AutismKB 2.0

Annotation Detail for HSPB3


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Basic Information Top
Gene Symbol:HSPB3 ( DHMN2C,HMN2C,HSPL27 )
Gene Full Name: heat shock 27kDa protein 3
Band: 5q11.2
Quick LinksEntrez ID:8988; OMIM: 604624; Uniprot ID:HSPB3_HUMAN; ENSEMBL ID: ENSG00000169271; HGNC ID: 5248
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
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Desease Name
Neuronopathy, distal hereditary motor, type IIC
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000643 Ammonium Chloride Ammonium Chloride affects the expression of HSPB3 mRNAaffects expression 16483693
D002251 Carbon Tetrachloride Carbon Tetrachloride affects the expression of HSPB3 mRNAaffects expression 12734012
D002251 Carbon Tetrachloride Carbon Tetrachloride results in decreased expression of HSPB3 proteindecreases expression 12629582
D002117 Calcitriol Calcitriol results in decreased expression of HSPB3 mRNAdecreases expression 16002434
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of HSPB3 mRNAaffects expression 17555576
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of HSPB3 mRNAincreases expression 17942748
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of HSPB3 mRNAaffects cotreatment|increases expression 17942748
C014707 nitrosobenzylmethylamine nitrosobenzylmethylamine results in increased expression of HSPB3 mRNAincreases expression 17616710
D010656 Phenylephrine Phenylephrine results in increased expression of HSPB3 mRNAincreases expression 18158353
D013629 Tamoxifen Tamoxifen affects the expression of HSPB3 mRNAaffects expression 17555576
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of HSPB3 mRNAaffects cotreatment|increases expression 17942748
D014415 Tunicamycin Tunicamycin results in decreased expression of HSPB3 mRNAdecreases expression 17127020
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 4.8714745880
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.1315322242 14514962 11752688
MESH:D000138 Acidosis Ammonium Chloride 3.8418287403
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.2617505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8514692618
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.6616835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1411748828
MESH:D001145 Arrhythmias, Cardiac Phenylephrine 4.3017460149
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.7211256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.7815885639
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.2512125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.1115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8915746008
MESH:D001919 Bradycardia Phenylephrine 4.8315306635
MESH:D001943 Breast Neoplasms Calcitriol 1.8711237771
MESH:D001943 Breast Neoplasms Tamoxifen 1.8716818667 15565566 19244106 18629630 17261762 19155303 19066611 18351453 19200415 19189212 19288272 19115204 17440819 18815881 19487384 19011961 17049068 20544844 19103187 16202921 20390343 19189210 20065188 19084267 16273361 20135344 18821012 11161223 18997820 17893378 21138602 19221464 19410462 18855134 20859285 15668708 19059307 19142967 21152245 17242785 16873071 19289846 18425577 20005174 18984771
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.8720435547
MESH:D002252 Carbon Tetrachloride Poisoning Carbon Tetrachloride 4.0416124888 15700767 16011737 16227642 10355542 15673190 16097048 15721981 18705752 3786805 16192424 16050911
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9616835633
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.7619066611
MESH:D006528 Carcinoma, Hepatocellular Carbon Tetrachloride 3.0918788625
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 3.0916924424
MESH:D002294 Carcinoma, Squamous Cell Calcitriol 2.6711237771
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 3.8117572228
MESH:D006332 Cardiomegaly Phenylephrine 7.2316170337 17124262 17287366 15728586 11179087 11754973
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 7.2318850075 18670907 16120746
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3416835633
MESH:D002779 Cholestasis Ethinyl Estradiol 3.0211677210 17681005 17333356 16919318 15861022 16105132 17110522
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1815340226 12621046 8697196 15668235 16354765
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2414669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2610048152 20055451 15322242
MESH:D003711 Demyelinating Diseases Tamoxifen 4.6219031437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7117107852
MESH:D003928 Diabetic Nephropathies Tamoxifen 3.6619279558
MESH:D056486 Drug-Induced Liver Injury Carbon Tetrachloride 3.897179309 17522070 19336974 16177239 15027814 10915739 11566570 21278145 3786805 19085960 7120509 2869522 15998439 7440962 6623471 16227642 6884620 15968718 3732212 4309450 10092053 9327722
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 3.8920420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9111462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.5811000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.2216714409 15322242 18230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Calcitriol 16.7915138306
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 16.7912538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 16.7919031437
MESH:D016889 Endometrial Neoplasms Tamoxifen 3.1717893378 20544844 16202921 19155303
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.2110568697 9294722
MESH:D004938 Esophageal Neoplasms nitrosobenzylmethylamine 2.8216510608 15623463 15547733 16805852 15264214 16704527 15878914 15547721 15150132
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1611564622
MESH:D005234 Fatty Liver Carbon Tetrachloride 14.3312631006 17595544 15959796 16045604 12795759 16239168 19224547 61145
MESH:D005234 Fatty Liver Ethinyl Estradiol 14.3315345470
