 15637740 15786552 15936596 15625704
MESH:D015179 Colorectal Neoplasms Indomethacin 2.3618059344 12606626 17054584 11197048
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3814669216 17141729
MESH:D018352 Coronavirus Infections Indomethacin 6.3317302372
MESH:D019465 Craniofacial Abnormalities marker/mechanism 10545953
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.5310048152 20055451 15322242
MESH:D019465 Craniofacial Abnormalities Tretinoin 2.539224671 10589399 14991402 17551590 9664655 16925845 8800419 9211117 9142499 9125849
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7317107852
MESH:D003967 Diarrhea Indomethacin 4.237237001 7907874
MESH:D056486 Drug-Induced Liver Injury Carbon Tetrachloride 4.007440962 6623471 21278145 7120509 19085960 15998439 4309450 7179309 2869522 6884620 16177239 3786805 10915739 11566570 9327722 3732212 16227642 10092053 15968718 15027814 19336974 17522070
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 4.0020420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.0211462148
MESH:D004374 Ductus Arteriosus, Patent Indomethacin 5.6918446180 16326151 18043480 17190690 12774134 16133044
MESH:D004381 Duodenal Ulcer Indomethacin 4.5717151854 16699067 11535926 11991626 17329845 10671773 17045617 11595431 17351913 11595415 17202747
MESH:C537998 Dyssegmental dysplasia marker/mechanism 11279527
OMIM:224410 DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE marker/mechanism
MESH:D004487 Edema Indomethacin 8.178985016 7907874 10653021 16100529 7990266 19703484 8273558
MESH:D004487 Edema Tetrachlorodibenzodioxin 8.1711000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 14.0718230668 15322242 16714409
MESH:D004489 Edema, Cardiac Tretinoin 14.0718230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Calcitriol 4.3715138306
MESH:D016889 Endometrial Neoplasms Tretinoin 3.3216569247
MESH:D004715 Endometriosis Indomethacin 10.2515652904
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 10.2510568697 9294722
MESH:D019446 Endotoxemia Indomethacin 5.0418509659
MESH:D004751 Enteritis Indomethacin 5.3610567023 17763956 16328016
MESH:D020345 Enterocolitis, Necrotizing Indomethacin 5.4717980183
MESH:D004802 Eosinophilia Indomethacin 4.5311298111
MESH:D004938 Esophageal Neoplasms Indomethacin 2.8711005569
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 9.7111564622
MESH:D005124 Eye Abnormalities Tretinoin 9.7116938888 9664655
MESH:D005234 Fatty Liver Carbon Tetrachloride 3.5419224547 12631006 61145 15959796 17595544 12795759 16239168 16045604
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.9411858732
MESH:D005334 Fever Indomethacin 4.4711852909 10431976 17627676
MESH:D005354 Fibrosarcoma Indomethacin 5.4310962813
MESH:D005355 Fibrosis Carbon Tetrachloride 25.6718705752
MESH:D005355 Fibrosis Indomethacin 25.6717994277
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 25.6720067830
MESH:D005355 Fibrosis Tretinoin 25.6717994277
MESH:D005499 Folliculitis Indomethacin 5.7811298111
MESH:D005756 Gastritis Indomethacin 5.3615046732
MESH:D005909 Glioblastoma Indomethacin 8.0512870263
MESH:D005909 Glioblastoma Tretinoin 8.0517312396
MESH:D005910 Glioma Indomethacin 3.3416487511 18371953
MESH:D005923 Glomerulosclerosis, Focal Segmental Indomethacin 4.5711849393
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.2110696789
MESH:D006073 Gout Indomethacin 5.8911248219
MESH:D006258 Head and Neck Neoplasms Indomethacin 8.6915482327
MESH:D006258 Head and Neck Neoplasms Tretinoin 8.6916096774
MESH:D006317 Hearing Loss, Noise-Induced Tretinoin 5.7716084493
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 7.0811294989 10048152
MESH:D006330 Heart Defects, Congenital Tretinoin 7.0814991402 9664655
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.7111000095
MESH:D006501 Hepatic Encephalopathy Indomethacin 4.9415633222
MESH:D006505 Hepatitis Carbon Tetrachloride 4.0319110552 19900420
MESH:D019698 Hepatitis C, Chronic Indomethacin 5.1215135802
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.3715340226 16120746 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.668697196 16354765 15340226 18606429 16959395
MESH:D006930 Hyperalgesia Indomethacin 8.9912727271
MESH:D006930 Hyperalgesia Tretinoin 8.9916870215
MESH:D034321 Hyperamylasemia Indomethacin 6.3317883296
MESH:D006932 Hyperbilirubinemia Carbon Tetrachloride 5.0716899240
MESH:D006940 Hyperemia Indomethacin 5.5512524144
MESH:D017681 Hypereosinophilic Syndrome Tretinoin 5.0516778211
MESH:D006949 Hyperlipidemias Indomethacin 4.5617546600
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0118850075 18670907
MESH:D006975 Hypertension, Portal Carbon Tetrachloride 4.5715338365
MESH:D007077 Ileal Diseases Indomethacin 5.6410574470 18306037
MESH:D007079 Ileitis Indomethacin 5.8910647630 10651667 16133968
MESH:D007235 Infant, Premature, Diseases Indomethacin 5.9816133044
MESH:D007249 Inflammation Indomethacin 5.6612568917 3291741 7812673
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.6612878042 12200463
MESH:D007410 Intestinal Diseases Indomethacin 11.5518236018 15831440 11686837 11713966 17994277 17329856 15610444 11855677 10210152
MESH:D007410 Intestinal Diseases Tretinoin 11.5517994277
MESH:D019586 Intracranial Hypertension Indomethacin 5.9815241188
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 11.2016580747
MESH:D007569 Jaw Abnormalities Tretinoin 11.2015992940 17551590
MESH:D007579 Jejunal Diseases Indomethacin 5.6410574470 18306037 16133968
MESH:D007674 Kidney Diseases Indomethacin 3.4517190690
MESH:D016773 Leishmaniasis, Cutaneous Indomethacin 4.2110320625 12228301 11703811
MESH:D007938 Leukemia Tretinoin 2.9217143497
MESH:D015464 Leukemia, Myelogenous, Chronic, BCR-ABL Positive Indomethacin 4.1815631656 10785260 16572323
MESH:D007951 Leukemia, Myeloid Tretinoin 4.0716932348 16482212 19285840
MESH:D015470 Leukemia, Myeloid, Acute Indomethacin 4.2318360721
MESH:D015470 Leukemia, Myeloid, Acute Tretinoin 4.2316294345 19850784 17596541
MESH:D015473 Leukemia, Promyelocytic, Acute Tretinoin 3.3717217047 16891316 12679006 19035177 17301526 9834237 17506722 17294898 19225113 19075265 19029980 19642359 16935935 17361223 16140955 16823087 16331271 17107899 17368321 17712046 16766008 17339181 15748426 16788101 17649720
MESH:D007964 Leukocytosis Indomethacin 5.9816537180
MESH:D007969 Leukomalacia, Periventricular Indomethacin 6.3317980183
MESH:D017880 Limb Deformities, Congenital Tretinoin 3.559224671
MESH:D008101 Liver Abscess, Amebic Indomethacin 6.3311479899
MESH:D008103 Liver Cirrhosis Carbon Tetrachloride 2.9811903743 16943688 16221502 21278145 17334410 11408273 17174718 16239168 17157831
MESH:D008106 Liver Cirrhosis, Experimental Carbon Tetrachloride 5.2418481824 15730626 18395095 18054572 15052691 15338365 11481614 14748882 13678700 17805973 17640975 18251166 18166357 18376398 16033810 12445418 17525996 17557913 18187930 16015684 18317297 17714472 12445421 14716496 12632512 18277467 16027843 12666154 15876570 17823541 12586293 12546737 20821823 17708605 17766677 16248980 14724832 18210741 12958196 18395914 18205269 15818738 16116963 17761835 18339082 15673190 12632514 18472332 12741479 18412020 12609069 15370692 17900296 16136751 16011737 16638106 18418968 14620537 18429990 12389079 17976157 18006644 17631135 17869086 15650968 15925388 16192424 14512876 18279442 15931870 12898905 17481882 17944888 18472094 18705752 17698563 15996030 17922224 15893842 12649538 15057751 17565644 15959796 10355542 17721639 16097048 18156304 15362042 18263696 18420326 15123356 14716833 12667390
MESH:D008106 Liver Cirrhosis, Experimental Indomethacin 5.2418194892
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 5.2412878042
MESH:D008106 Liver Cirrhosis, Experimental Tretinoin 5.2416248980 18397230
MESH:D008107 Liver Diseases Carbon Tetrachloride 2.1517285989 16964402 15720792 15830285 16246199
MESH:D017093 Liver Failure Carbon Tetrachloride 4.6515123358
MESH:D017114 Liver Failure, Acute Carbon Tetrachloride 4.0414706259 16899240
MESH:D008113 Liver Neoplasms Carbon Tetrachloride 4.7619294768
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.7616984957
MESH:D008114 Liver Neoplasms, Experimental Carbon Tetrachloride 6.4512014681 15583823
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.4512151625
MESH:D008175 Lung Neoplasms Indomethacin 2.5611497255 16537180 11053908
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.5619555203 11884234
MESH:D008527 Medulloblastoma Tretinoin 2.9017453147
MESH:D008545 Melanoma Tretinoin 1.9816752155