MESH:D005234 Fatty Liver Tamoxifen 14.3319224547 14986274
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.3516709447
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.7111858732
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.8114745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.4719069698
MESH:D005355 Fibrosis Carbon Tetrachloride 9.4718705752
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 9.4720067830
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.9110696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4311294989 10048152
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5411000095
MESH:D006505 Hepatitis Carbon Tetrachloride 3.8319900420 19110552
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.1512621046 15340226 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.368697196 16354765 15340226 18606429 16959395
MESH:D006932 Hyperbilirubinemia Carbon Tetrachloride 4.8216899240
MESH:D006973 Hypertension Phenylephrine 5.5312717712 8949925
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.5318670907 18850075
MESH:D006975 Hypertension, Portal Carbon Tetrachloride 4.3515338365
MESH:D006984 Hypertrophy Phenylephrine 4.7618502941 12791704
MESH:D007021 Hypospadias Ethinyl Estradiol 4.0716569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.6812013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.6217937319
MESH:D007249 Inflammation Tamoxifen 5.2119457130
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.2112878042 12200463
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5416580747
MESH:D007680 Kidney Neoplasms Tamoxifen 3.2118625569
MESH:D008064 Lipidoses Tamoxifen 3.3015342952 17567588
MESH:D008103 Liver Cirrhosis Carbon Tetrachloride 2.9121278145 16943688 16221502 11408273 11903743 17157831 16239168 17174718 17334410
MESH:D008106 Liver Cirrhosis, Experimental Carbon Tetrachloride 3.5518054572 16248980 17922224 18210741 14512876 15673190 17698563 17761835 14620537 18277467 15925388 15730626 12389079 12546737 12445418 18472094 15931870 15818738 15370692 16015684 18006644 17714472 16638106 14748882 18156304 12898905 18418968 12632514 20821823 17557913 15996030 16136751 17976157 14716496 15123356 18472332 16011737 17869086 11481614 17708605 17565644 17481882 18420326 12666154 18279442 18376398 12667390 17823541 15362042 17805973 12741479 18412020 18481824 15338365 16116963 18251166 15057751 18395914 18429990 12649538 12445421 14724832 12958196 18166357 15052691 18317297 18395095 16097048 15893842 18205269 15876570 14716833 12609069 17766677 18339082 17900296 18705752 12632512 18187930 15959796 17721639 16192424 10355542 17525996 17944888 12586293 15650968 17640975 16027843 18263696 16033810 17631135 13678700
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 3.5518564211
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 3.5512878042
MESH:D008107 Liver Diseases Carbon Tetrachloride 2.1217285989 16964402 15720792 16246199 15830285
MESH:D017093 Liver Failure Carbon Tetrachloride 4.4215123358
MESH:D017114 Liver Failure, Acute Carbon Tetrachloride 3.8814706259 16899240
MESH:D008113 Liver Neoplasms Carbon Tetrachloride 7.7919294768
MESH:D008113 Liver Neoplasms Tamoxifen 7.7916684651
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.7916984957
MESH:D008114 Liver Neoplasms, Experimental Carbon Tetrachloride 6.1612014681 15583823
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.1612151625
MESH:D008175 Lung Neoplasms Tamoxifen 2.3018625569
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.3019555203 11884234
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 4.0419428831
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 2.7411731420 19196722 14580682 16827153 19196723
MESH:D020149 Manganese Poisoning Tamoxifen 4.8719453300
MESH:D008545 Melanoma Tamoxifen 1.9019393235 12393984
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.4715990972
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1812213967
MESH:D009362 Neoplasm Metastasis Tamoxifen 2.6119393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.5719410462
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.3219189210 19196722 19200415
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.4514600291
OMIM:613376 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC marker/mechanism
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.9111578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.5712520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8018163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.4811399792 11118676 11222880 11896295
MESH:D011470 Prostatic Hyperplasia Calcitriol 5.0615572423
MESH:D011471 Prostatic Neoplasms Calcitriol 3.2912479363 16289102 15754350 18247401 16644109
MESH:D011471 Prostatic Neoplasms Tamoxifen 3.2915067354
MESH:D011537 Pruritus Ethinyl Estradiol 3.6015861022 16919318
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0818990726
MESH:D012852 Sinusitis Phenylephrine 4.997327846
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1316192470
MESH:D013088 Spermatocele Ethinyl Estradiol 12.6516709447
MESH:D013088 Spermatocele Tamoxifen 12.6516709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.3219457130
MESH:D013274 Stomach Neoplasms nitrosobenzylmethylamine 2.3312958204 17575124
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.8411994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.3315669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.2212697716
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 2.4216712894 8653321 17572228
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.5414692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.9112125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.7514671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.5715886252
No data
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  (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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