MESH:D008591 Meningomyelocele Tretinoin 4.9116940565
MESH:D008881 Migraine Disorders Indomethacin 3.9211903285
MESH:D009062 Mouth Neoplasms Indomethacin 4.2612636206
MESH:D009190 Myelodysplastic Syndromes Tretinoin 3.2617596541
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.3112213967
MESH:D009362 Neoplasm Metastasis Indomethacin 3.2816537180 11239499 11053908
MESH:D009369 Neoplasms Tretinoin 2.5516946489 16594593
MESH:D009374 Neoplasms, Experimental Indomethacin 4.6215625704 10663608
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 11.0214600291
MESH:D009421 Nervous System Malformations Tretinoin 11.029125849
MESH:D009436 Neural Tube Defects Tretinoin 3.279142499
MESH:D019636 Neurodegenerative Diseases Indomethacin 4.2512349958
MESH:D007752 Obstetric Labor, Premature Indomethacin 5.786374098
MESH:D010003 Osteoarthritis Indomethacin 3.867009135
MESH:D010009 Osteochondrodysplasias marker/mechanism 10545953 11279527
MESH:D010051 Ovarian Neoplasms Tretinoin 2.4316936753
MESH:D010146 Pain Indomethacin 8.0017440234 3291741 17627676 13679232
MESH:D010146 Pain Tretinoin 8.0016870215
MESH:D010149 Pain, Postoperative Indomethacin 5.2912538197 18702446
MESH:D010190 Pancreatic Neoplasms Tretinoin 2.5615976015
MESH:D010195 Pancreatitis Indomethacin 4.3215028970 17883296
MESH:D010257 Paraneoplastic Syndromes Indomethacin 6.3316537180
MESH:D020734 Parkinsonian Disorders Indomethacin 4.4712349958
MESH:D051302 Paroxysmal Hemicrania Indomethacin 6.3311903285
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.8612520081
MESH:D010437 Peptic Ulcer Indomethacin 5.6911148446
MESH:D010518 Periodontitis Indomethacin 5.5217225004
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.0018163543
MESH:D047928 Premature Birth Indomethacin 5.6117000239
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.7311118676 11399792 11896295 11222880
MESH:D011470 Prostatic Hyperplasia Calcitriol 5.3215572423
MESH:D011471 Prostatic Neoplasms Calcitriol 3.4918247401 15754350 16289102 16644109 12479363
MESH:D011507 Proteinuria Indomethacin 10.7111849393
MESH:D011507 Proteinuria Tretinoin 10.7116636307
MESH:D011625 Pterygium Tretinoin 5.3316723453
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.2818990726
MESH:D012208 Rhabdomyosarcoma Tretinoin 4.5016116481 16283617
OMIM:255800 SCHWARTZ-JAMPEL SYNDROME, TYPE 1 marker/mechanism
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 6.0416192470
MESH:D012878 Skin Neoplasms Tretinoin 6.0416467112
MESH:D013272 Stomach Diseases Indomethacin 4.9610215738 16113693 15472012 17638125 15038085 18545984 17160473 16184426 18209964 10192188 17207306 16280098 10486359
MESH:D013274 Stomach Neoplasms Indomethacin 2.7115609394
MESH:D013274 Stomach Neoplasms Tretinoin 2.7117261132
MESH:D013276 Stomach Ulcer Indomethacin 3.9516169175 10423059 15255614 16755016 18209962 17895592 18193104 10878458 12500499 12077510 11523592 15138204 16934674 15104355 18726076 16397915 17654042 11906479 11595431 17918041 18181030 17977527 12787963 1323529 14567935 16631530 18237397 16150113 12467913 18543354 16252198 18431645 17657623 17627676 11145282 10750652 18087811 17135157 12498302 11729361 11595415 18299717
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.5112697716
MESH:D013964 Thyroid Neoplasms Indomethacin 8.3114736730 18791128 11352223
MESH:D013964 Thyroid Neoplasms Tretinoin 8.3116026305 17045167
MESH:D014062 Tongue Neoplasms Tretinoin 4.1416051514
MESH:D014376 Tuberculosis Tretinoin 3.4316040207
MESH:D014456 Ulcer Indomethacin 5.4310574470 17380554
MESH:D002583 Uterine Cervical Neoplasms Tretinoin 4.0216129372
MESH:D014604 Uveal Neoplasms Tretinoin 5.2216752155
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.2112125929
MESH:D014820 Vitiligo Tretinoin 4.5016761959
MESH:D014839 Vomiting Indomethacin 5.3611897121
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.8615886252
MESH:D009396 Wilms Tumor Tretinoin 4.2916287080
Pathway ID Pathway Name
KEGG:04512 ECM-receptor interaction
REACT:22258 Metabolism of lipids and lipoproteins
Pharmacogenomics Knowledge Base Top
Drug Bank Top
Drugbank ID Action Drug Name Description
DB00039 - Palifermin Antimucositis Agents
No data
No data
No data

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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